Gene Gene information from NCBI Gene database.
Entrez ID 8289
Gene name AT-rich interaction domain 1A
Gene symbol ARID1A
Synonyms (NCBI Gene)
B120BAF250BAF250aBM029C1orf4CSS2ELDMRD14OSA1P270SMARCF1hELDhOSA1
Chromosome 1
Chromosome location 1p36.11
Summary 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
SNPs SNP information provided by dbSNP.
35
SNP ID Visualize variation Clinical significance Consequence
rs375761808 A>G,T Likely-pathogenic Coding sequence variant, missense variant
rs387906845 C>T Pathogenic Coding sequence variant, stop gained
rs387906846 C>G,T Pathogenic Coding sequence variant, missense variant, stop gained
rs797045262 AGCAGCCTGGGCAACCCGCCGCCGCC>- Pathogenic Coding sequence variant, frameshift variant
rs797045263 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
798
miRTarBase ID miRNA Experiments Reference
MIRT001385 hsa-miR-1-3p pSILAC 18668040
MIRT004027 hsa-miR-101-3p Western blot 19008416
MIRT004027 hsa-miR-101-3p Western blot 19008416
MIRT004027 hsa-miR-101-3p Western blot 19008416
MIRT004027 hsa-miR-101-3p Western blot 19008416
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 17363140
GO:0000785 Component Chromatin NAS 12192000
GO:0003677 Function DNA binding IDA 15640446, 23129809
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding NAS 10757798
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603024 11110 ENSG00000117713
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14497
Protein 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
Protein function Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromati
PDB 1RYU , 6LTH , 6LTJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01388 ARID 1019 1104 ARID/BRIGHT DNA binding domain Domain
PF12031 BAF250_C 1976 2231 SWI/SNF-like complex subunit BAF250/Osa Family
Tissue specificity 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:0000269|PubMed:11073988, ECO:00
Sequence
MAAQVAPAAASSLGNPPPPPPSELKKAEQQQREEAGGEAAAAAAAERGEMKAAAGQESEG
PAVGPPQPLGKELQDGAESNGGGGGGGAGSGGGPGAEPDLKNSNGNAGPRPALNNNLTEP
PGGGGGGSSDGVGAPPHSAAAALPPPAYGFGQPYGRSPSAVAAAAAAVFHQQHGGQQSPG
LAALQSGGGGGLEPYAGPQQNSHDHGFPNHQYNSYYPNRSAYPPPAPAYALSSPRGGTPG
SGAAAAAGSKPPPSSSASASSSSSSFAQQRFGAMGGGGPSAAGGGTPQPTATPTLNQLLT
SPSSARGYQGYPGGDYSGGPQDGGAGKGPADMASQCWGAAAAAAAAAAASGGAQQRSHHA
PMSPGSSGGGGQPLARTPQPSSPMDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQ
PYGSQTPQRYPMTMQGRAQSAMGGLSYTQQIPPYGQQGPSGYGQQGQTPYYNQQSPHPQQ
QQPPYSQQPPSQTPHAQPSYQQQPQSQPPQLQSSQPPYSQQPSQPPHQQSPAPYPSQQST
TQQHPQSQPPYSQPQAQSPYQQQQPQQPAPSTLSQQAAYPQPQSQQSQQTAYSQQRFPPP
QELSQDSFGSQASSAPSMTSSKGGQEDMNLSLQSRPSSLPDLSGSIDDLPMGTEGALSPG
VSTSGISSSQGEQSNPAQSPFSPHTSPHLPGIRGPSPSPVGSPASVAQSRSGPLSPAAVP
GNQMPPRPPSGQSDSIMHPSMNQSSIAQDRGYMQRNPQMPQYSSPQPGSALSPRQPSGGQ
IHTGMGSYQQNSMGSYGPQGGQYGPQGGYPRQPNYNALPNANYPSAGMAGGINPMGAGGQ
MHGQPGIPPYGTLPPGRMSHASMGNRPYGPNMANMPPQVGSGMCPPPGGMNRKTQETAVA
MHVAANSIQNRPPGYPNMNQGGMMGTGPPYGQGINSMAGMINPQGPPYSMGGTMANNSAG
MAASPEMMGLGDVKLTPATKMNNKADGTPKTESKSKKSSSSTTTNEKITKLYELGGEPER
KMWVDRYLAFTEEKAMGMTNLPAVGRKPLDLYRLYVSVKEIGGLTQVNKNKKWRELATNL
NVGTSSSAASSLKKQYIQCLYAFE
CKIERGEDPPPDIFAAADSKKSQPKIQPPSPAGSGS
MQGPQTPQSTSSSMAEGGDLKPPTPASTPHSQIPPLPGMSRSNSVGIQDAFNDGSDSTFQ
KRNSMTPNPGYQPSMNTSDMMGRMSYEPNKDPYGSMRKAPGSDPFMSSGQGPNGGMGDPY
SRAAGPGLGNVAMGPRQHYPYGGPYDRVRTEPGIGPEGNMSTGAPQPNLMPSNPDSGMYS
PSRYPPQQQQQQQQRHDSYGNQFSTQGTPSGSPFPSQQTTMYQQQQQNYKRPMDGTYGPP
AKRHEGEMYSVPYSTGQGQPQQQQLPPAQPQPASQQQAAQPSPQQDVYNQYGNAYPATAT
AATERRPAGGPQNQFPFQFGRDRVSAPPGTNAQQNMPPQMMGGPIQASAEVAQQGTMWQG
RNDMTYNYANRQSTGSAPQGPAYHGVNRTDEMLHTDQRANHEGSWPSHGTRQPPYGPSAP
VPPMTRPPPSNYQPPPSMQNHIPQVSSPAPLPRPMENRTSPSKSPFLHSGMKMQKAGPPV
PASHIAPAPVQPPMIRRDITFPPGSVEATQPVLKQRRRLTMKDIGTPEAWRVMMSLKSGL
LAESTWALDTINILLYDDNSIMTFNLSQLPGLLELLVEYFRRCLIEIFGILKEYEVGDPG
QRTLLDPGRFSKVSSPAPMEGGEEEEELLGPKLEEEEEEEVVENDEEIAFSGKDKPASEN
SEEKLISKFDKLPVKIVQKNDPFVVDCSDKLGRVQEFDSGLLHWRIGGGDTTEHIQTHFE
SKTELLPSRPHAPCPPAPRKHVTTAEGTPGTTDQEGPPPDGPPEKRITATMDDMLSTRSS
TLTEDGAKSSEAIKESSKFPFGISPAQSHRNIKILEDEPHSKDETPLCTLLDWQDSLAKR
CVCVSNTIRSLSFVPGNDFEMSKHPGLLLILGKLILLHHKHPERKQAPLTYEKEEEQDQG
VSCNKVEWWWDCLEMLRENTLVTLANISGQLDLSPYPESICLPVLDGLLHWAVCPSAEAQ
DPFSTLGPNAVLSPQRLVLETLSKLSIQDNNVDLILATPPFSRLEKLYSTMVRFLSDRKN
PVCREMAVVLLANLAQGDSLAARAIAVQKGSIGNLLGFLEDSLAATQFQQSQASLLHMQN
PPFEPTSVDMM
RRAARALLALAKVDENHSEFTLYESRLLDISVSPLMNSLVSQVICDVLF
LIGQS
Sequence length 2285
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ATP-dependent chromatin remodeling
Thermogenesis
Hepatocellular carcinoma
  RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
444
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ARID1A-related BAFopathy Pathogenic; Likely pathogenic rs2124740536, rs2124789902, rs2124081540, rs2124087389, rs1557591264, rs1557620758, rs1570609440 RCV001533055
RCV001533057
RCV001533076
RCV001533077
RCV001533056
RCV001533079
RCV001533078
ARID1A-related disorder Likely pathogenic; Pathogenic rs2124742621, rs2521981696, rs1026678745, rs2080284671, rs2522041276 RCV003401706
RCV003400429
RCV003412496
RCV003408736
RCV003899352
Coffin-Siris syndrome Likely pathogenic; Pathogenic rs1553153771, rs2081052495, rs2081053573 RCV000509492
RCV001251896
RCV001251895
Coffin-Siris syndrome 1 Pathogenic; Likely pathogenic rs797045262, rs387906846, rs1553152590 RCV003314556
RCV000856779
RCV001788274
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adenocarcinoma of the large intestine other rs1553153748 RCV006254083
AKT1 Inhibitor response drug response rs1553153231 RCV000626450
Astrocytoma Conflicting classifications of pathogenicity rs748085214 RCV000590829
Autism spectrum disorder Conflicting classifications of pathogenicity rs1327610437 RCV003127604
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3C syndrome Associate 29135119
Adenocarcinoma Inhibit 22274316
Adenocarcinoma Associate 23525077, 28440661, 29189288, 31906887, 32572156, 34367146, 34725190, 34725203, 40101550
Adenocarcinoma Clear Cell Associate 37697729
Adenocarcinoma Mucinous Associate 26904685, 28440661, 33451982
Adenocarcinoma of Lung Associate 22975805, 22980975, 33608032, 36229854, 36869329, 37327699
Adenofibroma Associate 22157930
Adenomyosis Associate 36708516
Aneuploidy Associate 25963524
Anodontia Associate 31906887, 34042312, 37906351, 40281612