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 BAF chromatin remodeling complex subunit ATPase 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
H02828  Otosclerosis
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
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

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