• Gene id: 6597

Gene Summary

• Gene Symbol: SMARCA4   Gene   UCSC   Ensembl
• Aliases: BAF190, BAF190A, BRG1, CSS4, MRD16, RTPS2, SNF2, SNF2-beta, SNF2L4, SNF2LB, SWI2, hSNF2b
• Gene name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
• Alternate names: transcription activator BRG1, ATP-dependent helicase SMARCA4, BRG1-associated factor 190A, BRM/SWI2-related gene 1, SNF2-like 4, brahma protein-like 1, global transcription activator homologous sequence, homeotic gene regulator, mitotic growth and transcription a,
• Gene location: 19p13.2 (10960996: 11062276)     Exons: 40     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by alt
• OMIM: 603254

Protein Summary

• Protein general information: P51532  
  • Name: Transcription activator BRG1 (EC 3.6.4. ) (ATP dependent helicase SMARCA4) (BRG1 associated factor 190A) (BAF190A) (Mitotic growth and transcription activator) (Protein BRG 1) (Protein brahma homolog 1) (SNF2 beta) (SWI/SNF related matrix associated actin
  • Length: 1647  
  • Mass: 184646
  • Tissue specificity: Colocalizes with ZEB1 in E-cadherin-negative cells from established lines, and stroma of normal colon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas (at protein level). {ECO
• Sequence:

  MSTPDPPLGGTPRPGPSPGPGPSPGAMLGPSPGPSPGSAHSMMGPSPGPPSAGHPIPTQGPGGYPQDNMHQMHKP
  MESMHEKGMSDDPRYNQMKGMGMRSGGHAGMGPPPSPMDQHSQGYPSPLGGSEHASSPVPASGPSSGPQMSSGPG
  GAPLDGADPQALGQQNRGPTPFNQNQLHQLRAQIMAYKMLARGQPLPDHLQMAVQGKRPMPGMQQQMPTLPPPSV
  SATGPGPGPGPGPGPGPGPAPPNYSRPHGMGGPNMPPPGPSGVPPGMPGQPPGGPPKPWPEGPMANAAAPTSTPQ
  KLIPPQPTGRPSPAPPAVPPAASPVMPPQTQSPGQPAQPAPMVPLHQKQSRITPIQKPRGLDPVEILQEREYRLQ
  ARIAHRIQELENLPGSLAGDLRTKATIELKALRLLNFQRQLRQEVVVCMRRDTALETALNAKAYKRSKRQSLREA
  RITEKLEKQQKIEQERKRRQKHQEYLNSILQHAKDFKEYHRSVTGKIQKLTKAVATYHANTEREQKKENERIEKE
  RMRRLMAEDEEGYRKLIDQKKDKRLAYLLQQTDEYVANLTELVRQHKAAQVAKEKKKKKKKKKAENAEGQTPAIG
  PDGEPLDETSQMSDLPVKVIHVESGKILTGTDAPKAGQLEAWLEMNPGYEVAPRSDSEESGSEEEEEEEEEEQPQ
  AAQPPTLPVEEKKKIPDPDSDDVSEVDARHIIENAKQDVDDEYGVSQALARGLQSYYAVAHAVTERVDKQSALMV
  NGVLKQYQIKGLEWLVSLYNNNLNGILADEMGLGKTIQTIALITYLMEHKRINGPFLIIVPLSTLSNWAYEFDKW
  APSVVKVSYKGSPAARRAFVPQLRSGKFNVLLTTYEYIIKDKHILAKIRWKYMIVDEGHRMKNHHCKLTQVLNTH
  YVAPRRLLLTGTPLQNKLPELWALLNFLLPTIFKSCSTFEQWFNAPFAMTGEKVDLNEEETILIIRRLHKVLRPF
  LLRRLKKEVEAQLPEKVEYVIKCDMSALQRVLYRHMQAKGVLLTDGSEKDKKGKGGTKTLMNTIMQLRKICNHPY
  MFQHIEESFSEHLGFTGGIVQGLDLYRASGKFELLDRILPKLRATNHKVLLFCQMTSLMTIMEDYFAYRGFKYLR
  LDGTTKAEDRGMLLKTFNEPGSEYFIFLLSTRAGGLGLNLQSADTVIIFDSDWNPHQDLQAQDRAHRIGQQNEVR
  VLRLCTVNSVEEKILAAAKYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEQDESRHCSTGSGSASFAHTA
  PPPAGVNPDLEEPPLKEEDEVPDDETVNQMIARHEEEFDLFMRMDLDRRREEARNPKRKPRLMEEDELPSWIIKD
  DAEVERLTCEEEEEKMFGRGSRHRKEVDYSDSLTEKQWLKAIEEGTLEEIEEEVRQKKSSRKRKRDSDAGSSTPT
  TSTRSRDKDDESKKQKKRGRPPAEKLSPNPPNLTKKMKKIVDAVIKYKDSSSGRQLSEVFIQLPSRKELPEYYEL
  IRKPVDFKKIKERIRNHKYRSLNDLEKDVMLLCQNAQTFNLEGSLIYEDSIVLQSVFTSVRQKIEKEDDSEGEES
  EEEEEGEEEGSESESRSVKVKIKLGRKEKAQDRLKGGRRRPSRGSRAKPVVSDDDSEEEQEEDRSGSGSEED

• Structural information:
  • Protein Domains: (171..20-)
    (/note="QLQ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01001-)
    (460..53-)
    (/note="HSA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00549-)
    (766..93-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU-)
  • Interpro: IPR030100  IPR006576  IPR037259  IPR001487  IPR036427   IPR018359  IPR014978  IPR014001  IPR001650  IPR014012  IPR027417  IPR029295  IPR038718  IPR000330  
  • Prosite: PS00633 PS50014 PS51192 PS51194 PS51204 PS51666
  • PDB: 2GRC 2H60 3UVD 5DKD 5EA1 6BGH 6HR2
  • PDBsum: 2GRC 2H60 3UVD 5DKD 5EA1 6BGH 6HR2
  • DIP: 24249
  • STRING: ENSP00000395654
• Other Databases: GeneCards:  SMARCA4  Malacards:  SMARCA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008094	DNA-dependent ATPase activity	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043044	ATP-dependent chromatin remodeling	IBA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0071564	npBAF complex	ISS	cellular component
GO:0071565	nBAF complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016514	SWI/SNF complex	IEA	cellular component
GO:0016817	hydrolase activity, acting on acid anhydrides	IEA	molecular function
GO:0042393	histone binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0016887	ATPase activity	IEA	molecular function
GO:0043044	ATP-dependent chromatin remodeling	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0004386	helicase activity	TAS	molecular function
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006325	chromatin organization	TAS	biological process
GO:0038111	interleukin-7-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070182	DNA polymerase binding	IPI	molecular function
GO:0030177	positive regulation of Wnt signaling pathway	IMP	biological process
GO:0070577	lysine-acetylated histone binding	IDA	molecular function
GO:0002039	p53 binding	IPI	molecular function
GO:0008094	DNA-dependent ATPase activity	IGI	molecular function
GO:0050681	androgen receptor binding	IPI	molecular function
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0003713	transcription coactivator activity	NAS	molecular function
GO:0003713	transcription coactivator activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030957	Tat protein binding	IPI	molecular function
GO:0006337	nucleosome disassembly	IDA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0071564	npBAF complex	IDA	cellular component
GO:0003407	neural retina development	IEP	biological process
GO:0006357	regulation of transcription by RNA polymerase II	NAS	biological process
GO:0030308	negative regulation of cell growth	IMP	biological process
GO:0043923	positive regulation by host of viral transcription	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0060766	negative regulation of androgen receptor signaling pathway	IMP	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006338	chromatin remodeling	IC	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001188	RNA polymerase I preinitiation complex assembly	IEA	biological process
GO:1902661	positive regulation of glucose mediated signaling pathway	IDA	biological process
GO:0001164	RNA polymerase I core promoter sequence-specific DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0031492	nucleosomal DNA binding	HDA	contributes to
GO:0005615	extracellular space	HDA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	HDA	contributes to
GO:0043044	ATP-dependent chromatin remodeling	HDA	biological process
GO:1901838	positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	biological process
GO:0006338	chromatin remodeling	IMP	biological process
GO:0000790	nuclear chromatin	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0032991	protein-containing complex	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis
hsa05225	Hepatocellular carcinoma

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Coffin-Siris syndrome	KEGG:H01403
Rhabdoid predisposition syndrome	KEGG:H01134
Autosomal dominant mental retardation	KEGG:H00773
Coffin-Siris syndrome	KEGG:H01403
Rhabdoid predisposition syndrome	KEGG:H01134
Prostate cancer	PMID:17075831
lung non-small cell carcinoma	PMID:15287030
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray