KEGG   Homo sapiens (human): 55818
Entry
55818             CDS       T01001                                 
Symbol
KDM3A, JHDM2A, JHMD2A, JMJD1, JMJD1A, TSGA
Name
(RefSeq) lysine demethylase 3A
  KO
K15601  [histone H3]-dimethyl-L-lysine9 demethylase [EC:1.14.11.65]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04714  Thermogenesis
Network
nt06529  Thermogenesis
  Element
N01688  ADRB3-UCP1 signaling pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    55818 (KDM3A)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    55818 (KDM3A)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.11  With 2-oxoglutarate as one donor, and incorporation of one atom of oxygen into each donor
    1.14.11.65  [histone H3]-dimethyl-L-lysine9 demethylase
     55818 (KDM3A)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   Histone demethylases
    55818 (KDM3A)
SSDB
Motif
Pfam: DUF7030 PWWP_KDM3B JmjC KDM3B_Tudor zf-UDP Cupin_2 C1_2
Other DBs
NCBI-GeneID: 55818
NCBI-ProteinID: NP_001140160
OMIM: 611512
HGNC: 20815
Ensembl: ENSG00000115548
Pharos: Q9Y4C1(Tchem)
UniProt: Q9Y4C1
LinkDB
Position
2:86437044..86492716
AA seq 1321 aa
MVLTLGESWPVLVGRRFLSLSAADGSDGSHDSWDVERVAEWPWLSGTIRAVSHTDVTKKD
LKVCVEFDGESWRKRRWIEVYSLLRRAFLVEHNLVLAERKSPEISERIVQWPAITYKPLL
DKAGLGSITSVRFLGDQQRVFLSKDLLKPIQDVNSLRLSLTDNQIVSKEFQALIVKHLDE
SHLLKGDKNLVGSEVKIYSLDPSTQWFSATVINGNPASKTLQVNCEEIPALKIVDPSLIH
VEVVHDNLVTCGNSARIGAVKRKSSENNGTLVSKQAKSCSEASPSMCPVQSVPTTVFKEI
LLGCTAATPPSKDPRQQSTPQAANSPPNLGAKIPQGCHKQSLPEEISSCLNTKSEALRTK
PDVCKAGLLSKSSQIGTGDLKILTEPKGSCTQPKTNTDQENRLESVPQALTGLPKECLPT
KASSKAELEIANPPELQKHLEHAPSPSDVSNAPEVKAGVNSDSPNNCSGKKVEPSALACR
SQNLKESSVKVDNESCCSRSNNKIQNAPSRKSVLTDPAKLKKLQQSGEAFVQDDSCVNIV
AQLPKCRECRLDSLRKDKEQQKDSPVFCRFFHFRRLQFNKHGVLRVEGFLTPNKYDNEAI
GLWLPLTKNVVGIDLDTAKYILANIGDHFCQMVISEKEAMSTIEPHRQVAWKRAVKGVRE
MCDVCDTTIFNLHWVCPRCGFGVCVDCYRMKRKNCQQGAAYKTFSWLKCVKSQIHEPENL
MPTQIIPGKALYDVGDIVHSVRAKWGIKANCPCSNRQFKLFSKPASKEDLKQTSLAGEKP
TLGAVLQQNPSVLEPAAVGGEAASKPAGSMKPACPASTSPLNWLADLTSGNVNKENKEKQ
PTMPILKNEIKCLPPLPPLSKSSTVLHTFNSTILTPVSNNNSGFLRNLLNSSTGKTENGL
KNTPKILDDIFASLVQNKTTSDLSKRPQGLTIKPSILGFDTPHYWLCDNRLLCLQDPNNK
SNWNVFRECWKQGQPVMVSGVHHKLNSELWKPESFRKEFGEQEVDLVNCRTNEIITGATV
GDFWDGFEDVPNRLKNEKEPMVLKLKDWPPGEDFRDMMPSRFDDLMANIPLPEYTRRDGK
LNLASRLPNYFVRPDLGPKMYNAYGLITPEDRKYGTTNLHLDVSDAANVMVYVGIPKGQC
EQEEEVLKTIQDGDSDELTIKRFIEGKEKPGALWHIYAAKDTEKIREFLKKVSEEQGQEN
PADHDPIHDQSWYLDRSLRKRLHQEYGVQGWAIVQFLGDVVFIPAGAPHQVHNLYSCIKV
AEDFVSPEHVKHCFWLTQEFRYLSQTHTNHEDKLQVKNVIYHAVKDAVAMLKASESSFGK
P
NT seq 3966 nt   +upstreamnt  +downstreamnt
atggtgctcacgctcggagaaagttggccggtattggtggggaggaggtttctcagtctg
tccgcagccgacggcagcgatggcagccacgacagctgggacgtggagcgcgtcgccgag
tggccctggctctccgggaccattcgagctgtttcccacaccgacgttaccaagaaggat
ctgaaggtgtgtgtggaatttgatggggaatcttggaggaaaagaagatggatagaagtc
tacagccttctaaggagagcatttttagtagaacataatttggttttagctgaacgaaag
tcacctgaaatttctgaacgaattgtacagtggcctgcaataacgtacaaacctctgttg
gacaaagctggtttgggatccataacttctgttcgctttctgggagatcaacaaagagta
tttctttctaaagaccttttgaagcctatacaggatgtaaacagtcttcgactttctctt
acggataatcagattgtcagtaaagaatttcaagctttgattgtgaagcatttagatgaa
agccatcttttaaaaggtgacaaaaacttagttggttcagaagtaaaaatttatagcttg
gacccatctactcagtggttttcagcaaccgttataaatggaaacccagcatcaaaaact
cttcaagtcaactgtgaggagattccagcactgaaaattgttgatccgtcactgattcat
gttgaagttgtacacgataaccttgtgacatgtggtaattctgcaagaattggagctgta
aaacgcaagtcttctgagaataatggaaccctggtttccaaacaagcaaaatcttgctct
gaggcctctcccagtatgtgtcctgtgcagtctgtacctacaacagtttttaaggagata
ctgcttggctgtactgcggcaactccacctagtaaggacccaagacagcaaagtactccc
caggctgccaactctccacctaaccttggagcaaaaattcctcaaggatgtcataaacaa
agtttaccagaggaaatttcttcctgtctaaatacaaagtctgaagctctgagaacaaaa
ccagatgtctgcaaagcagggttgctctcaaagtcctctcagattggaactggagacttg
aaaattctgactgagccaaaaggcagctgtactcagcctaagacaaacactgatcaggaa
aacagattggagtctgttccacaagcattgactggccttcctaaggagtgcttacctaca
aaggcttcttctaaggcagaattggaaattgccaatcctcctgaactgcagaagcaccta
gaacatgcaccttccccatcggatgtttcaaatgcaccagaagtgaaagcaggtgtcaat
agtgatagccctaataactgttcaggaaaaaaggtagaaccttcagctttagcttgccga
tcacagaatttaaaggaatcttcagtaaaagtagataatgaaagctgttgttcaagaagc
aacaataaaatccagaatgccccatccaggaagtcggttttgacagacccagctaaactc
aaaaagctgcaacagagtggcgaggccttcgtacaggatgattcttgtgtgaacatcgtg
gcacagttgcctaaatgccgagagtgtcgcttggacagtctccgcaaggataaggagcaa
cagaaggactcacctgtgttttgccgcttctttcacttcaggaggttacaattcaacaaa
catggtgtgttgcgggtagaaggcttcttaacaccaaacaagtatgacaatgaagcaatt
ggcttgtggttacctttaaccaaaaacgttgtggggattgatttggacacagcaaagtac
atcttggccaacattggagaccacttctgtcaaatggtgatttctgaaaaggaagctatg
tcaactattgagccacacagacaggttgcttggaagcgagctgtcaaaggtgttcgagaa
atgtgtgatgtgtgcgacaccaccatcttcaacctgcactgggtgtgtcctcggtgtggg
tttggagtatgtgtggactgctaccggatgaagagaaagaattgccaacagggtgctgct
tacaagactttctcttggctaaaatgtgtgaagagtcagatacatgaaccagagaactta
atgcccacacagatcattcctggaaaagcactctatgatgttggagacattgttcattct
gtaagagcgaaatggggaataaaggcaaactgcccttgttcaaacaggcaattcaaactc
ttttcaaagccagcctcaaaggaagacctaaaacagacttctttagctggagaaaaaccg
actcttggtgcagtgctccagcagaatccctcagtgttggagccagcagctgtgggtggg
gaagcagcctccaagccagccggcagcatgaagcctgcctgtccagccagcacatctcct
ctaaactggctggccgacctaaccagcgggaatgtcaacaaggaaaacaaggaaaaacaa
ccaacaatgccaattttaaagaatgaaatcaaatgccttccacccctcccacctttaagc
aaatccagcacagtcctccatacgtttaacagcacaattttgacacccgtaagcaacaac
aattctggtttcctccggaatctcttgaattcttctacaggaaagacagaaaatggactc
aagaatacaccaaaaatccttgatgacatctttgcctctttggtgcaaaataagacgact
tctgatttatctaagaggcctcaaggactaaccatcaagcccagcattctgggctttgac
actcctcactattggctttgtgataatcgcttgctgtgcttgcaagaccccaacaataag
agcaactggaatgtgtttagggagtgctggaaacaagggcagccagtgatggtgtctgga
gtgcatcataaattgaactctgaactttggaaacctgaatccttcaggaaagagtttggt
gagcaggaagtagacctagttaattgtaggaccaatgaaatcatcacaggagccacagta
ggagacttctgggatggatttgaagatgttccaaatcgtttgaaaaatgaaaaagaacca
atggtgttgaaacttaaggactggccaccaggagaagattttagagatatgatgccttcc
aggtttgatgatctgatggccaacattccactgcccgagtacacaaggcgagatggcaaa
ctgaatttggcctctaggctgccaaactactttgttcggccagatctgggccccaagatg
tataatgcttatggattaatcactcctgaagatcggaaatatggaacaacaaatcttcac
ttagatgtatctgatgcagctaatgtcatggtctatgtgggaattcccaaaggacagtgt
gagcaagaagaagaagtccttaagaccatccaagatggagattctgacgaactcacaata
aagcgatttattgaaggaaaagagaagccaggagcactgtggcacatatatgctgcaaag
gacacggagaagataagggaatttcttaaaaaggtatcagaagagcaaggtcaagaaaac
ccagcagaccacgatcctattcatgatcaaagctggtatttagaccgatcattaagaaaa
cgtcttcatcaagagtatggagttcaaggctgggctattgtacagtttcttggggatgtg
gtgtttatcccggcaggagctccacatcaggttcataacttatatagctgcatcaaagtg
gctgaagattttgtttctccagagcatgttaaacactgcttctggcttactcaggaattc
cgatatctgtcacagactcataccaatcacgaagataaattacaggtgaagaatgttatc
taccatgcagtgaaagatgcagttgctatgctgaaagccagtgaatccagttttggcaaa
ccttaa

KEGG   Homo sapiens (human): 51780
Entry
51780             CDS       T01001                                 
Symbol
KDM3B, 5qNCA, C5orf7, DIJOS, JMJD1B, NET22
Name
(RefSeq) lysine demethylase 3B
  KO
K15601  [histone H3]-dimethyl-L-lysine9 demethylase [EC:1.14.11.65]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04714  Thermogenesis
Network
nt06529  Thermogenesis
  Element
N01688  ADRB3-UCP1 signaling pathway
Disease
H02521  Diets-Jongmans syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    51780 (KDM3B)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    51780 (KDM3B)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.11  With 2-oxoglutarate as one donor, and incorporation of one atom of oxygen into each donor
    1.14.11.65  [histone H3]-dimethyl-L-lysine9 demethylase
     51780 (KDM3B)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   Histone demethylases
    51780 (KDM3B)
SSDB
Motif
Pfam: PWWP_KDM3B KDM3B_Tudor JmjC DUF7030 Cupin_2 C1_2
Other DBs
NCBI-GeneID: 51780
NCBI-ProteinID: NP_057688
OMIM: 609373
HGNC: 1337
Ensembl: ENSG00000120733
Pharos: Q7LBC6(Tbio)
UniProt: Q7LBC6
Structure
LinkDB
Position
5:138352685..138437027
AA seq 1761 aa
MADAAASPVGKRLLLLFADTAASASASAPAAAAASGDPGPALRTRAWRAGTVRAMSGAVP
QDLAIFVEFDGCNWKQHSWVKVHAEEVIVLLLEGSLVWAPREDPVLLQGIRVSIAQWPAL
TFTPLVDKLGLGSVVPVEYLLDRELRFLSDANGLHLFQMGTDSQNQILLEHAALRETVNA
LISDQKLQEIFSRGPYSVQGHRVKIYQPEGEEGWLYGVVSHQDSITRLMEVSVTESGEIK
SVDPRLIHVMLMDNSAPQSEGGTLKAVKSSKGKKKRESIEGKDGRRRKSASDSGCDPASK
KLKGDRGEVDSNGSDGGEASRGPWKGGNASGEPGLDQRAKQPPSTFVPQINRNIRFATYT
KENGRTLVVQDEPVGGDTPASFTPYSTATGQTPLAPEVGGAENKEAGKTLEQVGQGIVAS
AAVVTTASSTPNTVRISDTGLAAGTVPEKQKGSRSQASGENSRNSILASSGFGAPLPSSS
QPLTFGSGRSQSNGVLATENKPLGFSFGCSSAQEAQKDTDLSKNLFFQCMSQTLPTSNYF
TTVSESLADDSSSRDSFKQSLESLSSGLCKGRSVLGTDTKPGSKAGSSVDRKVPAESMPT
LTPAFPRSLLNARTPENHENLFLQPPKLSREEPSNPFLAFVEKVEHSPFSSFASQASGSS
SSATTVTSKVAPSWPESHSSADSASLAKKKPLFITTDSSKLVSGVLGSALTSGGPSLSAM
GNGRSSSPTSSLTQPIEMPTLSSSPTEERPTVGPGQQDNPLLKTFSNVFGRHSGGFLSSP
ADFSQENKAPFEAVKRFSLDERSLACRQDSDSSTNSDLSDLSDSEEQLQAKTGLKGIPEH
LMGKLGPNGERSAELLLGKSKGKQAPKGRPRTAPLKVGQSVLKDVSKVKKLKQSGEPFLQ
DGSCINVAPHLHKCRECRLERYRKFKEQEQDDSTVACRFFHFRRLIFTRKGVLRVEGFLS
PQQSDPDAMNLWIPSSSLAEGIDLETSKYILANVGDQFCQLVMSEKEAMMMVEPHQKVAW
KRAVRGVREMCDVCETTLFNIHWVCRKCGFGVCLDCYRLRKSRPRSETEEMGDEEVFSWL
KCAKGQSHEPENLMPTQIIPGTALYNIGDMVHAARGKWGIKANCPCISRQNKSVLRPAVT
NGMSQLPSINPSASSGNETTFSGGGGPAPVTTPEPDHVPKADSTDIRSEEPLKTDSSASN
SNSELKAIRPPCPDTAPPSSALHWLADLATQKAKEETKEAGSLRSVLNKESHSPFGLDSF
NSTAKVSPLTPKLFNSLLLGPTASNNKTEGSSLRDLLHSGPGKLPQTPLDTGIPFPPVFS
TSSAGVKSKASLPNFLDHIIASVVENKKTSDASKRACNLTDTQKEVKEMVMGLNVLDPHT
SHSWLCDGRLLCLHDPSNKNNWKIFRECWKQGQPVLVSGVHKKLKSELWKPEAFSQEFGD
QDVDLVNCRNCAIISDVKVRDFWDGFEIICKRLRSEDGQPMVLKLKDWPPGEDFRDMMPT
RFEDLMENLPLPEYTKRDGRLNLASRLPSYFVRPDLGPKMYNAYGLITAEDRRVGTTNLH
LDVSDAVNVMVYVGIPIGEGAHDEEVLKTIDEGDADEVTKQRIHDGKEKPGALWHIYAAK
DAEKIRELLRKVGEEQGQENPPDHDPIHDQSWYLDQTLRKRLYEEYGVQGWAIVQFLGDA
VFIPAGAPHQVHNLYSCIKVAEDFVSPEHVKHCFRLTQEFRHLSNTHTNHEDKLQVKNII
YHAVKDAVGTLKAHESKLARS
NT seq 5286 nt   +upstreamnt  +downstreamnt
atggcggacgcggcggcctccccggtgggcaagcggctgctgctgctgttcgcggacact
gcggcctcagcctcggcctcggctcccgcggcggcagcggcgagcggagatccggggcct
gcgctgcgcactcgagcctggcgggccggcacggtgcgggccatgagcggggcggtgccc
caggacctagcgatctttgtagaatttgatggctgtaactggaagcaacactcctgggta
aaagttcatgctgaggaagttatcgtgcttctgctggaagggtctcttgtatgggcgccc
cgtgaggacccagtccttctccagggcattcgagtctccattgcacaatggccagccctg
acttttactccccttgtagataaactgggtttgggttctgtggttccagtggaatatctt
ctggatcgagagcttcggttcctgtcagatgccaatgggttgcatctgtttcagatggga
acagatagccaaaaccagattcttttggaacatgctgcactgagagaaacagttaatgct
ttgatcagtgaccaaaagctacaagagatattcagccgaggtccctacagtgttcaaggt
cacagggtcaaaatatatcagccagagggggaagaagggtggctctatggtgttgtgagc
catcaggactccatcactcgtcttatggaggtgtctgtaactgagagtggtgagatcaag
tcggtagatcccagactaatccatgtgatgctgatggataattcagcgcctcaaagcgag
gggggtacgttaaaagcagtaaaatcttccaaaggaaagaagaagagagaaagcatagag
gggaaagatggccggaggaggaaaagtgcttcggactctgggtgtgaccctgcatcaaag
aaattaaaaggagacaggggtgaagtagacagtaatgggagcgatggaggtgaggcaagc
cgagggccctggaaaggagggaatgccagtggagagccagggctggatcagagagccaag
cagccaccgtctacatttgtcccccagataaaccgcaacattcgctttgccacttacacc
aaagaaaacggcaggactctggtggtgcaggatgagcctgtaggtggggacacacctgca
tctttcactccatattctacagccacaggtcagacacctttggccccagaggtgggtgga
gccgaaaacaaagaggcaggaaaaacactggaacaagttggccagggcatagtggcttcc
gcagctgtggtcactaccgccagctccaccccaaacacagtgaggatctcagacactggc
cttgcagcagggactgtgccagaaaaacagaaaggcagccggtcgcaggcctcgggagag
aattcaagaaattctattctggcctcttctggatttggagcacctctccctagttcatcg
caacctttgacttttggaagtggaaggagccagtccaatggtgttctagccacagagaac
aaacctttgggcttctcttttggctgtagctctgcacaagaggcacagaaagacactgat
ctctccaaaaacttgttttttcaatgcatgtcccaaactttacctaccagtaactacttc
actactgtttcagagagtttggctgatgattcttctagtcgggactcattcaaacaaagc
cttgagagcctgagctcaggcctgtgtaaaggcagatccgttcttggaacagacactaag
ccaggctctaaggctggcagctctgtggaccggaaagtgcctgcagagtccatgcccacc
ctcactccagccttcccacggagcctcctaaatgcccgtaccccagagaatcatgaaaat
ctatttttacagccccccaaattgtcccgagaagagccttctaatcctttcctggcattt
gtggagaaagttgaacacagccctttcagtagttttgcatctcaggcatcaggtagctcc
tcttctgctaccactgtcacctccaaggtggcacccagctggcccgagtctcactcctct
gcagattcggcatctttagcaaagaagaaacccctcttcattacaactgactcctccaag
ctagtatctggtgttctgggctcagctcttaccagtgggggcccaagcctctctgccatg
gggaatggccgctccagctcgcccaccagcagcctcactcagcccattgagatgccaact
ctctcctctagccccacagaggagaggccaactgtggggcctgggcagcaggacaatccc
ctcctcaaaacctttagtaacgtctttggcaggcactcaggcggctttctgtcctccccg
gcagatttttcacaggagaacaaagctccttttgaagctgtgaaaaggttctcactggat
gaacgaagcttggcttgcagacaagactcggactccagcaccaacagtgacctgtcagat
ttgagtgactctgaggagcagctgcaggctaagacaggcctgaagggaattccagagcac
ctgatggggaagctgggccccaatggggagcgcagtgctgagctgttgctgggcaaaagc
aaagggaagcaggcccccaagggccggcctcggactgcccccctgaaagttggccagtca
gtgctgaaagatgtaagcaaagtgaagaagctgaagcaatctggagagcccttcctgcag
gatgggtcatgcatcaatgtggcacctcatctgcacaagtgtcgtgaatgccgcctggag
cggtaccggaagtttaaggaacaggagcaagatgattctactgtagcctgccgtttcttt
cacttccggaggttgatcttcactcgaaaaggggtactccgtgtggaggggtttttaagc
ccccagcaaagtgaccctgatgccatgaacctgtggattccctcttcctccctagcagaa
gggatagatctagagacctcaaaatacatcctggccaatgttggggaccagttctgccag
ctcgtaatgtctgagaaggaggccatgatgatggtggagccacaccagaaagtggcatgg
aagcgagctgtgcgtggtgtacgggagatgtgtgatgtgtgtgaaacaactctcttcaac
atccactgggtttgtcgcaaatgtggatttggggtctgccttgactgttaccggctcagg
aaaagccggccacgcagtgagacagaagagatgggtgatgaagaagttttctcctggttg
aagtgtgcaaagggacagtcccacgaaccagagaatctcatgcccacacaaattattcct
ggcacagctctttacaatattggagacatggtacatgctgcccggggcaagtggggaatt
aaagcaaactgcccttgtatcagtcgacagaacaaatctgtattgagacctgccgtcacc
aatgggatgtcacagcttcctagcataaaccctagtgcctcttctggaaacgaaactacc
ttctctggtggaggaggaccggcaccagtaacaactccagagccggaccatgttcccaaa
gccgacagcactgacatcagatctgaagagcctctgaaaacagacagttcggcatcaaat
agcaatagtgaactgaaagccatcaggcctccttgccctgacacggccccaccctcctcc
gccctgcactggttggcagatttagcaactcagaaggctaaagaagaaacaaaagaagca
gggtccctgaggtcggtgctcaataaagagtctcattcaccctttgggctggactcgttc
aactccactgcaaaggtctctccgctgactccaaagctttttaacagtctgttgctgggt
cccactgcctccaacaacaaaaccgaagggtctagccttcgagacctccttcactccggg
ccgggaaaacttcctcaaacccccttggacacaggcataccctttcccccggtcttctct
acatcctcagcaggagtgaagagcaaggccagcctacccaactttcttgaccacatcatt
gcctcagtggtagaaaataagaaaacctcagatgcttcaaagcgggcctgcaacttgact
gatacccagaaggaagtgaaggagatggtgatggggttaaatgtgctagatccccatact
tctcactcctggctttgtgatgggaggcttctgtgtctccatgaccccagcaacaaaaac
aattggaagatcttccgggagtgttggaagcaaggtcagccagtgctggtttcgggggta
cataaaaagctcaagtctgagctctggaagccagaagcctttagccaggaatttggagac
caggatgtagacttggtgaactgcaggaactgtgctataatttccgatgtgaaagttcgg
gatttctgggatggtttcgagatcatatgcaaacgactacggtcagaagatgggcagcca
atggtgctcaaactcaaggactggcctcctggggaagattttcgagacatgatgccaacc
aggtttgaagatctgatggagaaccttcctctgccagaatataccaaacgagatggcagg
ctcaatctggcctctaggctacctagctactttgtaaggcctgatctgggccccaagatg
tacaacgcctatgggttgataacagcagaagatagaagagttggtacaacaaatcttcac
ttagatgtgtctgatgctgttaatgtgatggtgtatgttgggattcccatcggggagggt
gctcatgatgaagaggtactcaagacaattgacgagggagatgccgatgaggtgacgaag
cagaggattcatgatggaaaagagaagccaggtgctttatggcacatctatgcagccaag
gatgcagagaagatccgggagctgctccgaaaggttggagaagaacaaggccaagagaac
ccccctgatcatgacccaattcatgaccaaagttggtacctggaccagaccctccgtaag
cgactctatgaggagtatggcgtgcaaggctgggctattgtgcagttcctaggtgatgct
gttttcatacctgctggagccccacaccaggttcacaatctatacagttgcataaaagta
gcagaagactttgtatctccagaacatgtaaagcactgtttccgcctgactcaggaattc
aggcatctctctaacactcatacaaatcatgaggataaactgcaggtgaagaacatcatt
taccatgcagtgaaagatgcggttggcaccctcaaggctcatgaatccaaactggcaagg
tcctag

KEGG   Homo sapiens (human): 51412
Entry
51412             CDS       T01001                                 
Symbol
ACTL6B, ACTL6, BAF53B, DEE76, EIEE76, IDDSSAD, SMARCN2, arpNalpha
Name
(RefSeq) actin like 6B
  KO
K11652  actin-like protein 6B
Organism
hsa  Homo sapiens (human)
Pathway
hsa03082  ATP-dependent chromatin remodeling
hsa04714  Thermogenesis
hsa05225  Hepatocellular carcinoma
Network
nt06529  Thermogenesis
  Element
N01688  ADRB3-UCP1 signaling pathway
Disease
H00606  Early infantile epileptic encephalopathy
H02463  Syndromic intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03082 ATP-dependent chromatin remodeling
    51412 (ACTL6B)
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    51412 (ACTL6B)
 09160 Human Diseases
  09162 Cancer: specific types
   05225 Hepatocellular carcinoma
    51412 (ACTL6B)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    51412 (ACTL6B)
   03036 Chromosome and associated proteins [BR:hsa03036]
    51412 (ACTL6B)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Coactivators
    BAF/PBAF complex
     51412 (ACTL6B)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   BAF complex
    51412 (ACTL6B)
   PBAF complex
    51412 (ACTL6B)
   GBAF(ncBAF) complex
    51412 (ACTL6B)
SSDB
Motif
Pfam: Actin MobA_MobL
Other DBs
NCBI-GeneID: 51412
NCBI-ProteinID: NP_057272
OMIM: 612458
HGNC: 160
Ensembl: ENSG00000077080
Pharos: O94805(Tbio)
UniProt: O94805
LinkDB
Position
7:complement(100643097..100656448)
AA seq 426 aa
MSGGVYGGDEVGALVFDIGSFSVRAGYAGEDCPKADFPTTVGLLAAEEGGGLELEGDKEK
KGKIFHIDTNALHVPRDGAEVMSPLKNGMIEDWECFRAILDHTYSKHVKSEPNLHPVLMS
EAPWNTRAKREKLTELMFEQYNIPAFFLCKTAVLTAFANGRSTGLVLDSGATHTTAIPVH
DGYVLQQGIVKSPLAGDFISMQCRELFQEMAIDIIPPYMIAAKEPVREGAPPNWKKKEKL
PQVSKSWHNYMCNEVIQDFQASVLQVSDSPYDEQVAAQMPTVHYEMPNGYNTDYGAERLR
IPEGLFDPSNVKGLSGNTMLGVGHVVTTSIGMCDIDIRPGLYGSVIVTGGNTLLQGFTDR
LNRELSQKTPPSMRLKLIASNSTMERKFSPWIGGSILASLGTFQQMWISKQEYEEGGKQC
VERKCP
NT seq 1281 nt   +upstreamnt  +downstreamnt
atgagcgggggcgtctacggcggagatgaggtgggggcgctggtctttgacattggctcc
ttctcagtccgcgctgggtacgctggggaggactgtcccaaggctgacttccccaccaca
gtggggctgctggccgcggaggaggggggcgggctggagctggagggggacaaagagaag
aaagggaagatcttccacatcgacaccaatgccctgcacgtgcctcgggatggagcggag
gtcatgtcgcccctcaagaatggcatgatcgaggactgggagtgcttccgagccatcctg
gatcacacctacagcaaacacgtcaagtctgagccaaacctgcacccagtgctcatgtcc
gaggctccgtggaacacacgggccaagcgggagaagctgacagagctgatgttcgagcag
tacaacattcctgccttcttcttatgcaagacggctgtgctcaccgcctttgcaaacggg
cggtccactggcctcgtgctggacagtggagccacccacaccacggccattccagtacat
gacggctacgttctgcagcaaggcatcgtcaagtcccctctggcaggggacttcatctcc
atgcagtgccgggagctgttccaggagatggccattgacatcatcccaccttacatgatc
gcagccaaggagcctgtccgggagggtgcccccccaaactggaagaagaaggagaagcta
ccccaggtctccaagtcctggcataactacatgtgtaatgaggtgatccaggacttccag
gcctccgtgctgcaggtctcagactccccctacgatgaacaggtggctgcacaaatgccc
acagtgcactacgagatgcccaatggctacaatacagactacggcgccgagcgactccgc
atccctgagggcctgtttgatccctcgaacgtcaagggcctgtcggggaacaccatgttg
ggtgtgggccacgtggtgaccaccagcatcggcatgtgtgacattgatattcgcccgggc
ctgtacgggagtgtcattgtcaccggcgggaacacactgctgcagggcttcactgacagg
ctcaatcgagagctttcccagaagaccccaccgagcatgcgactgaaactcattgccagc
aacagcaccatggagcgcaagttcagcccctggatcgggggttccatcctggcctcactg
ggcactttccagcagatgtggatctccaagcaggaatatgaggagggcgggaagcagtgc
gtggagcgaaagtgcccctga

KEGG   Homo sapiens (human): 57492
Entry
57492             CDS       T01001                                 
Symbol
ARID1B, 6A3-5, BAF250B, BRIGHT, CSS1, DAN15, ELD/OSA1, MRD12, OSA2, P250R, SMARCF2
Name
(RefSeq) AT-rich interaction domain 1B
  KO
K11653  AT-rich interactive domain-containing protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa03082  ATP-dependent chromatin remodeling
hsa04714  Thermogenesis
hsa05225  Hepatocellular carcinoma
Network
nt06529  Thermogenesis
  Element
N01688  ADRB3-UCP1 signaling pathway
Disease
H00773  Autosomal dominant intellectual developmental disorder
H01403  Coffin-Siris syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03082 ATP-dependent chromatin remodeling
    57492 (ARID1B)
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    57492 (ARID1B)
 09160 Human Diseases
  09162 Cancer: specific types
   05225 Hepatocellular carcinoma
    57492 (ARID1B)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    57492 (ARID1B)
   03021 Transcription machinery [BR:hsa03021]
    57492 (ARID1B)
   03036 Chromosome and associated proteins [BR:hsa03036]
    57492 (ARID1B)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   ARID
    57492 (ARID1B)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Coactivators
    BAF/PBAF complex
     57492 (ARID1B)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   BAF complex
    57492 (ARID1B)
SSDB
Motif
Pfam: BAF250_C ARID
Other DBs
NCBI-GeneID: 57492
NCBI-ProteinID: NP_059989
OMIM: 614556
HGNC: 18040
Ensembl: ENSG00000049618
Pharos: Q8NFD5(Tbio)
UniProt: Q8NFD5
Structure
LinkDB
Position
6:156776026..157210779
AA seq 2319 aa
MAARAAAAAAAAAARARARAGSGERRAPPGPRPAPGARDLEAGARGAAAAAAAPGPMLGG
GGDGGGGLNSVHHHPLLPRHELNMAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSS
SSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHA
HHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQP
QHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAV
PGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAP
GSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAG
AVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGS
AAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQA
AAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSP
MDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQ
QQMPPQYGQQGVSGYCQQGQQPYYSQQPQPPHLPPQAQYLPSQSQQRYQPQQDMSQEGYG
TRSQPPLAPGKPNHEDLNLIQQERPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQG
DQSNPAQSPFSPHASPHLSSIPGGPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPG
SQSESSSHPALSQSPMPQERGFMAGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISS
FQQSNSSGTYGPQMSQYGPQGNYSRPPAYSGVPSASYSGPGPGMGISANNQMHGQGPSQP
CGAVPLGRMPSAGMQNRPFPGNMSSMTPSSPGMSQQGGPGMGPPMPTVNRKAQEAAAAVM
QAAANSAQSRQGSFPGMNQSGLMASSSPYSQPMNNSSSLMNTQAPPYSMAPAMVNSSAAS
VGLADMMSPGESKLPLPLKADGKEEGTPQPESKSKKSSSSTTTGEKITKVYELGNEPERK
LWVDRYLTFMEERGSPVSSLPAVGKKPLDLFRLYVCVKEIGGLAQVNKNKKWRELATNLN
VGTSSSAASSLKKQYIQYLFAFECKIERGEEPPPEVFSTGDTKKQPKLQPPSPANSGSLQ
GPQTPQSTGSNSMAEVPGDLKPPTPASTPHGQMTPMQGGRSSTISVHDPFSDVSDSSFPK
RNSMTPNAPYQQGMSMPDVMGRMPYEPNKDPFGGMRKVPGSSEPFMTQGQMPNSSMQDMY
NQSPSGAMSNLGMGQRQQFPYGASYDRRHEPYGQQYPGQGPPSGQPPYGGHQPGLYPQQP
NYKRHMDGMYGPPAKRHEGDMYNMQYSSQQQEMYNQYGGSYSGPDRRPIQGQYPYPYSRE
RMQGPGQIQTHGIPPQMMGGPLQSSSSEGPQQNMWAARNDMPYPYQNRQGPGGPTQAPPY
PGMNRTDDMMVPDQRINHESQWPSHVSQRQPYMSSSASMQPITRPPQPSYQTPPSLPNHI
SRAPSPASFQRSLENRMSPSKSPFLPSMKMQKVMPTVPTSQVTGPPPQPPPIRREITFPP
GSVEASQPVLKQRRKITSKDIVTPEAWRVMMSLKSGLLAESTWALDTINILLYDDSTVAT
FNLSQLSGFLELLVEYFRKCLIDIFGILMEYEVGDPSQKALDHNAARKDDSQSLADDSGK
EEEDAECIDDDEEDEEDEEEDSEKTESDEKSSIALTAPDAAADPKEKPKQASKFDKLPIK
IVKKNNLFVVDRSDKLGRVQEFNSGLLHWQLGGGDTTEHIQTHFESKMEIPPRRRPPPPL
SSAGRKKEQEGKGDSEEQQEKSIIATIDDVLSARPGALPEDANPGPQTESSKFPFGIQQA
KSHRNIKLLEDEPRSRDETPLCTIAHWQDSLAKRCICVSNIVRSLSFVPGNDAEMSKHPG
LVLILGKLILLHHEHPERKRAPQTYEKEEDEDKGVACSKDEWWWDCLEVLRDNTLVTLAN
ISGQLDLSAYTESICLPILDGLLHWMVCPSAEAQDPFPTVGPNSVLSPQRLVLETLCKLS
IQDNNVDLILATPPFSRQEKFYATLVRYVGDRKNPVCREMSMALLSNLAQGDALAARAIA
VQKGSIGNLISFLEDGVTMAQYQQSQHNLMHMQPPPLEPPSVDMMCRAAKALLAMARVDE
NRSEFLLHEGRLLDISISAVLNSLVASVICDVLFQIGQL
NT seq 6960 nt   +upstreamnt  +downstreamnt
atggccgcgcgggcagcagcggcggcggcggcggcggcggcgcgggcgcgggcgcgggca
ggcagcggcgaacggcgggcgccccccgggccgcggccggcgcccggagcccgggacctg
gaggcgggggcgcgcggcgcggcggcggcggcggcggcaccgggacccatgctggggggc
ggcggcgacggcggcggcggcctgaacagtgtgcaccaccaccccctgctcccccgtcac
gaactcaacatggcccataacgcgggcgccgcggccgccgccggcacccacagcgccaag
agcggcggctccgaggcggctctcaaggagggtggaagcgccgccgcgctgtcctcctcc
tcctcctcctccgcggcggcagcggcggcatcctcttcctcctcgtcgggcccgggctcg
gccatggagacggggctgctccccaaccacaaactgaaaaccgttggcgaagcccccgcc
gcgccgccccaccagcagcaccaccaccaccaccatgcccaccaccaccaccaccatgcc
caccacctccaccaccaccacgcactacagcagcagctaaaccagttccagcagcagcag
cagcagcagcaacagcagcagcagcagcagcagcaacagcaacatcccatttccaacaac
aacagcttgggcggcgcgggcggcggcgcgcctcagcccggccccgacatggagcagccg
caacatggaggcgccaaggacagtgctgcgggcggccaggccgaccccccgggcccgccg
ctgctgagcaagccgggcgacgaggacgacgcgccgcccaagatgggggagccggcgggc
ggccgctacgagcacccgggcttgggcgccctgggcacgcagcagccgccggtcgccgtg
cccgggggcggcggcggcccggcggccgtcccggagtttaataattactatggcagcgct
gcccctgcgagcggcggccccggcggccgcgctgggccttgctttgatcaacatggcgga
caacaaagccccgggatggggatgatgcactccgcctccgccgccgccgccggggccccc
ggcagcatggaccccctgcagaactcccacgaagggtaccccaacagccagtgcaaccat
tatccgggctacagccggcccggcgcgggcggcggcggcggcggcggcggcggaggagga
ggaggcagcggaggaggaggaggaggaggaggagcaggagcaggaggagcaggagcggga
gctgtggcggcggcggccgcggcggcggcggcagcagcaggaggcggcggcggcggcggc
tatgggggctcgtccgcggggtacggggtgctgagctccccccggcagcagggcggcggc
atgatgatgggccccgggggcggcggggccgcgagcctcagcaaggcggccgccggctcg
gcggcggggggcttccagcgcttcgccggccagaaccagcacccgtcgggggccaccccg
accctcaatcagctgctcacctcgcccagccccatgatgcggagctacggcggcagctac
cccgagtacagcagccccagcgcgccgccgccgccgccgtcgcagccccagtcccaggcg
gcggcggcgggggcggcggcgggcggccagcaggcggccgcgggcatgggcttgggcaag
gacatgggcgcccagtacgccgctgccagcccggcctgggcggccgcgcaacaaaggagt
cacccggcgatgagccccggcacccccggaccgaccatgggcagatcccagggcagccca
atggatccaatggtgatgaagagacctcagttgtatggcatgggcagtaaccctcattct
cagcctcagcagagcagtccgtacccaggaggttcctatggccctccaggcccacagcgg
tatccaattggcatccagggtcggactcccggggccatggccggaatgcagtaccctcag
cagcagatgccacctcagtatggacagcaaggtgtgagtggttactgccagcagggccaa
cagccatattacagccagcagccgcagcccccgcacctcccaccccaggcgcagtatctg
ccgtcccagtcccagcagaggtaccagccgcagcaggacatgtctcaggaaggctatgga
actagatctcaacctcctctggcccccggaaaacctaaccatgaagacttgaacttaata
cagcaagaaagaccatcaagtttaccagatctgtctggctccattgatgacctccccacg
ggaacggaagcaactttgagctcagcagtcagtgcatccgggtccacgagcagccaaggg
gatcagagcaacccggcgcagtcgcctttctccccacatgcgtcccctcatctctccagc
atcccggggggcccatctccctctcctgttggctctcctgtaggaagcaaccagtctcga
tctggcccaatctctcctgcaagtatcccaggtagtcagatgcctccgcagccacccggg
agccagtcagaatccagttcccatcccgccttgagccagtcaccaatgccacaggaaaga
ggttttatggcaggcacacaaagaaaccctcagatggctcagtatggacctcaacagaca
ggaccatccatgtcgcctcatccttctcctgggggccagatgcatgctggaatcagtagc
tttcagcagagtaactcaagtgggacttacggtccacagatgagccagtatggaccacaa
ggtaactactccagacccccagcgtatagtggggtgcccagtgcaagctacagcggccca
gggcccggtatgggtatcagtgccaacaaccagatgcatggacaagggccaagccagcca
tgtggtgctgtgcccctgggacgaatgccatcagctgggatgcagaacagaccatttcct
ggaaatatgagcagcatgacccccagttctcctggcatgtctcagcagggagggccagga
atggggccgccaatgccaactgtgaaccgtaaggcacaggaggcagccgcagcagtgatg
caggctgctgcgaactcagcacaaagcaggcaaggcagtttccccggcatgaaccagagt
ggacttatggcttccagctctccctacagccagcccatgaacaacagctctagcctgatg
aacacgcaggcgccgccctacagcatggcgcccgccatggtgaacagctcggcagcatct
gtgggtcttgcagatatgatgtctcctggtgaatccaaactgcccctgcctctcaaagca
gacggcaaagaagaaggcactccacagcccgagagcaagtcaaagaagtccagctcctcc
accactactggggagaagatcacgaaggtgtacgagctggggaatgagccagagagaaag
ctctgggtcgaccgatacctcaccttcatggaagagagaggctctcctgtctcaagtctg
cctgccgtgggcaagaagcccctggacctgttccgactctacgtctgcgtcaaagagatc
gggggtttggcccaggttaataaaaacaagaagtggcgtgagctggcaaccaacctaaac
gttggcacctcaagcagtgcagcgagctccctgaaaaagcagtatattcagtacctgttt
gcctttgagtgcaagatcgaacgtggggaggagcccccgccggaagtcttcagcaccggg
gacaccaaaaagcagcccaagctccagccgccatctcctgctaactcgggatccttgcaa
ggcccacagaccccccagtcaactggcagcaattccatggcagaggttccaggtgacctg
aagccacctaccccagcctccacccctcacggccagatgactccaatgcaaggtggaaga
agcagtacaatcagtgtgcacgacccattctcagatgtgagtgattcatccttcccgaaa
cggaactccatgactccaaacgccccctaccagcagggcatgagcatgcccgatgtgatg
ggcaggatgccctatgagcccaacaaggacccctttgggggaatgagaaaagtgcctgga
agcagcgagccctttatgacgcaaggacagatgcccaacagcagcatgcaggacatgtac
aaccaaagtccctccggagcaatgtctaacctgggcatggggcagcgccagcagtttccc
tatggagccagttacgaccgaaggcatgaaccttatgggcagcagtatccaggccaaggc
cctccctcgggacagccgccgtatggagggcaccagcccggcctgtacccacagcagccg
aattacaaacgccatatggacggcatgtacgggcccccagccaagcgccacgagggcgac
atgtacaacatgcagtacagcagccagcagcaggagatgtacaaccagtatggaggctcc
tactcgggcccggaccgcaggcccatccagggccagtacccgtatccctacagcagggag
aggatgcagggcccggggcagatccagacacacggaatcccgcctcagatgatgggcggc
ccgctgcagtcgtcctccagtgaggggcctcagcagaatatgtgggcagcacgcaatgat
atgccttatccctaccagaacaggcagggccctggcggccctacacaggcgcccccttac
ccaggcatgaaccgcacagacgatatgatggtacccgatcagaggataaatcatgagagc
cagtggccttctcacgtcagccagcgtcagccttatatgtcgtcctcagcctccatgcag
cccatcacacgcccaccacagccgtcctaccagacgccaccgtcactgccaaatcacatc
tccagggcgcccagcccagcgtccttccagcgctccctggagaaccgcatgtctccaagc
aagtctccttttctgccgtctatgaagatgcagaaggtcatgcccacggtccccacatcc
caggtcaccgggccaccaccccaaccacccccaatcagaagggagatcacctttcctcct
ggctcagtagaagcatcacaaccagtcttgaaacaaaggcgaaagattacctccaaagat
atcgttactcctgaggcgtggcgtgtgatgatgtcccttaaatcaggtcttttggctgag
agtacgtgggctttggacactattaatattcttctgtatgatgacagcactgttgctact
ttcaatctctcccagttgtctggatttctcgaacttttagtcgagtactttagaaaatgc
ctgattgacatttttggaattcttatggaatatgaagtgggagaccccagccaaaaagca
cttgatcacaacgcagcaaggaaggatgacagccagtccttggcagacgattctgggaaa
gaggaggaagatgctgaatgtattgatgacgacgaggaagacgaggaggatgaggaggaa
gacagcgagaagacagaaagcgatgaaaagagcagcatcgctctgactgccccggacgcc
gctgcagacccaaaggagaagcccaagcaagccagtaagttcgacaagctgccaataaag
atagtcaaaaagaacaacctgtttgttgttgaccgatctgacaagttggggcgtgtgcag
gagttcaatagtggccttctgcactggcagctcggcgggggtgacaccaccgagcacatt
cagactcactttgagagcaagatggaaattcctcctcgcaggcgcccacctcccccctta
agctccgcaggtagaaagaaagagcaagaaggcaaaggcgactctgaagagcagcaagag
aaaagcatcatagcaaccatcgatgacgtcctctctgctcggccaggggcattgcctgaa
gacgcaaaccctgggccccagaccgaaagcagtaagtttccctttggtatccagcaagcc
aaaagtcaccggaacatcaagctgctggaggacgagcccaggagccgagacgagactcct
ctgtgtaccatcgcgcactggcaggactcgctggctaagcgatgcatctgtgtgtccaat
attgtccgtagcttgtcattcgtgcctggcaatgatgccgaaatgtccaaacatccaggc
ctggtgctgatcctggggaagctgattcttcttcaccacgagcatccagagagaaagcga
gcaccgcagacctatgagaaagaggaggatgaggacaagggggtggcctgcagcaaagat
gagtggtggtgggactgcctcgaggtcttgagggataacacgttggtcacgttggccaac
atttccgggcagctagacttgtctgcttacacggaaagcatctgcttgccaattttggat
ggcttgctgcactggatggtgtgcccgtctgcagaggcacaagatccctttccaactgtg
ggacccaactcggtcctgtcgcctcagagacttgtgctggagaccctctgtaaactcagt
atccaggacaataatgtggacctgatcttggccactcctccatttagtcgtcaggagaaa
ttctatgctacattagttaggtacgttggggatcgcaaaaacccagtctgtcgagaaatg
tccatggcgcttttatcgaaccttgcccaaggggacgcactagcagcaagggccatagct
gtgcagaaaggaagcattggaaacttgataagcttcctagaggatggggtcacgatggcc
cagtaccagcagagccagcacaacctcatgcacatgcagcccccgcccctggaaccacct
agcgtagacatgatgtgcagggcggccaaggctttgctagccatggccagagtggacgaa
aaccgctcggaattccttttgcacgagggccggttgctggatatctcgatatcagctgtc
ctgaactctctggttgcatctgtcatctgtgatgtactgtttcagattgggcagttatga

KEGG   Homo sapiens (human): 60
Entry
60                CDS       T01001                                 
Symbol
ACTB, BKRNS, BNS, BRWS1, CSMH, DDS1, PS1TP5BP1, THC8
Name
(RefSeq) actin beta
  KO
K05692  actin beta/gamma 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa03082  ATP-dependent chromatin remodeling
hsa04015  Rap1 signaling pathway
hsa04145  Phagosome
hsa04210  Apoptosis
hsa04390  Hippo signaling pathway
hsa04510  Focal adhesion
hsa04520  Adherens junction
hsa04530  Tight junction
hsa04611  Platelet activation
hsa04613  Neutrophil extracellular trap formation
hsa04670  Leukocyte transendothelial migration
hsa04714  Thermogenesis
hsa04810  Regulation of actin cytoskeleton
hsa04814  Motor proteins
hsa04820  Cytoskeleton in muscle cells
hsa04919  Thyroid hormone signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04971  Gastric acid secretion
hsa05014  Amyotrophic lateral sclerosis
hsa05100  Bacterial invasion of epithelial cells
hsa05110  Vibrio cholerae infection
hsa05130  Pathogenic Escherichia coli infection
hsa05131  Shigellosis
hsa05132  Salmonella infection
hsa05135  Yersinia infection
hsa05164  Influenza A
hsa05205  Proteoglycans in cancer
hsa05225  Hepatocellular carcinoma
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa05416  Viral myocarditis
hsa05418  Fluid shear stress and atherosclerosis
Network
nt06180  Pathogenic Escherichia coli
nt06181  Salmonella
nt06182  Shigella
nt06464  Amyotrophic lateral sclerosis
nt06529  Thermogenesis
nt06539  Cytoskeleton in muscle cells
  Element
N00465  Deleted DMD to dystrophin-associated protein complex
N01066  ARNO-ARF-ACTB_G signaling pathway
N01067  Shigella IpgD to ARNO-ARF-ACTB_G signaling pathway
N01078  EGF-EGFR-Actin signaling pathway
N01079  Shigella IpaC to Actin signaling pathway
N01080  ITGA/B-TALIN/VINCULIN signaling pathway
N01081  Shigella IpaB/C/D to ITGA/B-TALIN/VINCULIN signaling pathway
N01086  Escherichia EspT to RAC signaling pathway
N01092  Escherichia Eae/Tir to Actin signaling pathway
N01094  Escherichia Eae/Tir/TccP to Actin signaling pathway
N01096  Escherichia Map to CDC42 signaling pathway
N01128  Salmonella SopE to RAC signaling pathway
N01129  Salmonella SopB to ARNO-ARF-ACTB/G signaling pathway
N01161  Actin polymerization
N01162  Mutation-caused aberrant PFN1 to actin polymerization
N01287  Tight junction-Actin signaling pathway
N01304  ANXA2-S100A10-regulated actin cytoskeleton
N01305  Salmonella SopB to ANXA2-S100A10-regulated actin cytoskeleton
N01688  ADRB3-UCP1 signaling pathway
N01815  Vinculin-talin-integrin macromolecular complex
Disease
H00978  Thrombocytopenia (THC)
H01255  Juvenile-onset dystonia
H02023  Baraitser-Winter syndrome
H02716  Becker nevus syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03082 ATP-dependent chromatin remodeling
    60 (ACTB)
 09130 Environmental Information Processing
  09132 Signal transduction
   04015 Rap1 signaling pathway
    60 (ACTB)
   04390 Hippo signaling pathway
    60 (ACTB)
 09140 Cellular Processes
  09141 Transport and catabolism
   04145 Phagosome
    60 (ACTB)
  09143 Cell growth and death
   04210 Apoptosis
    60 (ACTB)
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    60 (ACTB)
   04520 Adherens junction
    60 (ACTB)
   04530 Tight junction
    60 (ACTB)
  09142 Cell motility
   04814 Motor proteins
    60 (ACTB)
   04820 Cytoskeleton in muscle cells
    60 (ACTB)
   04810 Regulation of actin cytoskeleton
    60 (ACTB)
 09150 Organismal Systems
  09151 Immune system
   04611 Platelet activation
    60 (ACTB)
   04613 Neutrophil extracellular trap formation
    60 (ACTB)
   04670 Leukocyte transendothelial migration
    60 (ACTB)
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    60 (ACTB)
   04919 Thyroid hormone signaling pathway
    60 (ACTB)
  09154 Digestive system
   04971 Gastric acid secretion
    60 (ACTB)
  09159 Environmental adaptation
   04714 Thermogenesis
    60 (ACTB)
 09160 Human Diseases
  09161 Cancer: overview
   05205 Proteoglycans in cancer
    60 (ACTB)
  09162 Cancer: specific types
   05225 Hepatocellular carcinoma
    60 (ACTB)
  09172 Infectious disease: viral
   05164 Influenza A
    60 (ACTB)
  09171 Infectious disease: bacterial
   05110 Vibrio cholerae infection
    60 (ACTB)
   05130 Pathogenic Escherichia coli infection
    60 (ACTB)
   05132 Salmonella infection
    60 (ACTB)
   05131 Shigellosis
    60 (ACTB)
   05135 Yersinia infection
    60 (ACTB)
   05100 Bacterial invasion of epithelial cells
    60 (ACTB)
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    60 (ACTB)
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    60 (ACTB)
   05410 Hypertrophic cardiomyopathy
    60 (ACTB)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    60 (ACTB)
   05414 Dilated cardiomyopathy
    60 (ACTB)
   05416 Viral myocarditis
    60 (ACTB)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    60 (ACTB)
   03019 Messenger RNA biogenesis [BR:hsa03019]
    60 (ACTB)
   03036 Chromosome and associated proteins [BR:hsa03036]
    60 (ACTB)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    60 (ACTB)
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    60 (ACTB)
   04147 Exosome [BR:hsa04147]
    60 (ACTB)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Coactivators
    BAF/PBAF complex
     60 (ACTB)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Factors involved in mRNA localization
    Factors that have mRNA localization signals
     60 (ACTB)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HAT complexes
    TIP60 complex
     60 (ACTB)
    NuA4 complex
     60 (ACTB)
  Chromatin remodeling factors
   BAF complex
    60 (ACTB)
   PBAF complex
    60 (ACTB)
   GBAF(ncBAF) complex
    60 (ACTB)
   SWR1 complex
    60 (ACTB)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial dynamics
   Actin cytoskeleton organization
    60 (ACTB)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actins
    Actins
     60 (ACTB)
Exosome [BR:hsa04147]
 Exosomal proteins
  Proteins found in most exosomes
   60 (ACTB)
SSDB
Motif
Pfam: Actin
Other DBs
NCBI-GeneID: 60
NCBI-ProteinID: NP_001092
OMIM: 102630
HGNC: 132
Ensembl: ENSG00000075624
Pharos: P60709(Tbio)
UniProt: P60709 Q1KLZ0
Structure
LinkDB
Position
7:complement(5527148..5530601)
AA seq 375 aa
MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQS
KRGILTLKYPIEHGIVTNWDDMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMT
QIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEGYALPHAILRLDL
AGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSY
ELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLS
GGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQ
EYDESGPSIVHRKCF
NT seq 1128 nt   +upstreamnt  +downstreamnt
atggatgatgatatcgccgcgctcgtcgtcgacaacggctccggcatgtgcaaggccggc
ttcgcgggcgacgatgccccccgggccgtcttcccctccatcgtggggcgccccaggcac
cagggcgtgatggtgggcatgggtcagaaggattcctatgtgggcgacgaggcccagagc
aagagaggcatcctcaccctgaagtaccccatcgagcacggcatcgtcaccaactgggac
gacatggagaaaatctggcaccacaccttctacaatgagctgcgtgtggctcccgaggag
caccccgtgctgctgaccgaggcccccctgaaccccaaggccaaccgcgagaagatgacc
cagatcatgtttgagaccttcaacaccccagccatgtacgttgctatccaggctgtgcta
tccctgtacgcctctggccgtaccactggcatcgtgatggactccggtgacggggtcacc
cacactgtgcccatctacgaggggtatgccctcccccatgccatcctgcgtctggacctg
gctggccgggacctgactgactacctcatgaagatcctcaccgagcgcggctacagcttc
accaccacggccgagcgggaaatcgtgcgtgacattaaggagaagctgtgctacgtcgcc
ctggacttcgagcaagagatggccacggctgcttccagctcctccctggagaagagctac
gagctgcctgacggccaggtcatcaccattggcaatgagcggttccgctgccctgaggca
ctcttccagccttccttcctgggcatggagtcctgtggcatccacgaaactaccttcaac
tccatcatgaagtgtgacgtggacatccgcaaagacctgtacgccaacacagtgctgtct
ggcggcaccaccatgtaccctggcattgccgacaggatgcagaaggagatcactgccctg
gcacccagcacaatgaagatcaagatcattgctcctcctgagcgcaagtactccgtgtgg
atcggcggctccatcctggcctcgctgtccaccttccagcagatgtggatcagcaagcag
gagtatgacgagtccggcccctccatcgtccaccgcaaatgcttctag

KEGG   Homo sapiens (human): 6595
Entry
6595              CDS       T01001                                 
Symbol
SMARCA2, BAF190, BIS, BRM, NCBRS, SNF2, SNF2L2, SNF2LA, SWI2, Sth1p, hBRM, hSNF2a
Name
(RefSeq) SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
  KO
K11647  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2/4 [EC:5.6.2.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03082  ATP-dependent chromatin remodeling
hsa04714  Thermogenesis
hsa05225  Hepatocellular carcinoma
Network
nt06529  Thermogenesis
  Element
N01688  ADRB3-UCP1 signaling pathway
Disease
H01402  Nicolaides-Baraitser syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03082 ATP-dependent chromatin remodeling
    6595 (SMARCA2)
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    6595 (SMARCA2)
 09160 Human Diseases
  09162 Cancer: specific types
   05225 Hepatocellular carcinoma
    6595 (SMARCA2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    6595 (SMARCA2)
   03036 Chromosome and associated proteins [BR:hsa03036]
    6595 (SMARCA2)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Coactivators
    BAF/PBAF complex
     6595 (SMARCA2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HDAC complexes
    REST complex
     6595 (SMARCA2)
  Chromatin remodeling factors
   BAF complex
    6595 (SMARCA2)
   PBAF complex
    6595 (SMARCA2)
   GBAF(ncBAF) complex
    6595 (SMARCA2)
SSDB
Motif
Pfam: SNF2-rel_dom Helicase_C SnAC Bromodomain HSA BRK QLQ ResIII HDA2-3 DEAD
Other DBs
NCBI-GeneID: 6595
NCBI-ProteinID: NP_001276325
OMIM: 600014
HGNC: 11098
Ensembl: ENSG00000080503
Pharos: P51531(Tbio)
UniProt: P51531 Q8N9Q1 B4DSC8
Structure
LinkDB
Position
9:2015347..2193620
AA seq 1590 aa
MSTPTDPGAMPHPGPSPGPGPSPGPILGPSPGPGPSPGSVHSMMGPSPGPPSVSHPMPTM
GSTDFPQEGMHQMHKPIDGIHDKGIVEDIHCGSMKGTGMRPPHPGMGPPQSPMDQHSQGY
MSPHPSPLGAPEHVSSPMSGGGPTPPQMPPSQPGALIPGDPQAMSQPNRGPSPFSPVQLH
QLRAQILAYKMLARGQPLPETLQLAVQGKRTLPGLQQQQQQQQQQQQQQQQQQQQQQQPQ
QQPPQPQTQQQQQPALVNYNRPSGPGPELSGPSTPQKLPVPAPGGRPSPAPPAAAQPPAA
AVPGPSVPQPAPGQPSPVLQLQQKQSRISPIQKPQGLDPVEILQEREYRLQARIAHRIQE
LENLPGSLPPDLRTKATVELKALRLLNFQRQLRQEVVACMRRDTTLETALNSKAYKRSKR
QTLREARMTEKLEKQQKIEQERKRRQKHQEYLNSILQHAKDFKEYHRSVAGKIQKLSKAV
ATWHANTEREQKKETERIEKERMRRLMAEDEEGYRKLIDQKKDRRLAYLLQQTDEYVANL
TNLVWEHKQAQAAKEKKKRRRRKKKAEENAEGGESALGPDGEPIDESSQMSDLPVKVTHT
ETGKVLFGPEAPKASQLDAWLEMNPGYEVAPRSDSEESDSDYEEEDEEEESSRQETEEKI
LLDPNSEEVSEKDAKQIIETAKQDVDDEYSMQYSARGSQSYYTVAHAISERVEKQSALLI
NGTLKHYQLQGLEWMVSLYNNNLNGILADEMGLGKTIQTIALITYLMEHKRLNGPYLIIV
PLSTLSNWTYEFDKWAPSVVKISYKGTPAMRRSLVPQLRSGKFNVLLTTYEYIIKDKHIL
AKIRWKYMIVDEGHRMKNHHCKLTQVLNTHYVAPRRILLTGTPLQNKLPELWALLNFLLP
TIFKSCSTFEQWFNAPFAMTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPE
KVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNTIMQLRKICNHPY
MFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMT
IMEDYFAFRNFLYLRLDGTTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADT
VVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAAKYKLNVDQKVIQ
AGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDR
RREDARNPKRKPRLMEEDELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDAL
TEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRRGRPPAEKLSPNP
PKLTKQMNAIIDTVINYKDRCNVEKVPSNSQLEIEGNSSGRQLSEVFIQLPSRKELPEYY
ELIRKPVDFKKIKERIRNHKYRSLGDLEKDVMLLCHNAQTFNLEGSQIYEDSIVLQSVFK
SARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKRPNR
GKAKPVVSDFDSDEEQDEREQSEGSGTDDE
NT seq 4773 nt   +upstreamnt  +downstreamnt
atgtccacgcccacagaccctggtgcgatgccccacccagggccttcgccggggcctggg
ccttcccctgggccaattcttgggcctagtccaggaccaggaccatccccaggttccgtc
cacagcatgatggggccaagtcctggacctccaagtgtctcccatcctatgccgacgatg
gggtccacagacttcccacaggaaggcatgcatcaaatgcataagcccatcgatggtata
catgacaaggggattgtagaagacatccattgtggatccatgaagggcactggtatgcga
ccacctcacccaggcatgggccctccccagagtccaatggatcaacacagccaaggttat
atgtcaccacacccatctccattaggagccccagagcacgtctccagccctatgtctgga
ggaggcccaactccacctcagatgccaccaagccagccgggggccctcatcccaggtgat
ccgcaggccatgagccagcccaacagaggtccctcacctttcagtcctgtccagctgcat
cagcttcgagctcagattttagcttataaaatgctggcccgaggccagcccctccccgaa
acgctgcagcttgcagtccaggggaaaaggacgttgcctggcttgcagcaacaacagcag
cagcaacagcagcagcagcagcagcagcagcagcagcagcagcagcaacagcagccgcag
cagcagccgccgcaaccacagacgcagcaacaacagcagccggcccttgttaactacaac
agaccatctggcccggggccggagctgagcggcccgagcaccccgcagaagctgccggtg
cccgcgcccggcggccggccctcgcccgcgccccccgcagccgcgcagccgcccgcggcc
gcagtgcccgggccctcagtgccgcagccggccccggggcagccctcgcccgtcctccag
ctgcagcagaagcagagccgcatcagccccatccagaaaccgcaaggcctggaccccgtg
gaaattctgcaagagcgggaatacagacttcaggcccgcatagctcataggatacaagaa
ctggaaaatctgcctggctctttgccaccagatttaagaaccaaagcaaccgtggaacta
aaagcacttcggttactcaatttccagcgtcagctgagacaggaggtggtggcctgcatg
cgcagggacacgaccctggagacggctctcaactccaaagcatacaaacggagcaagcgc
cagactctgagagaagctcgcatgaccgagaagctggagaagcagcagaagattgagcag
gagaggaaacgccgtcagaaacaccaggaatacctgaacagtattttgcaacatgcaaaa
gattttaaggaatatcatcggtctgtggccggaaagatccagaagctctccaaagcagtg
gcaacttggcatgccaacactgaaagagagcagaagaaggagacagagcggattgaaaag
gagagaatgcggcgactgatggctgaagatgaggagggttatagaaaactgattgatcaa
aagaaagacaggcgtttagcttaccttttgcagcagaccgatgagtatgtagccaatctg
accaatctggtttgggagcacaagcaagcccaggcagccaaagagaagaagaagaggagg
aggaggaagaagaaggctgaggagaatgcagagggtggggagtctgccctgggaccggat
ggagagcccatagatgagagcagccagatgagtgacctccctgtcaaagtgactcacaca
gaaaccggcaaggttctgttcggaccagaagcacccaaagcaagtcagctggacgcctgg
ctggaaatgaatcctggttatgaagttgcccctagatctgacagtgaagagagtgattct
gattatgaggaagaggatgaggaagaagagtccagtaggcaggaaaccgaagagaaaata
ctcctggatccaaatagcgaagaagtttctgagaaggatgctaagcagatcattgagaca
gctaagcaagacgtggatgatgaatacagcatgcagtacagtgccaggggctcccagtcc
tactacaccgtggctcatgccatctcggagagggtggagaaacagtctgccctcctaatt
aatgggaccctaaagcattaccagctccagggcctggaatggatggtttccctgtataat
aacaacttgaacggaatcttagccgatgaaatggggcttggaaagaccatacagaccatt
gcactcatcacttatctgatggagcacaaaagactcaatggcccctatctcatcattgtt
cccctttcgactctatctaactggacatatgaatttgacaaatgggctccttctgtggtg
aagatttcttacaagggtactcctgccatgcgtcgctcccttgtcccccagctacggagt
ggcaaattcaatgtcctcttgactacttatgagtatattataaaagacaagcacattctt
gcaaagattcggtggaaatacatgatagtggacgaaggccaccgaatgaagaatcaccac
tgcaagctgactcaggtcttgaacactcactatgtggcccccagaaggatcctcttgact
gggaccccgctgcagaataagctccctgaactctgggccctcctcaacttcctcctccca
acaatttttaagagctgcagcacatttgaacaatggttcaatgctccatttgccatgact
ggtgaaagggtggacttaaatgaagaagaaactatattgatcatcaggcgtctacataag
gtgttaagaccatttttactaaggagactgaagaaagaagttgaatcccagcttcccgaa
aaagtggaatatgtgatcaagtgtgacatgtcagctctgcagaagattctgtatcgccat
atgcaagccaaggggatccttctcacagatggttctgagaaagataagaaggggaaagga
ggtgctaagacacttatgaacactattatgcagttgagaaaaatctgcaaccacccatat
atgtttcagcacattgaggaatcctttgctgaacacctaggctattcaaatggggtcatc
aatggggctgaactgtatcgggcctcagggaagtttgagctgcttgatcgtattctgcca
aaattgagagcgactaatcaccgagtgctgcttttctgccagatgacatctctcatgacc
atcatggaggattattttgcttttcggaacttcctttacctacgccttgatggcaccacc
aagtctgaagatcgtgctgctttgctgaagaaattcaatgaacctggatcccagtatttc
attttcttgctgagcacaagagctggtggcctgggcttaaatcttcaggcagctgataca
gtggtcatctttgacagcgactggaatcctcatcaggatctgcaggcccaagaccgagct
caccgcatcgggcagcagaacgaggtccgggtactgaggctctgtaccgtgaacagcgtg
gaggaaaagatcctcgcggccgcaaaatacaagctgaacgtggatcagaaagtgatccag
gcgggcatgtttgaccaaaagtcttcaagccacgagcggagggcattcctgcaggccatc
ttggagcatgaggaggaaaatgaggaagaagatgaagtaccggacgatgagactctgaac
caaatgattgctcgacgagaagaagaatttgacctttttatgcggatggacatggaccgg
cggagggaagatgcccggaacccgaaacggaagccccgtttaatggaggaggatgagctg
ccctcctggatcattaaggatgacgctgaagtagaaaggctcacctgtgaagaagaggag
gagaaaatatttgggagggggtcccgccagcgccgtgacgtggactacagtgacgccctc
acggagaagcagtggctaagggccatcgaagacggcaatttggaggaaatggaagaggaa
gtacggcttaagaagcgaaaaagacgaagaaatgtggataaagatcctgcaaaagaagat
gtggaaaaagctaagaagagaagaggccgccctcccgctgagaaactgtcaccaaatccc
cccaaactgacaaagcagatgaacgctatcatcgatactgtgataaactacaaagatagg
tgtaacgtggagaaggtgcccagtaattctcagttggaaatagaaggaaacagttcaggg
cgacagctcagtgaagtcttcattcagttaccttcaaggaaagaattaccagaatactat
gaattaattaggaagccagtggatttcaaaaaaataaaggaaaggattcgtaatcataag
taccggagcctaggcgacctggagaaggatgtcatgcttctctgtcacaacgctcagacg
ttcaacctggagggatcccagatctatgaagactccatcgtcttacagtcagtgtttaag
agtgcccggcagaaaattgccaaagaggaagagagtgaggatgaaagcaatgaagaggag
gaagaggaagatgaagaagagtcagagtccgaggcaaaatcagtcaaggtgaaaattaag
ctcaataaaaaagatgacaaaggccgggacaaagggaaaggcaagaaaaggccaaatcga
ggaaaagccaaacctgtagtgagcgattttgacagcgatgaggagcaggatgaacgtgaa
cagtcagaaggaagtgggacggatgatgagtga

KEGG   Homo sapiens (human): 6597
Entry
6597              CDS       T01001                                 
Symbol
SMARCA4, BAF190, BAF190A, BRG1, CSS4, MRD16, OTSC12, RTPS2, SNF2, SNF2-beta, SNF2L4, SNF2LB, SWI2, hSNF2b
Name
(RefSeq) SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  KO
K11647  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2/4 [EC:5.6.2.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03082  ATP-dependent chromatin remodeling
hsa04714  Thermogenesis
hsa05225  Hepatocellular carcinoma
Network
nt06529  Thermogenesis
  Element
N01688  ADRB3-UCP1 signaling pathway
Disease
H00773  Autosomal dominant intellectual developmental disorder
H01134  Rhabdoid predisposition syndrome
H01403  Coffin-Siris syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03082 ATP-dependent chromatin remodeling
    6597 (SMARCA4)
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    6597 (SMARCA4)
 09160 Human Diseases
  09162 Cancer: specific types
   05225 Hepatocellular carcinoma
    6597 (SMARCA4)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    6597 (SMARCA4)
   03036 Chromosome and associated proteins [BR:hsa03036]
    6597 (SMARCA4)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Coactivators
    BAF/PBAF complex
     6597 (SMARCA4)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HDAC complexes
    REST complex
     6597 (SMARCA4)
  Chromatin remodeling factors
   BAF complex
    6597 (SMARCA4)
   PBAF complex
    6597 (SMARCA4)
   GBAF(ncBAF) complex
    6597 (SMARCA4)
SSDB
Motif
Pfam: SNF2-rel_dom Helicase_C SnAC Bromodomain HSA BRK QLQ ResIII HDA2-3 DEAD DUF2009
Other DBs
NCBI-GeneID: 6597
NCBI-ProteinID: NP_001122316
OMIM: 603254
HGNC: 11100
Ensembl: ENSG00000127616
Pharos: P51532(Tbio)
UniProt: P51532 A7E2E1
Structure
LinkDB
Position
19:10961030..11062273
AA seq 1647 aa
MSTPDPPLGGTPRPGPSPGPGPSPGAMLGPSPGPSPGSAHSMMGPSPGPPSAGHPIPTQG
PGGYPQDNMHQMHKPMESMHEKGMSDDPRYNQMKGMGMRSGGHAGMGPPPSPMDQHSQGY
PSPLGGSEHASSPVPASGPSSGPQMSSGPGGAPLDGADPQALGQQNRGPTPFNQNQLHQL
RAQIMAYKMLARGQPLPDHLQMAVQGKRPMPGMQQQMPTLPPPSVSATGPGPGPGPGPGP
GPGPAPPNYSRPHGMGGPNMPPPGPSGVPPGMPGQPPGGPPKPWPEGPMANAAAPTSTPQ
KLIPPQPTGRPSPAPPAVPPAASPVMPPQTQSPGQPAQPAPMVPLHQKQSRITPIQKPRG
LDPVEILQEREYRLQARIAHRIQELENLPGSLAGDLRTKATIELKALRLLNFQRQLRQEV
VVCMRRDTALETALNAKAYKRSKRQSLREARITEKLEKQQKIEQERKRRQKHQEYLNSIL
QHAKDFKEYHRSVTGKIQKLTKAVATYHANTEREQKKENERIEKERMRRLMAEDEEGYRK
LIDQKKDKRLAYLLQQTDEYVANLTELVRQHKAAQVAKEKKKKKKKKKAENAEGQTPAIG
PDGEPLDETSQMSDLPVKVIHVESGKILTGTDAPKAGQLEAWLEMNPGYEVAPRSDSEES
GSEEEEEEEEEEQPQAAQPPTLPVEEKKKIPDPDSDDVSEVDARHIIENAKQDVDDEYGV
SQALARGLQSYYAVAHAVTERVDKQSALMVNGVLKQYQIKGLEWLVSLYNNNLNGILADE
MGLGKTIQTIALITYLMEHKRINGPFLIIVPLSTLSNWAYEFDKWAPSVVKVSYKGSPAA
RRAFVPQLRSGKFNVLLTTYEYIIKDKHILAKIRWKYMIVDEGHRMKNHHCKLTQVLNTH
YVAPRRLLLTGTPLQNKLPELWALLNFLLPTIFKSCSTFEQWFNAPFAMTGEKVDLNEEE
TILIIRRLHKVLRPFLLRRLKKEVEAQLPEKVEYVIKCDMSALQRVLYRHMQAKGVLLTD
GSEKDKKGKGGTKTLMNTIMQLRKICNHPYMFQHIEESFSEHLGFTGGIVQGLDLYRASG
KFELLDRILPKLRATNHKVLLFCQMTSLMTIMEDYFAYRGFKYLRLDGTTKAEDRGMLLK
TFNEPGSEYFIFLLSTRAGGLGLNLQSADTVIIFDSDWNPHQDLQAQDRAHRIGQQNEVR
VLRLCTVNSVEEKILAAAKYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEQDESR
HCSTGSGSASFAHTAPPPAGVNPDLEEPPLKEEDEVPDDETVNQMIARHEEEFDLFMRMD
LDRRREEARNPKRKPRLMEEDELPSWIIKDDAEVERLTCEEEEEKMFGRGSRHRKEVDYS
DSLTEKQWLKAIEEGTLEEIEEEVRQKKSSRKRKRDSDAGSSTPTTSTRSRDKDDESKKQ
KKRGRPPAEKLSPNPPNLTKKMKKIVDAVIKYKDSSSGRQLSEVFIQLPSRKELPEYYEL
IRKPVDFKKIKERIRNHKYRSLNDLEKDVMLLCQNAQTFNLEGSLIYEDSIVLQSVFTSV
RQKIEKEDDSEGEESEEEEEGEEEGSESESRSVKVKIKLGRKEKAQDRLKGGRRRPSRGS
RAKPVVSDDDSEEEQEEDRSGSGSEED
NT seq 4944 nt   +upstreamnt  +downstreamnt
atgtccactccagacccacccctgggcggaactcctcggccaggtccttccccgggccct
ggcccttcccctggagccatgctgggccctagcccgggtccctcgccgggctccgcccac
agcatgatggggcccagcccagggccgccctcagcaggacaccccatccccacccagggg
cctggagggtaccctcaggacaacatgcaccagatgcacaagcccatggagtccatgcat
gagaagggcatgtcggacgacccgcgctacaaccagatgaaaggaatggggatgcggtca
gggggccatgctgggatggggcccccgcccagccccatggaccagcactcccaaggttac
ccctcgcccctgggtggctctgagcatgcctctagtccagttccagccagtggcccgtct
tcggggccccagatgtcttccgggccaggaggtgccccgctggatggtgctgacccccag
gccttggggcagcagaaccggggcccaaccccatttaaccagaaccagctgcaccagctc
agagctcagatcatggcctacaagatgctggccagggggcagcccctccccgaccacctg
cagatggcggtgcagggcaagcggccgatgcccgggatgcagcagcagatgccaacgcta
cctccaccctcggtgtccgcaacaggacccggccctggccctggccctggccccggcccg
ggtcccggcccggcacctccaaattacagcaggcctcatggtatgggagggcccaacatg
cctcccccaggaccctcgggcgtgccccccgggatgccaggccagcctcctggagggcct
cccaagccctggcctgaaggacccatggcgaatgctgctgcccccacgagcacccctcag
aagctgattcccccgcagccaacgggccgcccttcccccgcgccccctgccgtcccaccc
gccgcctcgcccgtgatgccaccgcagacccagtcccccgggcagccggcccagcccgcg
cccatggtgccactgcaccagaagcagagccgcatcacccccatccagaagccgcggggc
ctcgaccctgtggagatcctgcaggagcgcgagtacaggctgcaggctcgcatcgcacac
cgaattcaggaacttgaaaaccttcccgggtccctggccggggatttgcgaaccaaagcg
accattgagctcaaggccctcaggctgctgaacttccagaggcagctgcgccaggaggtg
gtggtgtgcatgcggagggacacagcgctggagacagccctcaatgctaaggcctacaag
cgcagcaagcgccagtccctgcgcgaggcccgcatcactgagaagctggagaagcagcag
aagatcgagcaggagcgcaagcgccggcagaagcaccaggaatacctcaatagcattctc
cagcatgccaaggatttcaaggaatatcacagatccgtcacaggcaaaatccagaagctg
accaaggcagtggccacgtaccatgccaacacggagcgggagcagaagaaagagaacgag
cggatcgagaaggagcgcatgcggaggctcatggctgaagatgaggaggggtaccgcaag
ctcatcgaccagaagaaggacaagcgcctggcctacctcttgcagcagacagacgagtac
gtggctaacctcacggagctggtgcggcagcacaaggctgcccaggtcgccaaggagaaa
aagaagaaaaagaaaaagaagaaggcagaaaatgcagaaggacagacgcctgccattggg
ccggatggcgagcctctggacgagaccagccagatgagcgacctcccggtgaaggtgatc
cacgtggagagtgggaagatcctcacaggcacagatgcccccaaagccgggcagctggag
gcctggctcgagatgaacccggggtatgaagtagctccgaggtctgatagtgaagaaagt
ggctcagaagaagaggaagaggaggaggaggaagagcagccgcaggcagcacagcctccc
accctgcccgtggaggagaagaagaagattccagatccagacagcgatgacgtctctgag
gtggacgcgcggcacatcattgagaatgccaagcaagatgtcgatgatgaatatggcgtg
tcccaggcccttgcacgtggcctgcagtcctactatgccgtggcccatgctgtcactgag
agagtggacaagcagtcagcgcttatggtcaatggtgtcctcaaacagtaccagatcaaa
ggtttggagtggctggtgtccctgtacaacaacaacctgaacggcatcctggccgacgag
atgggcctggggaagaccatccagaccatcgcgctcatcacgtacctcatggagcacaaa
cgcatcaatgggcccttcctcatcatcgtgcctctctcaacgctgtccaactgggcgtac
gagtttgacaagtgggccccctccgtggtgaaggtgtcttacaagggatccccagcagca
agacgggcctttgtcccccagctccggagtgggaagttcaacgtcttgctgacgacgtac
gagtacatcatcaaagacaagcacatcctcgccaagatccgttggaagtacatgattgtg
gacgaaggtcaccgcatgaagaaccaccactgcaagctgacgcaggtgctcaacacgcac
tatgtggcaccccgccgcctgctgctgacgggcacaccgctgcagaacaagcttcccgag
ctctgggcgctgctcaacttcctgctgcccaccatcttcaagagctgcagcaccttcgag
cagtggtttaacgcaccctttgccatgaccggggaaaaggtggacctgaatgaggaggaa
accattctcatcatccggcgtctccacaaagtgctgcggcccttcttgctccgacgactc
aagaaggaagtcgaggcccagttgcccgaaaaggtggagtacgtcatcaagtgcgacatg
tctgcgctgcagcgagtgctctaccgccacatgcaggccaagggcgtgctgctgactgat
ggctccgagaaggacaagaagggcaaaggcggcaccaagaccctgatgaacaccatcatg
cagctgcggaagatctgcaaccacccctacatgttccagcacatcgaggagtccttttcc
gagcacttggggttcactggcggcattgtccaagggctggacctgtaccgagcctcgggt
aaatttgagcttcttgatagaattcttcccaaactccgagcaaccaaccacaaagtgctg
ctgttctgccaaatgacctccctcatgaccatcatggaagattactttgcgtatcgcggc
tttaaatacctcaggcttgatggaaccacgaaggcggaggaccggggcatgctgctgaaa
accttcaacgagcccggctctgagtacttcatcttcctgctcagcacccgggctgggggg
ctcggcctgaacctccagtcggcagacactgtgatcatttttgacagcgactggaatcct
caccaggacctgcaagcgcaggaccgagcccaccgcatcgggcagcagaacgaggtgcgt
gtgctccgcctctgcaccgtcaacagcgtggaggagaagatcctagctgcagccaagtac
aagctcaacgtggaccagaaggtgatccaggccggcatgttcgaccagaagtcctccagc
catgagcggcgcgccttcctgcaggccatcctggagcacgaggagcaggatgagagcaga
cactgcagcacgggcagcggcagtgccagcttcgcccacactgcccctccgccagcgggc
gtcaaccccgacttggaggagccacctctaaaggaggaagacgaggtgcccgacgacgag
accgtcaaccagatgatcgcccggcacgaggaggagtttgatctgttcatgcgcatggac
ctggaccgcaggcgcgaggaggcccgcaaccccaagcggaagccgcgcctcatggaggag
gacgagctcccctcgtggatcatcaaggacgacgcggaggtggagcggctgacctgtgag
gaggaggaggagaagatgttcggccgtggctcccgccaccgcaaggaggtggactacagc
gactcactgacggagaagcagtggctcaaggccatcgaggagggcacgctggaggagatc
gaagaggaggtccggcagaagaaatcatcacggaagcgcaagcgagacagcgacgccggc
tcctccaccccgaccaccagcacccgcagccgcgacaaggacgacgagagcaagaagcag
aagaagcgcgggcggccgcctgccgagaaactctcccctaacccacccaacctcaccaag
aagatgaagaagattgtggatgccgtgatcaagtacaaggacagcagcagtggacgtcag
ctcagcgaggtcttcatccagctgccctcgcgaaaggagctgcccgagtactacgagctc
atccgcaagcccgtggacttcaagaagataaaggagcgcattcgcaaccacaagtaccgc
agcctcaacgacctagagaaggacgtcatgctcctgtgccagaacgcacagaccttcaac
ctggagggctccctgatctatgaagactccatcgtcttgcagtcggtcttcaccagcgtg
cggcagaaaatcgagaaggaggatgacagtgaaggcgaggagagtgaggaggaggaagag
ggcgaggaggaaggctccgaatccgaatctcggtccgtcaaagtgaagatcaagcttggc
cggaaggagaaggcacaggaccggctgaagggcggccggcggcggccgagccgagggtcc
cgagccaagccggtcgtgagtgacgatgacagtgaggaggaacaagaggaggaccgctca
ggaagtggcagcgaagaagactga

KEGG   Homo sapiens (human): 6598
Entry
6598              CDS       T01001                                 
Symbol
SMARCB1, BAF47, CSS3, INI-1, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS
Name
(RefSeq) SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
  KO
K11648  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa03082  ATP-dependent chromatin remodeling
hsa03250  Viral life cycle - HIV-1
hsa04714  Thermogenesis
hsa05225  Hepatocellular carcinoma
Network
nt06529  Thermogenesis
  Element
N01688  ADRB3-UCP1 signaling pathway
Disease
H00773  Autosomal dominant intellectual developmental disorder
H01134  Rhabdoid predisposition syndrome
H01403  Coffin-Siris syndrome
H01556  Meningioma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03082 ATP-dependent chromatin remodeling
    6598 (SMARCB1)
  09125 Information processing in viruses
   03250 Viral life cycle - HIV-1
    6598 (SMARCB1)
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    6598 (SMARCB1)
 09160 Human Diseases
  09162 Cancer: specific types
   05225 Hepatocellular carcinoma
    6598 (SMARCB1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    6598 (SMARCB1)
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    6598 (SMARCB1)
   03036 Chromosome and associated proteins [BR:hsa03036]
    6598 (SMARCB1)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein serine/threonine phosphatases
  Phosphoprotein phosphatases (PPPs)
   Protein phosphatase-1
    PP1-interacting proteins (PIPs)
     6598 (SMARCB1)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Coactivators
    BAF/PBAF complex
     6598 (SMARCB1)
    SWI/SNF complex
     6598 (SMARCB1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   BAF complex
    6598 (SMARCB1)
   PBAF complex
    6598 (SMARCB1)
   SWI/SNF complex
    6598 (SMARCB1)
SSDB
Motif
Pfam: SNF5 INI1_DNA-bd DUF1679
Other DBs
NCBI-GeneID: 6598
NCBI-ProteinID: NP_003064
OMIM: 601607
HGNC: 11103
Ensembl: ENSG00000099956
Pharos: Q12824(Tbio)
UniProt: Q12824
Structure
LinkDB
Position
22:23786966..23838009
AA seq 385 aa
MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEER
KKIVASSHGKKTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYL
REQKAKRNSQWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENA
SQPEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASA
IRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSE
LGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWCPLLETLTDAE
MEKKIRDQDRNTRRMRRLANTAPAW
NT seq 1158 nt   +upstreamnt  +downstreamnt
atgatgatgatggcgctgagcaagaccttcgggcagaagcccgtgaagttccagctggag
gacgacggcgagttctacatgatcggctccgaggtgggaaactacctccgtatgttccga
ggttctctgtacaagagatacccctcactctggaggcgactagccactgtggaagagagg
aagaaaatagttgcatcgtcacatggtaaaaaaacaaaacctaacactaaggatcacgga
tacacgactctagccaccagtgtgaccctgttaaaagcctcggaagtggaagagattctg
gatggcaacgatgagaagtacaaggctgtgtccatcagcacagagccccccacctacctc
agggaacagaaggccaagaggaacagccagtgggtacccaccctgcccaacagctcccac
cacttagatgccgtgccatgctccacaaccatcaacaggaaccgcatgggccgagacaag
aagagaaccttccccctttgctttgatgaccatgacccagctgtgatccatgagaacgca
tctcagcccgaggtgctggtccccatccggctggacatggagatcgatgggcagaagctg
cgagacgccttcacctggaacatgaatgagaagttgatgacgcctgagatgttttcagaa
atcctctgtgacgatctggatttgaacccgctgacgtttgtgccagccatcgcctctgcc
atcagacagcagatcgagtcctaccccacggacagcatcctggaggaccagtcagaccag
cgcgtcatcatcaagctgaacatccatgtgggaaacatttccctggtggaccagtttgag
tgggacatgtcagagaaggagaactcaccagagaagtttgccctgaagctgtgctcggag
ctggggttgggcggggagtttgtcaccaccatcgcatacagcatccggggacagctgagc
tggcatcagaagacctacgccttcagcgagaaccctctgcccacagtggagattgccatc
cggaacacgggcgatgcggaccagtggtgcccactgctggagactctgacagacgctgag
atggagaagaagatccgcgaccaggacaggaacacgaggcggatgaggcgtcttgccaac
acggccccggcctggtaa

KEGG   Homo sapiens (human): 6599
Entry
6599              CDS       T01001                                 
Symbol
SMARCC1, BAF155, CRACC1, HYC5, Rsc8, SRG3, SWI3
Name
(RefSeq) SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1
  KO
K11649  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C
Organism
hsa  Homo sapiens (human)
Pathway
hsa03082  ATP-dependent chromatin remodeling
hsa04714  Thermogenesis
hsa05225  Hepatocellular carcinoma
Network
nt06529  Thermogenesis
  Element
N01688  ADRB3-UCP1 signaling pathway
Disease
H01677  Congenital hydrocephalus
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03082 ATP-dependent chromatin remodeling
    6599 (SMARCC1)
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    6599 (SMARCC1)
 09160 Human Diseases
  09162 Cancer: specific types
   05225 Hepatocellular carcinoma
    6599 (SMARCC1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    6599 (SMARCC1)
   03036 Chromosome and associated proteins [BR:hsa03036]
    6599 (SMARCC1)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Coactivators
    BAF/PBAF complex
     6599 (SMARCC1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   BAF complex
    6599 (SMARCC1)
   PBAF complex
    6599 (SMARCC1)
   GBAF(ncBAF) complex
    6599 (SMARCC1)
SSDB
Motif
Pfam: SWIRM-assoc_2 SWIRM-assoc_3 SWIRM-assoc_1 SWIRM Myb_DNA-binding Myb_DNA-bind_6 Chromo BRCT_2 DUF919 SpeFL
Other DBs
NCBI-GeneID: 6599
NCBI-ProteinID: NP_003065
OMIM: 601732
HGNC: 11104
Ensembl: ENSG00000173473
Pharos: Q92922(Tbio)
UniProt: Q92922 Q58EY4
Structure
LinkDB
Position
3:complement(47585269..47781893)
AA seq 1105 aa
MAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLG
KHYKKYVHADAPTNKTLAGLVVQLLQFQEDAFGKHVTNPAFTKLPAKCFMDFKAGGALCH
ILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYLIPDIDLKL
ANKLKDIIKRHQGTFTDEKSKASHHIYPYSSSQDDEEWLRPVMRKEKQVLVHWGFYPDSY
DTWVHSNDVDAEIEDPPIPEKPWKVHVKWILDTDIFNEWMNEEDYEVDENRKPVSFRQRI
STKNEEPVRSPERRDRKASANARKRKHSPSPPPPTPTESRKKSGKKGQASLYGKRRSQKE
EDEQEDLTKDMEDPTPVPNIEEVVLPKNVNLKKDSENTPVKGGTVADLDEQDEETVTAGG
KEDEDPAKGDQSRSVDLGEDNVTEQTNHIIIPSYASWFDYNCIHVIERRALPEFFNGKNK
SKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLTGDVCAVMRVHAFLEQWGLVNYQVD
PESRPMAMGPPPTPHFNVLADTPSGLVPLHLRSPQVPAAQQMLNFPEKNKEKPVDLQNFG
LRTDIYSKKTLAKSKGASAGREWTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILH
FLRLPIEDPYLENSDASLGPLAYQPVPFSQSGNPVMSTVAFLASVVDPRVASAAAKAALE
EFSRVREEVPLELVEAHVKKVQEAARASGKVDPTYGLESSCIAGTGPDEPEKLEGAEEEK
MEADPDGQQPEKAENKVENETDEGDKAQDGENEKNSEKEQDSEVSEDTKSEEKETEENKE
LTDTCKERESDTGKKKVEHEISEGNVATAAAAALASAATKAKHLAAVEERKIKSLVALLV
ETQMKKLEIKLRHFEELETIMDREKEALEQQRQQLLTERQNFHMEQLKYAELRARQQMEQ
QQHGQNPQQAHQHSGGPGLAPLGAAGHPGMMPHQQPPPYPLMHHQMPPPHPPQPGQIPGP
GSMMPGQHMPGRMIPTVAANIHPSGSGPTPPGMPPMPGNILGPRVPLTAPNGMYPPPPQQ
QPPPPPPADGVPPPPAPGPPASAAP
NT seq 3318 nt   +upstreamnt  +downstreamnt
atggccgcagcggcgggcggcggcgggccggggacagcggtaggcgccacgggctcgggg
attgcggcggcagccgcaggcctagctgtttatcgacggaaggatgggggcccggccacc
aagttttgggagagcccggagacggtgtcccagctggattcggtgcgggtctggctgggc
aagcactacaagaagtatgttcatgcggatgctcctaccaataaaacactggctgggctg
gtggtgcagcttcttcagttccaggaagatgcctttgggaagcatgtcaccaacccggcc
ttcaccaaactccctgcaaagtgtttcatggatttcaaagctggaggcgccttatgtcac
attcttggggctgcttacaagtataaaaatgaacagggatggcggaggtttgacctacag
aacccatctcgaatggatcgtaatgtggaaatgtttatgaacattgaaaaaacattggtg
cagaacaattgtttgaccagacccaacatctacctcattccagacattgatctgaagttg
gctaacaaattgaaagatatcatcaaacgacatcagggaacatttacggatgagaagtca
aaagcttcccaccacatttacccatattcttcctcacaagacgatgaagaatggttgaga
ccggtgatgagaaaagagaagcaagtgttagtgcattggggcttttacccagacagctat
gatacttgggtccatagtaatgatgttgatgctgaaattgaagatccaccaattccagaa
aaaccatggaaggttcatgtgaaatggattttggacactgatattttcaatgaatggatg
aatgaggaggattatgaggtggatgaaaataggaagcctgtgagttttcgtcagcggatt
tcaaccaagaatgaagagccagtcagaagtccagaaagaagagatagaaaagcatcagct
aatgctcgaaagaggaaacattcgccttcgcctccccctccgacaccaacagaatcacgg
aagaagagtgggaagaaaggccaagctagcctttatgggaagcgcagaagtcagaaagag
gaagatgagcaagaagatctaaccaaggatatggaagacccaacacctgtacccaatata
gaagaagtagtacttcccaaaaatgtgaacctaaagaaagatagtgaaaatacacctgtt
aaaggaggaactgtagcggatctagatgagcaggatgaagaaacagtcacagcaggagga
aaggaagatgaagatcctgccaaaggtgatcagagtcgatcagttgaccttggggaagat
aatgtgacagagcagaccaatcacattattattcctagttatgcatcatggtttgattat
aactgtattcatgtgattgaacggcgtgctcttcctgagttcttcaatggaaaaaacaaa
tccaagactccagaaatatacttggcatatcgaaattttatgattgacacgtatcgtcta
aacccccaagagtatttaactagcactgcttgtcggaggaacttgactggagatgtgtgt
gctgtgatgagggtccatgcctttttagagcagtggggactcgttaattaccaagttgac
ccggaaagtagacccatggcaatgggacctcctcctactcctcattttaatgtattagct
gataccccctctgggcttgtgcctctgcatcttcgatcacctcaggttcctgctgctcaa
cagatgctaaattttcctgagaaaaacaaggaaaaaccagttgatttgcagaactttggt
ctccgtactgacatttactccaagaaaacattagcaaagagtaaaggtgctagtgctgga
agagaatggactgaacaggagacccttctactcctggaggccctggagatgtacaaggat
gattggaacaaagtgtcggaacatgttggaagtcgtactcaggatgaatgcatcctccac
tttttgagacttcccattgaggacccataccttgagaattcagatgcttcccttgggcct
ttggcctaccagcctgtccccttcagtcagtcaggaaatccagttatgagtactgttgct
tttttggcatctgtggtggaccctcgcgtggcatctgctgcagcaaaagcggctttggag
gagttttctcgggtccgggaggaggtaccactggaattggttgaagctcatgtcaagaaa
gtacaagaagcagcacgagcctctgggaaagtggatcccacctacggtctggagagcagc
tgcattgcaggcacagggcccgatgagccagagaagcttgaaggagctgaagaggaaaaa
atggaagccgaccctgatggtcagcagcctgaaaaggcagaaaataaagtggaaaatgaa
acggatgaaggtgataaagcacaagatggagaaaatgaaaaaaatagtgaaaaggaacag
gatagtgaagtgagtgaggataccaaatcagaagaaaaggagactgaagagaacaaagaa
ctcactgatacatgtaaagaaagagaaagtgatactgggaagaagaaagtagaacatgaa
atttccgaaggaaatgttgccacagccgcagcagctgctcttgcctcagcggctaccaaa
gccaagcacctggctgcagtggaagaaagaaagatcaagtccctggtagctctcttggtt
gagacacaaatgaagaaactagagatcaaacttcgacattttgaagagctggaaactatc
atggacagagagaaagaagctctagaacaacagaggcagcagttgcttactgaacgccaa
aacttccacatggaacagctgaagtatgctgaattacgagcacgacagcaaatggaacag
cagcagcatggccagaaccctcaacaggcacaccagcactcaggaggacctggcctggcc
ccacttggagcagcagggcaccctggcatgatgcctcatcaacagccccctccctaccct
ctgatgcaccaccagatgccaccacctcatccaccccagccaggtcagataccaggccca
ggttccatgatgcccgggcagcacatgccaggccgcatgattcccactgttgcagccaac
atccacccctctgggagtggccctacccctcctggcatgccaccaatgccaggaaacatc
ttaggaccccgggtacccctgacagcacctaacggcatgtatccccctccaccacagcag
cagccaccgccaccaccacctgcagatggggtccctccgcctcctgctcctggcccgcca
gcctcagctgctccttag

KEGG   Homo sapiens (human): 6601
Entry
6601              CDS       T01001                                 
Symbol
SMARCC2, BAF170, CRACC2, CSS8, Rsc8
Name
(RefSeq) SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2
  KO
K11649  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C
Organism
hsa  Homo sapiens (human)
Pathway
hsa03082  ATP-dependent chromatin remodeling
hsa04714  Thermogenesis
hsa05225  Hepatocellular carcinoma
Network
nt06529  Thermogenesis
  Element
N01688  ADRB3-UCP1 signaling pathway
Disease
H01403  Coffin-Siris syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03082 ATP-dependent chromatin remodeling
    6601 (SMARCC2)
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    6601 (SMARCC2)
 09160 Human Diseases
  09162 Cancer: specific types
   05225 Hepatocellular carcinoma
    6601 (SMARCC2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    6601 (SMARCC2)
   03036 Chromosome and associated proteins [BR:hsa03036]
    6601 (SMARCC2)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Coactivators
    BAF/PBAF complex
     6601 (SMARCC2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   BAF complex
    6601 (SMARCC2)
   PBAF complex
    6601 (SMARCC2)
   GBAF(ncBAF) complex
    6601 (SMARCC2)
SSDB
Motif
Pfam: SWIRM-assoc_2 SWIRM-assoc_3 SWIRM SWIRM-assoc_1 Myb_DNA-binding Myb_DNA-bind_6 Chromo CD99L2
Other DBs
NCBI-GeneID: 6601
NCBI-ProteinID: NP_003066
OMIM: 601734
HGNC: 11105
Ensembl: ENSG00000139613
Pharos: Q8TAQ2(Tbio)
UniProt: Q8TAQ2
Structure
LinkDB
Position
12:complement(56162359..56189483)
AA seq 1214 aa
MAVRKKDGGPNVKYYEAADTVTQFDNVRLWLGKNYKKYIQAEPPTNKSLSSLVVQLLQFQ
EEVFGKHVSNAPLTKLPIKCFLDFKAGGSLCHILAAAYKFKSDQGWRRYDFQNPSRMDRN
VEMFMTIEKSLVQNNCLSRPNIFLCPEIEPKLLGKLKDIIKRHQGTVTEDKNNASHVVYP
VPGNLEEEEWVRPVMKRDKQVLLHWGYYPDSYDTWIPASEIEASVEDAPTPEKPRKVHAK
WILDTDTFNEWMNEEDYEVNDDKNPVSRRKKISAKTLTDEVNSPDSDRRDKKGGNYKKRK
RSPSPSPTPEAKKKNAKKGPSTPYTKSKRGHREEEQEDLTKDMDEPSPVPNVEEVTLPKT
VNTKKDSESAPVKGGTMTDLDEQEDESMETTGKDEDENSTGNKGEQTKNPDLHEDNVTEQ
THHIIIPSYAAWFDYNSVHAIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEY
LTSTACRRNLAGDVCAIMRVHAFLEQWGLINYQVDAESRPTPMGPPPTSHFHVLADTPSG
LVPLQPKTPQQTSASQQMLNFPDKGKEKPTDMQNFGLRTDMYTKKNVPSKSKAAASATRE
WTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILHFLRLPIEDPYLEDSEASLGPLA
YQPIPFSQSGNPVMSTVAFLASVVDPRVASAAAKSALEEFSKMKEEVPTALVEAHVRKVE
EAAKVTGKADPAFGLESSGIAGTTSDEPERIEESGNDEARVEGQATDEKKEPKEPREGGG
AIEEEAKEKTSEAPKKDEEKGKEGDSEKESEKSDGDPIVDPEKEKEPKEGQEEVLKEVVE
SEGERKTKVERDIGEGNLSTAAAAALAAAAVKAKHLAAVEERKIKSLVALLVETQMKKLE
IKLRHFEELETIMDREREALEYQRQQLLADRQAFHMEQLKYAEMRARQQHFQQMHQQQQQ
PPPALPPGSQPIPPTGAAGPPAVHGLAVAPASVVPAPAGSGAPPGSLGPSEQIGQAGSTA
GPQQQQPAGAPQPGAVPPGVPPPGPHGPSPFPNQQTPPSMMPGAVPGSGHPGVAGNAPLG
LPFGMPPPPPPPAPSIIPFGSLADSISINLPAPPNLHGHHHHLPFAPGTLPPPNLPVSMA
NPLHPNLPATTTMPSSLPLGPGLGSAAAQSPAIVAAVQGNLLPSASPLPDPGTPLPPDPT
APSPGTVTPVPPPQ
NT seq 3645 nt   +upstreamnt  +downstreamnt
atggcggtgcggaagaaggacggcggccccaacgtgaagtactacgaggccgcggacacc
gtgacccagttcgacaacgtgcggctgtggctcggcaagaactacaagaagtatatacaa
gctgaaccacccaccaacaagtccctgtctagcctggttgtacagttgctacaatttcag
gaagaagtttttggcaaacatgtcagcaatgcaccgctcactaaactgccgatcaaatgt
ttcctagatttcaaagcgggaggctccttgtgccacattcttgcagctgcctacaaattc
aagagtgaccagggatggcggcgttacgatttccagaatccatcacgcatggaccgcaat
gtggaaatgtttatgaccattgagaagtccttggtgcagaataattgcctgtctcgacct
aacatttttctgtgcccagaaattgagcccaaactactagggaaattaaaggacattatc
aagagacaccagggaacagtcactgaggataagaacaatgcctcccatgttgtgtatcct
gtcccggggaatctagaagaagaggaatgggtacgaccagtcatgaagagggataagcag
gttcttctgcactggggctactatcctgacagttacgacacgtggatcccagcgagtgaa
attgaggcatctgtggaagatgctccaactcctgagaaacctaggaaggttcatgcaaag
tggatcctggacaccgacaccttcaatgaatggatgaatgaggaagactatgaagtaaat
gatgacaaaaaccctgtctcccgccgaaagaagatttcagccaagacactgacagatgag
gtgaacagcccagattcagatcgacgggacaagaaggggggaaactataagaagaggaag
cgctccccctctccttcaccaaccccagaagcaaagaagaaaaatgctaagaaaggtccc
tcaacaccttacactaagtcaaagcgtggccacagagaagaggagcaagaagacctgaca
aaggacatggacgagccctcaccagtccccaatgtagaagaggtgacacttcccaaaaca
gtcaacacaaagaaagactcagagtcggccccagtcaaaggcggcaccatgaccgacctg
gatgaacaggaagatgaaagcatggagacgacgggcaaggatgaggatgagaacagtacg
gggaacaagggagagcagaccaagaatccagacctgcatgaggacaatgtgactgaacag
acccaccacatcatcattcccagctacgctgcctggtttgactacaatagtgttcatgcc
attgagcggagggctctccccgagttcttcaacggcaagaacaagtccaagactccagag
atctacctggcctatcgaaactttatgattgacacttaccgactgaacccccaagagtat
cttacctctaccgcctgccgccgaaacctagcgggtgatgtctgtgccatcatgagggtc
catgccttcctagaacagtggggtcttattaactaccaggtggatgctgagagtcgacca
accccaatggggcctccgcctacctctcacttccatgtcttggctgacacaccatcaggg
ctggtgcctctgcagcccaagacacctcagcagacctctgcttcccaacaaatgctcaac
tttcctgacaaaggcaaagagaaaccaacagacatgcaaaactttgggctgcgcacagac
atgtacacaaaaaagaatgttccctccaagagcaaggctgcagccagtgccactcgtgag
tggacagaacaggaaaccctgcttctcctggaggcactggaaatgtacaaagatgactgg
aacaaagtgtccgagcatgtgggaagccgcacacaggacgagtgcatcttgcattttctt
cgtcttcccattgaagacccatacctggaggactcagaggcctccctaggccccctggcc
taccaacccatccccttcagtcagtcgggcaaccctgttatgagcactgttgccttcctg
gcctctgtcgtcgatccccgagtcgcctctgctgctgcaaagtcagccctagaggagttc
tccaaaatgaaggaagaggtacccacggccttggtggaggcccatgttcgaaaagtggaa
gaagcagccaaagtaacaggcaaggcggaccctgccttcggtctggaaagcagtggcatt
gcaggaaccacctctgatgagcctgagcggattgaggagagcgggaatgacgaggctcgg
gtggaaggccaggccacagatgagaagaaggagcccaaggaaccccgagaaggagggggt
gctatagaggaggaagcaaaagagaaaaccagcgaggctcccaagaaggatgaggagaaa
gggaaagaaggcgacagtgagaaggagtccgagaagagtgatggagacccaatagtcgat
cctgagaaggagaaggagccaaaggaagggcaggaggaagtgctgaaggaagtggtggag
tctgagggggaaaggaagacaaaggtggagcgggacattggcgagggcaacctctccacc
gctgctgccgccgccctggccgccgccgcagtgaaagctaagcacttggctgctgttgag
gaaaggaagatcaaatctttggtggccctgctggtggagacccagatgaaaaagttggag
atcaaacttcggcactttgaggagctggagactatcatggaccgggagcgagaagcactg
gagtatcagaggcagcagctcctggccgacagacaagccttccacatggagcagctgaag
tatgcggagatgagggctcggcagcagcacttccaacagatgcaccaacagcagcagcag
ccaccaccagccctgcccccaggctcccagcctatccccccaacaggggctgctgggcca
cccgcagtccatggcttggctgtggctccagcctctgtagtccctgctcctgctggcagt
ggggcccctccaggaagtttgggcccttctgaacagattgggcaggcagggtcaactgca
gggccacagcagcagcaaccagctggagccccccagcctggggcagtcccaccaggggtt
cccccccctggaccccatggcccctcaccgttccccaaccaacaaactcctccctcaatg
atgccaggggcagtgccaggcagcgggcacccaggcgtggcgggtaatgctcctttgggt
ttgccttttggcatgccgcctcctcctcctcctcctgctccatccatcatcccatttggt
agtctagctgactccatcagtattaacctccccgctcctcctaacctgcatgggcatcac
caccatctcccgttcgccccgggcactctccccccacctaacctgcctgtgtccatggcg
aaccctctacatcctaacctgccggcgaccaccaccatgccatcttccttgcctctcggg
ccggggctcggatccgccgcagcccaaagccctgccattgtggcagctgttcagggcaac
ctcctgcccagtgccagcccactgccagacccaggcacccccctgcctccagaccccaca
gccccgagcccaggcacggtcacccctgtgccacctccacagtga

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