KEGG   Homo sapiens (human): 80816
Entry
80816             CDS       T01001                                 
Symbol
ASXL3, BRPS, KIAA1713
Name
(RefSeq) ASXL transcriptional regulator 3
  KO
K11471  additional sex combs-like protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa03083  Polycomb repressive complex
Network
nt06523  Epigenetic regulation by Polycomb complexes
  Element
N01585  Deubiquitination of H2AK119
Disease
H02382  Bainbridge-Ropers syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03083 Polycomb repressive complex
    80816 (ASXL3)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    80816 (ASXL3)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   Polycomb repressive complex (PRC) and associated proteins
    PR-DUB complex
     80816 (ASXL3)
SSDB
Motif
Pfam: ASXH HARE-HTH PHD_3
Other DBs
NCBI-GeneID: 80816
NCBI-ProteinID: NP_085135
OMIM: 615115
HGNC: 29357
Ensembl: ENSG00000141431
UniProt: Q9C0F0
LinkDB
Position
18:33578219..33751195
AA seq 2248 aa
MKDKRKKKDRTWAEAARLALEKHPNSPMTAKQILEVIQKEGLKETSGTSPLACLNAMLHT
NTRIGDGTFFKIPGKSGLYALKKEESSCPADGTLDLVCESELDGTDMAEANAHGEENGVC
SKQVTDEASSTRDSSLTNTAVQSKLVSSFQQHTKKALKQALRQQQKRRNGVSMMVNKTVP
RVVLTPLKVSDEQSDSPSGSESKNGEADSSDKEMKHGQKSPTGKQTSQHLKRLKKSGLGH
LKWTKAEDIDIETPGSILVNTNLRALINKHTFASLPQHFQQYLLLLLPEVDRQMGSDGIL
RLSTSALNNEFFAYAAQGWKQRLAEGEFTPEMQLRIRQEIEKEKKTEPWKEKFFERFYGE
KLGMSREESVKLTTGPNNAGAQSSSSCGTSGLPVSAQTALAEQQPKSMKSPASPEPGFCA
TLCPMVEIPPKDIMAELESEDILIPEESVIQEEIAEEVETSICECQDENHKTIPEFSEEA
ESLTNSHEEPQIAPPEDNLESCVMMNDVLETLPHIEVKIEGKSESPQEEMTVVIDQLEVC
DSLIPSTSSMTHVSDTEHKESETAVETSTPKIKTGSSSLEGQFPNEGIAIDMELQSDPEE
QLSENACISETSFSSESPEGACTSLPSPGGETQSTSEESCTPASLETTFCSEVSSTENTD
KYNQRNSTDENFHASLMSEISPISTSPEISEASLMSNLPLTSEASPVSNLPLTSETSPMS
DLPLTSETSSVSSMLLTSETTFVSSLPLPSETSPISNSSINERMAHQQRKSPSVSEEPLS
PQKDESSATAKPLGENLTSQQKNLSNTPEPIIMSSSSIAPEAFPSEDLHNKTLSQQTCKS
HVDTEKPYPASIPELASTEMIKVKNHSVLQRTEKKVLPSPLELSVFSEGTDNKGNELPSA
KLQDKQYISSVDKAPFSEGSRNKTHKQGSTQSRLETSHTSKSSEPSKSPDGIRNESRDSE
ISKRKTAEQHSFGICKEKRARIEDDQSTRNISSSSPPEKEQPPREEPRVPPLKIQLSKIG
PPFIIKSQPVSKPESRASTSTSVSGGRNTGARTLADIKARAQQARAQREAAAAAAVAAAA
SIVSGAMGSPGEGGKTRTLAHIKEQTKAKLFAKHQARAHLFQTSKETRLPPPLSSKEGPP
NLEVSSTPETKMEGSTGVIIVNPNCRSPSNKSAHLRETTTVLQQSLNPSKLPETATDLSV
HSSDENIPVSHLSEKIVSSTSSENSSVPMLFNKNSVPVSVCSTAISGAIKEHPFVSSVDK
SSVLMSVDSANTTISACNISMLKTIQGTDTPCIAIIPKCIESTPISATTEGSSISSSMDD
KQLLISSSSASNLVSTQYTSVPTPSIGNNLPNLSTSSVLIPPMGINNRFPSEKIAIPGSE
EQATVSMGTTVRAALSCSDSVAVTDSLVAHPTVAMFTGNMLTINSYDSPPKLSAESLDKN
SGPRNRADNSGKPQQPPGGFAPAAINRSIPCKVIVDHSTTLTSSLSLTVSVESSEASLDL
QGRPVRTEASVQPVACPQVSVISRPEPVANEGIDHSSTFIAASAAKQDSKTLPATCTSLR
ELPLVPDKLNEPTAPSHNFAEQARGPAPFKSEADTTCSNQYNPSNRICWNDDGMRSTGQP
LVTHSGSSKQKEYLEQSCPKAIKTEHANYLNVSELHPRNLVTNVALPVKSELHEADKGFR
MDTEDFPGPELPPPAAEGASSVQQTQNMKASTSSPMEEAISLATDALKRVPGAGSSGCRL
SSVEANNPLVTQLLQGNLPLEKVLPQPRLGAKLEINRLPLPLQTTSVGKTAPERNVEIPP
SSPNPDGKGYLAGTLAPLQMRKRENHPKKRVARTVGEHTQVKCEPGKLLVEPDVKGVPCV
ISSGISQLGHSQPFKQEWLNKHSMQNRIVHSPEVKQQKRLLPSCSFQQNLFHVDKNGGFH
TDAGTSHRQQFYQMPVAARGPIPTAALLQASSKTPVGCNAFAFNRHLEQKGLGEVSLSSA
PHQLRLANMLSPNMPMKEGDEVGGTAHTMPNKALVHPPPPPPPPPPPPLALPPPPPPPPP
LPPPLPNAEVPSDQKQPPVTMETTKRLSWPQSTGICSNIKSEPLSFEEGLSSSCELGMKQ
VSYDQNEMKEQLKAFALKSADFSSYLLSEPQKPFTQLAAQKMQVQQQQQLCGNYPTIHFG
STSFKRAASAIEKSIGILGSGSNPATGLSGQNAQMPVQNFADSSNADELELKCSCRLKAM
IVCKGCGAFCHDDCIGPSKLCVACLVVR
NT seq 6747 nt   +upstreamnt  +downstreamnt
atgaaagacaagaggaagaagaaggaccgcacctgggccgaggctgcccgcctggcacta
gaaaaacaccccaactcaccaatgacagcaaagcagatattggaagtcattcagaaagaa
gggttaaaagaaacaagtggaacctctccattagcctgtctgaatgcaatgcttcacact
aacactcgaataggggatggaacattcttcaaaatccctggaaagtcaggcctctatgct
ctcaaaaaagaggagtcgtcatgcccagcagatggcacgttggatttagtctgtgaatct
gaattggatggtacagatatggccgaggcaaatgcccatggagaagaaaatggagtttgt
tcgaagcaggtaactgatgaagcatcttccactcgagattcaagccttactaacacagca
gtgcaaagcaagttagtgtcttccttccagcagcacaccaaaaaggctcttaaacaggct
ttgaggcagcagcagaaaagaagaaatggagtctcaatgatggtaaacaagactgttcct
cgtgttgttttgacaccattaaaggtgtctgatgagcagtcggattcgccttcaggatct
gaatctaaaaatggtgaagcagacagttcagataaagaaatgaaacatgggcaaaaatct
cccactggaaaacaaacaagtcagcacttaaaacgattaaaaaagtctggtttagggcac
ttgaaatggaccaaagctgaggacattgacatagaaaccccaggatctattcttgtcaac
actaacttgagggcattaataaataaacatacgtttgcttccttacctcagcattttcaa
caatacctcctgcttttgctcccagaagtggataggcagatgggaagtgatggaatttta
cgcctcagtacttcagctctaaataatgaattctttgcatatgcagcacaagggtggaaa
cagcgactggcagaaggagagtttaccccagaaatgcagttgcggataaggcaagaaatt
gagaaggaaaagaaaacagaaccttggaaagaaaaattctttgagaggttttatggagaa
aagctgggcatgtcaagagaggaatctgtgaagctcactactggaccaaacaacgctgga
gctcaaagtagttcttcatgtgggacttctggccttccagtttctgcacagacagccttg
gcagaacaacagccaaaaagcatgaaaagcccagcttctccagagcctggtttctgtgct
actctttgccctatggtagaaattccacctaaagatataatggcagaattggagtcagag
gatatcttgatccctgaagaatctgtaattcaggaggaaattgcagaagaggtagagact
agtatctgtgaatgccaggatgaaaatcataagacaatacctgaattttctgaggaggct
gaaagtctaaccaattctcatgaagaaccccaaatagcacctcctgaagataacttggaa
tcctgtgttatgatgaatgatgttttagaaactttgcctcatattgaagttaagatagaa
gggaagtcagaatcaccccaggaagaaatgacagttgttatcgatcagttagaagtctgt
gactctcttattccttccacttcatctatgactcatgtcagtgacacagaacataaggag
tcagaaactgcagtagagaccagtacccccaaaataaaaacagggtcatcttctctagaa
ggccagtttccaaatgaaggaattgctatagatatggagctacagagtgaccctgaagaa
cagctttcagaaaatgcctgcatctctgaaacgtccttttcttctgagagcccagaggga
gcctgtaccagcctgccttctccaggaggggaaacacagtccacatcagaagaatcatgt
actccagcctcccttgagacaacattttgttctgaggtatctagcactgaaaatacagac
aaatacaaccagagaaattccactgatgaaaactttcatgcatctttgatgtcagaaata
tctccaatatccacttcacctgaaatatcagaagcatctcttatgtccaacttaccatta
acatctgaagcatcaccagtatccaacttacctttaacatcagaaacctcaccgatgtct
gacttacctttaacatcagaaacttcttcagtgtcttccatgcttctcacctctgagacc
acttttgtatccagtttgccacttccttcagaaacatctccaatttccaactcttccata
aatgagagaatggcacatcagcaaagaaagtcaccttctgtatctgaagagccactctcc
ccgcagaaagatgagtcttccgccactgccaaacctctgggagagaaccttacctcccag
cagaagaatctgtctaatactcccgaacccatcataatgagttcttcttccattgctcct
gaagcatttccgtctgaagatttgcacaataagaccctgagtcagcaaacctgtaaatca
catgttgacactgagaagccctaccctgcttcaattccagaacttgcttctactgaaatg
ataaaagttaaaaatcatagcgtcctgcaaagaacagaaaaaaaagtgttaccttcacca
ttggaattatctgtcttttctgaagggacagataataagggaaatgagcttccatctgct
aaattacaggacaagcaatatatctcatcagtggataaggctccattttcagaaggctct
agaaataaaacacataagcaagggagtacacagagtcggttagaaacctcacatacttcc
aagtcatcagagccctccaagtcacctgatgggataagaaatgaaagtagagattcagag
atatcaaagagaaaaactgcagagcaacacagctttggaatctgtaaggaaaagagagct
aggatagaagatgatcagtcaacccggaacatatcatctagcagcccacctgagaaagaa
cagcctcccagagaggaaccaagggttccccctctcaagattcagctttccaaaattggg
ccaccttttataatcaagagccaaccagtctccaaacctgagtctcgagcatccactagc
acatctgtcagtggcgggaggaacacaggagccaggaccctcgcagatatcaaggcccgg
gcccaacaagctcgggcccagcgagaggctgctgcagctgctgctgtggctgctgcagcg
agcattgtctctggagccatgggaagtccaggagagggtggaaagacgagaactctggca
cacatcaaagagcagacaaaggctaagctctttgcaaagcatcaagctcgagcccatctc
ttccagacctctaaagagacccggttgcctcctccgctcagctcaaaggaagggcctcca
aacttagaagtctcttctacccctgaaacaaaaatggaaggttcgactggtgtcattatt
gtcaatccaaactgtagatctcctagcaacaagtctgcccacctccgggagaccaccact
gtactacagcagtctcttaacccaagtaaacttccagaaactgccactgacttatctgtg
catagttctgatgaaaacatacctgtgtcacatttatctgagaaaattgtttcatctacc
tcttctgaaaatagcagtgtgcccatgctttttaataaaaattctgtccctgtatctgtt
tgcagcactgctatatcgggagcaattaaagaacatccctttgtgagttctgttgataaa
tcctctgtcctaatgtctgttgacagtgcaaacactacaatttctgcttgtaatataagc
atgttaaaaaccatccagggaactgacactccatgcatagccattataccaaaatgtatt
gaaagcactcccatttcagccactacagagggctccagcatatcaagctccatggatgat
aagcagttactaatatcaagcagcagtgctagtaacttagtctccactcagtacacctct
gtgccaactccctccatcggaaacaatttgccaaacctctccactagctctgtcttgatt
cccccaatgggaattaacaacagatttccttctgagaagatagccatacctgggagtgaa
gaacaggccactgtatccatgggtaccactgtgagagcagccctcagctgcagtgattct
gtagcggtcacagactctctggttgcacacccgaccgtcgcaatgtttactggaaacatg
ctgacaataaactcttatgatagtcctcccaagttaagtgctgaaagcttggacaaaaat
tcagggcctcgaaacagggcagataattctggaaaacctcagcaaccaccagggggcttt
gcaccagcagccataaaccgatcaattccgtgtaaagtcatcgttgaccacagcaccacg
ctgacctccagtttgtctctgactgtctccgttgaaagctcagaagccagcttggacctg
cagggcagaccagtgaggacagaggcatccgtacagcccgtggcgtgtcctcaggtgtct
gtgattagcaggcctgagccagttgccaacgaaggtatagatcacagttccactttcatt
gctgcttcggcagcaaaacaagacagtaaaacattgccggccacctgcacaagtctccga
gaattaccccttgttccagataaattaaatgagccgactgctcccagtcataactttgct
gagcaggcacgtggcccagctcctttcaaaagtgaagcagacacaacctgtagcaatcag
tataacccaagtaaccggatttgctggaatgatgatgggatgaggagcacaggacagcct
ctggttactcactcgggttcaagtaaacaaaaagaatatctagagcaaagctgtccaaag
gctatcaaaactgaacatgccaactacttgaacgtgtcagaacttcatcccaggaatctt
gtaacaaatgttgctcttcctgtgaaatctgaacttcacgaagcagacaagggctttaga
atggacactgaagacttccctggccctgagctgcctcctccggctgcagagggagcctct
agtgtacaacaaacacagaacatgaaagcttccacctcaagtcccatggaagaggctatt
tccttggctaccgatgccctgaagagagtccctggtgcagggagctcaggctgtcgtctg
tcctctgtggaggctaacaatccgctggtgacgcagttactacagggcaacctgcctttg
gaaaaagtgttgccacagcccagattgggagccaagcttgaaatcaacaggcttccattg
cctcttcaaactacctcagtgggtaaaacagcaccagagagaaacgttgaaattccgccc
agctctccaaatccagatggtaagggctacttggcagggactctggcaccactccaaatg
agaaagcgagaaaaccaccccaaaaagagagtagctaggactgtaggagaacacactcaa
gttaaatgtgaaccaggaaaattgttggtggagccagatgttaaaggggtgccttgtgtc
atcagttccggcatcagtcagctaggacacagccagccatttaagcaagaatggctaaac
aagcactccatgcagaacagaattgttcacagccctgaggtcaaacagcaaaagcggctg
ctcccctcgtgtagcttccagcagaacctatttcatgttgacaagaatggcggcttccac
actgacgctggtacctcacacagacagcagttttaccaaatgcctgtggctgccaggggc
cccattcctactgcagctctgttacaggcctcttccaagaccccagtggggtgtaatgca
tttgccttcaacaggcatcttgaacagaagggattgggagaggttagtctttcctcagca
cctcaccagctaaggttagccaacatgttatcccccaatatgcccatgaaagaaggtgat
gaggtgggaggcactgcacacacaatgccaaacaaagcactagtacatccgccgccgcca
ccgcctccccctccccctccacccttggctttgcccccgcctccccccccaccacctccg
ctacctccacctctccctaatgcagaagtcccatctgatcaaaaacaacctccagttacc
atggaaaccactaagagacttagttggccacagtccacgggcatatgtagcaatataaaa
tcggaacctctttcttttgaggaaggtttaagcagcagctgtgaactgggcatgaaacaa
gtttcctatgaccagaatgaaatgaaagaacagttaaaagcattcgcgctaaaaagtgca
gatttctcttcctatttgctttctgagccacaaaagccttttacccaattagctgctcag
aaaatgcaggtgcagcaacaacagcagctctgtggaaattatccaacaatacactttggt
agcacgagtttcaaaagggcagcatctgcaattgaaaagtccattgggattttgggaagt
ggctccaatcctgccacaggcttgtctggtcagaacgctcagatgcccgttcagaacttt
gccgacagcagcaatgcagatgaattggaactgaaatgctcttgccggctgaaagccatg
attgtgtgcaaaggctgtggggccttctgccatgacgactgcataggtccttcaaaactt
tgtgtagcatgcctggttgtacgataa

DBGET integrated database retrieval system