• Gene id: 8289

Gene Summary

• Gene Symbol: ARID1A   Gene   UCSC   Ensembl
• Aliases: B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1
• Gene name: AT-rich interaction domain 1A
• Alternate names: AT-rich interactive domain-containing protein 1A, ARID domain-containing protein 1A, AT rich interactive domain 1A (SWI-like), BRG1-associated factor 250a, OSA1 nuclear protein, SWI-like protein, SWI/SNF complex protein p270, SWI/SNF-related, matrix-associated, ,
• Gene location: 1p36.11 (26696014: 26782103)     Exons: 20     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large
• OMIM: 603024

Protein Summary

• Protein general information: O14497  
  • Name: AT rich interactive domain containing protein 1A (ARID domain containing protein 1A) (B120) (BRG1 associated factor 250) (BAF250) (BRG1 associated factor 250a) (BAF250A) (Osa homolog 1) (hOSA1) (SWI like protein) (SWI/SNF complex protein p270) (SWI/SNF re
  • Length: 2285  
  • Mass: 242045
  • Tissue specificity: Highly expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, and PBL, and at a much lower level in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas. {ECO
• Sequence:

  MAAQVAPAAASSLGNPPPPPPSELKKAEQQQREEAGGEAAAAAAAERGEMKAAAGQESEGPAVGPPQPLGKELQD
  GAESNGGGGGGGAGSGGGPGAEPDLKNSNGNAGPRPALNNNLTEPPGGGGGGSSDGVGAPPHSAAAALPPPAYGF
  GQPYGRSPSAVAAAAAAVFHQQHGGQQSPGLAALQSGGGGGLEPYAGPQQNSHDHGFPNHQYNSYYPNRSAYPPP
  APAYALSSPRGGTPGSGAAAAAGSKPPPSSSASASSSSSSFAQQRFGAMGGGGPSAAGGGTPQPTATPTLNQLLT
  SPSSARGYQGYPGGDYSGGPQDGGAGKGPADMASQCWGAAAAAAAAAAASGGAQQRSHHAPMSPGSSGGGGQPLA
  RTPQPSSPMDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQPYGSQTPQRYPMTMQGRAQSAMGGLSYTQQ
  IPPYGQQGPSGYGQQGQTPYYNQQSPHPQQQQPPYSQQPPSQTPHAQPSYQQQPQSQPPQLQSSQPPYSQQPSQP
  PHQQSPAPYPSQQSTTQQHPQSQPPYSQPQAQSPYQQQQPQQPAPSTLSQQAAYPQPQSQQSQQTAYSQQRFPPP
  QELSQDSFGSQASSAPSMTSSKGGQEDMNLSLQSRPSSLPDLSGSIDDLPMGTEGALSPGVSTSGISSSQGEQSN
  PAQSPFSPHTSPHLPGIRGPSPSPVGSPASVAQSRSGPLSPAAVPGNQMPPRPPSGQSDSIMHPSMNQSSIAQDR
  GYMQRNPQMPQYSSPQPGSALSPRQPSGGQIHTGMGSYQQNSMGSYGPQGGQYGPQGGYPRQPNYNALPNANYPS
  AGMAGGINPMGAGGQMHGQPGIPPYGTLPPGRMSHASMGNRPYGPNMANMPPQVGSGMCPPPGGMNRKTQETAVA
  MHVAANSIQNRPPGYPNMNQGGMMGTGPPYGQGINSMAGMINPQGPPYSMGGTMANNSAGMAASPEMMGLGDVKL
  TPATKMNNKADGTPKTESKSKKSSSSTTTNEKITKLYELGGEPERKMWVDRYLAFTEEKAMGMTNLPAVGRKPLD
  LYRLYVSVKEIGGLTQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQCLYAFECKIERGEDPPPDIFAAADSKK
  SQPKIQPPSPAGSGSMQGPQTPQSTSSSMAEGGDLKPPTPASTPHSQIPPLPGMSRSNSVGIQDAFNDGSDSTFQ
  KRNSMTPNPGYQPSMNTSDMMGRMSYEPNKDPYGSMRKAPGSDPFMSSGQGPNGGMGDPYSRAAGPGLGNVAMGP
  RQHYPYGGPYDRVRTEPGIGPEGNMSTGAPQPNLMPSNPDSGMYSPSRYPPQQQQQQQQRHDSYGNQFSTQGTPS
  GSPFPSQQTTMYQQQQQNYKRPMDGTYGPPAKRHEGEMYSVPYSTGQGQPQQQQLPPAQPQPASQQQAAQPSPQQ
  DVYNQYGNAYPATATAATERRPAGGPQNQFPFQFGRDRVSAPPGTNAQQNMPPQMMGGPIQASAEVAQQGTMWQG
  RNDMTYNYANRQSTGSAPQGPAYHGVNRTDEMLHTDQRANHEGSWPSHGTRQPPYGPSAPVPPMTRPPPSNYQPP
  PSMQNHIPQVSSPAPLPRPMENRTSPSKSPFLHSGMKMQKAGPPVPASHIAPAPVQPPMIRRDITFPPGSVEATQ
  PVLKQRRRLTMKDIGTPEAWRVMMSLKSGLLAESTWALDTINILLYDDNSIMTFNLSQLPGLLELLVEYFRRCLI
  EIFGILKEYEVGDPGQRTLLDPGRFSKVSSPAPMEGGEEEEELLGPKLEEEEEEEVVENDEEIAFSGKDKPASEN
  SEEKLISKFDKLPVKIVQKNDPFVVDCSDKLGRVQEFDSGLLHWRIGGGDTTEHIQTHFESKTELLPSRPHAPCP
  PAPRKHVTTAEGTPGTTDQEGPPPDGPPEKRITATMDDMLSTRSSTLTEDGAKSSEAIKESSKFPFGISPAQSHR
  NIKILEDEPHSKDETPLCTLLDWQDSLAKRCVCVSNTIRSLSFVPGNDFEMSKHPGLLLILGKLILLHHKHPERK
  QAPLTYEKEEEQDQGVSCNKVEWWWDCLEMLRENTLVTLANISGQLDLSPYPESICLPVLDGLLHWAVCPSAEAQ
  DPFSTLGPNAVLSPQRLVLETLSKLSIQDNNVDLILATPPFSRLEKLYSTMVRFLSDRKNPVCREMAVVLLANLA
  QGDSLAARAIAVQKGSIGNLLGFLEDSLAATQFQQSQASLLHMQNPPFEPTSVDMMRRAARALLALAKVDENHSE
  FTLYESRLLDISVSPLMNSLVSQVICDVLFLIGQS

• Structural information:
  • Protein Domains: (1017..110-)
    (/note="ARID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00355"-)
  • Interpro: IPR001606  IPR036431  IPR011989  IPR016024  IPR021906   IPR033388  IPR030094  
  • Prosite: PS51011
  • PDB: 1RYU
  • PDBsum: 1RYU
  • DIP: 33016
  • STRING: ENSP00000320485
• Other Databases: GeneCards:  ARID1A  Malacards:  ARID1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0016514	SWI/SNF complex	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005654	nucleoplasm	IBA	cellular component
GO:0071565	nBAF complex	IBA	cellular component
GO:0043044	ATP-dependent chromatin remodeling	IBA	biological process
GO:0031491	nucleosome binding	IBA	contributes to
GO:0071564	npBAF complex	ISS	cellular component
GO:0071565	nBAF complex	ISS	cellular component
GO:0016514	SWI/SNF complex	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006338	chromatin remodeling	IEA	biological process
GO:0035060	brahma complex	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0016514	SWI/SNF complex	IDA	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: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:0003408	optic cup formation involved in camera-type eye development	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0007566	embryo implantation	IEA	biological process
GO:0016514	SWI/SNF complex	IEA	cellular component
GO:0060674	placenta blood vessel development	IEA	biological process
GO:0071564	npBAF complex	IEA	cellular component
GO:1901998	toxin transport	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0001704	formation of primary germ layer	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0003205	cardiac chamber development	IEA	biological process
GO:0006338	chromatin remodeling	IEA	biological process
GO:0007369	gastrulation	IEA	biological process
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0031491	nucleosome binding	IEA	molecular function
GO:0043044	ATP-dependent chromatin remodeling	IEA	biological process
GO:0055007	cardiac muscle cell differentiation	IEA	biological process
GO:0071565	nBAF complex	IEA	cellular component
GO:0003713	transcription coactivator activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016922	nuclear receptor binding	IPI	molecular function
GO:0016922	nuclear receptor binding	IPI	molecular function
GO:0006337	nucleosome disassembly	IDA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0006338	chromatin remodeling	IDA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	NAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0042921	glucocorticoid receptor signaling pathway	IDA	biological process
GO:0030520	intracellular estrogen receptor signaling pathway	IDA	biological process
GO:0030521	androgen receptor signaling pathway	IDA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0003677	DNA binding	NAS	molecular function
GO:0048096	chromatin-mediated maintenance of transcription	TAS	biological process
GO:0042766	nucleosome mobilization	TAS	biological process

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
Hepatocellular carcinoma	KEGG:H00048
Autosomal dominant mental retardation	KEGG:H00773
Coffin-Siris syndrome	KEGG:H01403
Hepatocellular carcinoma	KEGG:H00048
intrahepatic cholangiocarcinoma	PMID:30849962
neuroblastoma	PMID:23202128
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq