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
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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (3)   
   KEGG PATHWAY (3)   
Network (2)   
   KEGG NETWORK (2)   
Disease (7)   
   KEGG DISEASE (4)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (25)   
   KEGG ORTHOLOGY (1)   
   RefGene (19)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (41)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (38)   
DNA sequence (87)   
   RefSeq(nuc) (39)   
   GenBank (24)   
   EMBL (24)   
3D Structure (19)   
   PDB (19)   
Protein domain (11)   
   Pfam (11)   
All databases (199)   

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