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Gene id

8289

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (26696030: 26782109) 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 ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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: 242,045

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	ARID. (1017-1108)
Motifs	LXXLL (295-299) Nuclear localization(1368-1387) LXXLL (1709-1713) LXXLL (1967-1971) LXXLL. (2085-2089)
Interpro:	IPR001606 IPR011989 IPR016024 IPR021906 IPR033388 IPR030094
Prosite:	PS51011
Pfam:	PF01388 PF12031
PDB:	1RYU
PDBsum:	1RYU
DIP:	33016
MINT:	2795087
STRING:	ENSP00000320485;

Other Databases

GeneCards: ARID1A; Malacards: ARID1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000790	nuclear chromatin	IDA	cellular_component
GO:0001843	neural tube closure	IEA	biological_process
GO:0003205	cardiac chamber developme nt	IEA	biological_process
GO:0003408	optic cup formation invol ved in camera-type eye de velopment	IEA	biological_process
GO:0003677	DNA binding	NAS	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003713	transcription coactivator activity	NAS	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:0005634	nucleus	TAS	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0006337	nucleosome disassembly	IDA	biological_process
GO:0006338	chromatin remodeling	IDA	biological_process
GO:0006344	maintenance of chromatin silencing	IEA	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	NAS	biological_process
GO:0016514	SWI/SNF complex	IDA	cellular_component
GO:0016514	SWI/SNF complex	IDA	cellular_component
GO:0016514	SWI/SNF complex	IDA	cellular_component
GO:0016922	ligand-dependent nuclear receptor binding	IPI	molecular_function
GO:0030520	intracellular estrogen re ceptor signaling pathway	IDA	biological_process
GO:0030521	androgen receptor signali ng pathway	IDA	biological_process
GO:0030900	forebrain development	IEA	biological_process
GO:0031491	nucleosome binding	IEA	molecular_function
GO:0042766	nucleosome mobilization	TAS	biological_process
GO:0042921	glucocorticoid receptor s ignaling pathway	IDA	biological_process
GO:0043044	ATP-dependent chromatin r emodeling	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0048096	chromatin-mediated mainte nance of transcription	TAS	biological_process
GO:0055007	cardiac muscle cell diffe rentiation	IEA	biological_process
GO:0060674	placenta blood vessel dev elopment	IEA	biological_process
GO:0071564	npBAF complex	ISS	cellular_component
GO:0071565	nBAF complex	ISS	cellular_component
GO:1901998	toxin transport	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000790	nuclear chromatin	IEA	cellular_component
GO:0000790	nuclear chromatin	IDA	cellular_component
GO:0001843	neural tube closure	IEA	biological_process
GO:0003205	cardiac chamber developme nt	IEA	biological_process
GO:0003408	optic cup formation invol ved in camera-type eye de velopment	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	NAS	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003713	transcription coactivator activity	NAS	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:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0006325	chromatin organization	IEA	biological_process
GO:0006337	nucleosome disassembly	IDA	biological_process
GO:0006338	chromatin remodeling	IEA	biological_process
GO:0006338	chromatin remodeling	IDA	biological_process
GO:0006344	maintenance of chromatin silencing	IEA	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	NAS	biological_process
GO:0007399	nervous system developmen t	IEA	biological_process
GO:0016514	SWI/SNF complex	IEA	cellular_component
GO:0016514	SWI/SNF complex	IDA	cellular_component
GO:0016514	SWI/SNF complex	IDA	cellular_component
GO:0016514	SWI/SNF complex	IDA	cellular_component
GO:0016514	SWI/SNF complex	IDA	cellular_component
GO:0016922	ligand-dependent nuclear receptor binding	IPI	molecular_function
GO:0030520	intracellular estrogen re ceptor signaling pathway	IDA	biological_process
GO:0030521	androgen receptor signali ng pathway	IDA	biological_process
GO:0030900	forebrain development	IEA	biological_process
GO:0031491	nucleosome binding	IEA	molecular_function
GO:0042766	nucleosome mobilization	TAS	biological_process
GO:0042921	glucocorticoid receptor s ignaling pathway	IDA	biological_process
GO:0043044	ATP-dependent chromatin r emodeling	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0048096	chromatin-mediated mainte nance of transcription	TAS	biological_process
GO:0055007	cardiac muscle cell diffe rentiation	IEA	biological_process
GO:0060674	placenta blood vessel dev elopment	IEA	biological_process
GO:0071564	npBAF complex	IEA	cellular_component
GO:0071564	npBAF complex	ISS	cellular_component
GO:0071565	nBAF complex	IEA	cellular_component
GO:0071565	nBAF complex	ISS	cellular_component
GO:0090544	BAF-type complex	IEA	cellular_component
GO:0090544	BAF-type complex	IEA	cellular_component
GO:1901998	toxin transport	IEA	biological_process
GO:0000790	nuclear chromatin	IDA	cellular_component
GO:0003677	DNA binding	NAS	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003713	transcription coactivator activity	NAS	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:0005634	nucleus	TAS	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0006337	nucleosome disassembly	IDA	biological_process
GO:0006338	chromatin remodeling	IDA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	NAS	biological_process
GO:0016514	SWI/SNF complex	IDA	cellular_component
GO:0016514	SWI/SNF complex	IDA	cellular_component
GO:0016514	SWI/SNF complex	IDA	cellular_component
GO:0016514	SWI/SNF complex	IDA	cellular_component
GO:0016922	ligand-dependent nuclear receptor binding	IPI	molecular_function
GO:0030520	intracellular estrogen re ceptor signaling pathway	IDA	biological_process
GO:0030521	androgen receptor signali ng pathway	IDA	biological_process
GO:0042766	nucleosome mobilization	TAS	biological_process
GO:0042921	glucocorticoid receptor s ignaling pathway	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0048096	chromatin-mediated mainte nance of transcription	TAS	biological_process
GO:0071564	npBAF complex	ISS	cellular_component
GO:0071565	nBAF complex	ISS	cellular_component

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG: H00773
Coffin-Siris syndrome	OMIM: 603024, KEGG: H01403
Endometriosis	PMID: 25912412
Endometriosis	INFBASE24018808

PubMed references

PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
25912412	Endometrio sis	179 (59 endomet rioid cancers, 36 clear cell c ases, 18 contig uous endometrio sis cases, 66 b enign endometri otic ovarian cy sts)		BAF250a AKT ?H2AX BIM BAX ATM CHK2 Bcl2	Show abstract
24018808	Endometrio sis	67 ovarian endo metrioid adenoc arcinoma(35 ass ociated with en dometriosis, 32 without endome triosis)	Female infertility	?-catenin cyclin D1 BAF250a PTEN p53 WT1	Show abstract
25692284	Endometrio sis				Show abstract