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Protein

AT-rich interactive domain-containing protein 1A

Gene

ARID1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).By similarity

GO - Molecular functioni

  • DNA binding Source: UniProtKB
  • ligand-dependent nuclear receptor binding Source: BHF-UCL
  • nucleosome binding Source: Ensembl
  • transcription coactivator activity Source: BHF-UCL

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator

Keywords - Biological processi

Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000117713-MONOMER.
ReactomeiR-HSA-3214858. RMTs methylate histone arginines.
SIGNORiO14497.

Names & Taxonomyi

Protein namesi
Recommended name:
AT-rich interactive domain-containing protein 1A
Short name:
ARID domain-containing protein 1A
Alternative name(s):
B120
BRG1-associated factor 250
Short name:
BAF250
BRG1-associated factor 250a
Short name:
BAF250A
Osa homolog 1
Short name:
hOSA1
SWI-like protein
SWI/SNF complex protein p270
SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1
hELD
Gene namesi
Name:ARID1A
Synonyms:BAF250, BAF250A, C1orf4, OSA1, SMARCF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:11110. ARID1A.

Subcellular locationi

GO - Cellular componenti

  • nBAF complex Source: UniProtKB
  • npBAF complex Source: UniProtKB
  • nuclear chromatin Source: BHF-UCL
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • SWI/SNF complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Coffin-Siris syndrome 2 (CSS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.
See also OMIM:614607

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1073W → A: Partial loss of DNA-binding activity. Complete loss of activity; when associated with A-1096. 1 Publication1
Mutagenesisi1096Y → A: Partial loss of DNA-binding activity. Complete loss of activity; when associated with A-1073. 1 Publication1
Mutagenesisi1370 – 1371KR → TT: Displays nucleocytoplasmic localization and increased stability; when associated with T-1383. 1 Publication2
Mutagenesisi1383R → T: Displays nucleocytoplasmic localization and increased stability; when associated with 1370-T-T-1371. 1 Publication1
Mutagenesisi1656 – 1658RRR → TTT: No effect on subcellular localization. 1 Publication3

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi8289.
MalaCardsiARID1A.
MIMi614607. phenotype.
OpenTargetsiENSG00000117713.
Orphaneti1465. Coffin-Siris syndrome.
PharmGKBiPA35960.

Polymorphism and mutation databases

BioMutaiARID1A.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002005752 – 2285AT-rich interactive domain-containing protein 1AAdd BLAST2284

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei58PhosphoserineCombined sources1
Modified residuei79PhosphoserineCombined sources1
Modified residuei233PhosphoserineCombined sources1
Modified residuei286PhosphothreonineCombined sources1
Modified residuei301PhosphoserineCombined sources1
Modified residuei363PhosphoserineCombined sources1
Modified residuei382PhosphoserineCombined sources1
Modified residuei429Asymmetric dimethylarginineCombined sources1
Modified residuei604PhosphoserineCombined sources1
Modified residuei696PhosphoserineCombined sources1
Modified residuei698PhosphoserineCombined sources1
Modified residuei702PhosphoserineCombined sources1
Modified residuei730PhosphoserineBy similarity1
Modified residuei764PhosphoserineCombined sources1
Modified residuei772PhosphoserineCombined sources1
Modified residuei1184PhosphoserineCombined sources1
Modified residuei1235PhosphoserineCombined sources1
Modified residuei1276Omega-N-methylarginineCombined sources1
Modified residuei1604PhosphoserineCombined sources1
Modified residuei1612N6-acetyllysineCombined sources1
Modified residuei1751PhosphoserineCombined sources1
Modified residuei1754PhosphoserineCombined sources1
Modified residuei1888PhosphothreonineCombined sources1
Modified residuei1905N6-acetyllysineCombined sources1
Modified residuei1929PhosphoserineCombined sources1
Modified residuei1944PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

EPDiO14497.
MaxQBiO14497.
PaxDbiO14497.
PeptideAtlasiO14497.
PRIDEiO14497.

PTM databases

iPTMnetiO14497.
PhosphoSitePlusiO14497.

Expressioni

Tissue specificityi

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.3 Publications

Gene expression databases

BgeeiENSG00000117713.
ExpressionAtlasiO14497. baseline and differential.
GenevisibleiO14497. HS.

Organism-specific databases

HPAiCAB016334.
HPA005456.

Interactioni

Subunit structurei

Component of SWI/SNF chromatin remodeling complexes, in some of which it can be mutually exclusive with ARID1B/BAF250B. Component of the BAF (SWI/SNF-A) complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Component of the SWI/SNF-B (PBAF) complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PB1/BAF180, ARID2/BAF200, ARID1A/BAF250A or ARID1B/BAF250B and actin. Component of the SWI/SNF Brm complex, at least composed of SMARCA2/BRM/BAF190B, SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, BAF60 (one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C), SMARCC1/BAF155, SMARCC2/BAF170, ARID1A/BAF250A, SIN3A, HDAC1, HDAC2, and RBAP4. Component of the SWI/SNF complex Brg1(I), at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, BAF60 (one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C), SMARCC1/BAF155, SMARCC2/BAF170, ARID1A/BAF250A, SIN3A, and probably HDAC2 and RBAP4. Component of the SWI/SNF Brg1(II), at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, ARID1A/BAF250A and probably HDAC2 and RBAP4. Component of a SWI/SNF-like EPAFa complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCC1/BAF155, SMARCC2/BAF170, BAF250A and MLLT1/ENL. Component of a SWI/SNF-like complex containing ARID1A/BAF250A and ARID1B/BAF250B. Interacts through its C-terminus with SMARCA2/BRM/BAF190B and SMARCA4/BRG1/BAF190A. Interacts with SMARCC1/BAF155. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
HIC1Q145262EBI-637887,EBI-2507362
SMARCA2P515313EBI-637887,EBI-679562
SMARCA4P5153222EBI-637887,EBI-302489

GO - Molecular functioni

  • ligand-dependent nuclear receptor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi113894. 59 interactors.
DIPiDIP-33016N.
IntActiO14497. 16 interactors.
MINTiMINT-2795087.
STRINGi9606.ENSP00000320485.

Structurei

Secondary structure

12285
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi1010 – 1012Combined sources3
Beta strandi1014 – 1016Combined sources3
Helixi1018 – 1033Combined sources16
Beta strandi1045 – 1048Combined sources4
Helixi1051 – 1061Combined sources11
Helixi1066 – 1068Combined sources3
Helixi1072 – 1079Combined sources8
Helixi1087 – 1099Combined sources13
Turni1100 – 1107Combined sources8
Turni1109 – 1111Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1RYUNMR-A1000-1119[»]
ProteinModelPortaliO14497.
SMRiO14497.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO14497.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1017 – 1108ARIDPROSITE-ProRule annotationAdd BLAST92

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi295 – 299LXXLL5
Motifi1368 – 1387Nuclear localization signal1 PublicationAdd BLAST20
Motifi1709 – 1713LXXLL5
Motifi1967 – 1971LXXLL5
Motifi2085 – 2089LXXLL5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi479 – 482Poly-Gln4
Compositional biasi561 – 567Poly-Gln7
Compositional biasi998 – 1001Poly-Ser4
Compositional biasi1327 – 1404Gln-richAdd BLAST78

Sequence similaritiesi

Contains 1 ARID domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2510. Eukaryota.
ENOG410Y034. LUCA.
GeneTreeiENSGT00550000074575.
HOVERGENiHBG058196.
InParanoidiO14497.
KOiK11653.
OMAiMDDMLSS.
OrthoDBiEOG091G00GP.
PhylomeDBiO14497.
TreeFamiTF320364.

Family and domain databases

Gene3Di1.10.150.60. 1 hit.
1.25.10.10. 1 hit.
InterProiIPR001606. ARID_dom.
IPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR021906. BAF250/Osa.
IPR033388. BAF250_C.
IPR030094. BAF250a.
[Graphical view]
PANTHERiPTHR12656. PTHR12656. 2 hits.
PTHR12656:SF12. PTHR12656:SF12. 2 hits.
PfamiPF01388. ARID. 1 hit.
PF12031. BAF250_C. 1 hit.
[Graphical view]
SMARTiSM00501. BRIGHT. 1 hit.
[Graphical view]
SUPFAMiSSF46774. SSF46774. 1 hit.
SSF48371. SSF48371. 1 hit.
PROSITEiPS51011. ARID. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O14497-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAQVAPAAA SSLGNPPPPP PSELKKAEQQ QREEAGGEAA AAAAAERGEM
60 70 80 90 100
KAAAGQESEG PAVGPPQPLG KELQDGAESN GGGGGGGAGS GGGPGAEPDL
110 120 130 140 150
KNSNGNAGPR PALNNNLTEP PGGGGGGSSD GVGAPPHSAA AALPPPAYGF
160 170 180 190 200
GQPYGRSPSA VAAAAAAVFH QQHGGQQSPG LAALQSGGGG GLEPYAGPQQ
210 220 230 240 250
NSHDHGFPNH QYNSYYPNRS AYPPPAPAYA LSSPRGGTPG SGAAAAAGSK
260 270 280 290 300
PPPSSSASAS SSSSSFAQQR FGAMGGGGPS AAGGGTPQPT ATPTLNQLLT
310 320 330 340 350
SPSSARGYQG YPGGDYSGGP QDGGAGKGPA DMASQCWGAA AAAAAAAAAS
360 370 380 390 400
GGAQQRSHHA PMSPGSSGGG GQPLARTPQP SSPMDQMGKM RPQPYGGTNP
410 420 430 440 450
YSQQQGPPSG PQQGHGYPGQ PYGSQTPQRY PMTMQGRAQS AMGGLSYTQQ
460 470 480 490 500
IPPYGQQGPS GYGQQGQTPY YNQQSPHPQQ QQPPYSQQPP SQTPHAQPSY
510 520 530 540 550
QQQPQSQPPQ LQSSQPPYSQ QPSQPPHQQS PAPYPSQQST TQQHPQSQPP
560 570 580 590 600
YSQPQAQSPY QQQQPQQPAP STLSQQAAYP QPQSQQSQQT AYSQQRFPPP
610 620 630 640 650
QELSQDSFGS QASSAPSMTS SKGGQEDMNL SLQSRPSSLP DLSGSIDDLP
660 670 680 690 700
MGTEGALSPG VSTSGISSSQ GEQSNPAQSP FSPHTSPHLP GIRGPSPSPV
710 720 730 740 750
GSPASVAQSR SGPLSPAAVP GNQMPPRPPS GQSDSIMHPS MNQSSIAQDR
760 770 780 790 800
GYMQRNPQMP QYSSPQPGSA LSPRQPSGGQ IHTGMGSYQQ NSMGSYGPQG
810 820 830 840 850
GQYGPQGGYP RQPNYNALPN ANYPSAGMAG GINPMGAGGQ MHGQPGIPPY
860 870 880 890 900
GTLPPGRMSH ASMGNRPYGP NMANMPPQVG SGMCPPPGGM NRKTQETAVA
910 920 930 940 950
MHVAANSIQN RPPGYPNMNQ GGMMGTGPPY GQGINSMAGM INPQGPPYSM
960 970 980 990 1000
GGTMANNSAG MAASPEMMGL GDVKLTPATK MNNKADGTPK TESKSKKSSS
1010 1020 1030 1040 1050
STTTNEKITK LYELGGEPER KMWVDRYLAF TEEKAMGMTN LPAVGRKPLD
1060 1070 1080 1090 1100
LYRLYVSVKE IGGLTQVNKN KKWRELATNL NVGTSSSAAS SLKKQYIQCL
1110 1120 1130 1140 1150
YAFECKIERG EDPPPDIFAA ADSKKSQPKI QPPSPAGSGS MQGPQTPQST
1160 1170 1180 1190 1200
SSSMAEGGDL KPPTPASTPH SQIPPLPGMS RSNSVGIQDA FNDGSDSTFQ
1210 1220 1230 1240 1250
KRNSMTPNPG YQPSMNTSDM MGRMSYEPNK DPYGSMRKAP GSDPFMSSGQ
1260 1270 1280 1290 1300
GPNGGMGDPY SRAAGPGLGN VAMGPRQHYP YGGPYDRVRT EPGIGPEGNM
1310 1320 1330 1340 1350
STGAPQPNLM PSNPDSGMYS PSRYPPQQQQ QQQQRHDSYG NQFSTQGTPS
1360 1370 1380 1390 1400
GSPFPSQQTT MYQQQQQNYK RPMDGTYGPP AKRHEGEMYS VPYSTGQGQP
1410 1420 1430 1440 1450
QQQQLPPAQP QPASQQQAAQ PSPQQDVYNQ YGNAYPATAT AATERRPAGG
1460 1470 1480 1490 1500
PQNQFPFQFG RDRVSAPPGT NAQQNMPPQM MGGPIQASAE VAQQGTMWQG
1510 1520 1530 1540 1550
RNDMTYNYAN RQSTGSAPQG PAYHGVNRTD EMLHTDQRAN HEGSWPSHGT
1560 1570 1580 1590 1600
RQPPYGPSAP VPPMTRPPPS NYQPPPSMQN HIPQVSSPAP LPRPMENRTS
1610 1620 1630 1640 1650
PSKSPFLHSG MKMQKAGPPV PASHIAPAPV QPPMIRRDIT FPPGSVEATQ
1660 1670 1680 1690 1700
PVLKQRRRLT MKDIGTPEAW RVMMSLKSGL LAESTWALDT INILLYDDNS
1710 1720 1730 1740 1750
IMTFNLSQLP GLLELLVEYF RRCLIEIFGI LKEYEVGDPG QRTLLDPGRF
1760 1770 1780 1790 1800
SKVSSPAPME GGEEEEELLG PKLEEEEEEE VVENDEEIAF SGKDKPASEN
1810 1820 1830 1840 1850
SEEKLISKFD KLPVKIVQKN DPFVVDCSDK LGRVQEFDSG LLHWRIGGGD
1860 1870 1880 1890 1900
TTEHIQTHFE SKTELLPSRP HAPCPPAPRK HVTTAEGTPG TTDQEGPPPD
1910 1920 1930 1940 1950
GPPEKRITAT MDDMLSTRSS TLTEDGAKSS EAIKESSKFP FGISPAQSHR
1960 1970 1980 1990 2000
NIKILEDEPH SKDETPLCTL LDWQDSLAKR CVCVSNTIRS LSFVPGNDFE
2010 2020 2030 2040 2050
MSKHPGLLLI LGKLILLHHK HPERKQAPLT YEKEEEQDQG VSCNKVEWWW
2060 2070 2080 2090 2100
DCLEMLRENT LVTLANISGQ LDLSPYPESI CLPVLDGLLH WAVCPSAEAQ
2110 2120 2130 2140 2150
DPFSTLGPNA VLSPQRLVLE TLSKLSIQDN NVDLILATPP FSRLEKLYST
2160 2170 2180 2190 2200
MVRFLSDRKN PVCREMAVVL LANLAQGDSL AARAIAVQKG SIGNLLGFLE
2210 2220 2230 2240 2250
DSLAATQFQQ SQASLLHMQN PPFEPTSVDM MRRAARALLA LAKVDENHSE
2260 2270 2280
FTLYESRLLD ISVSPLMNSL VSQVICDVLF LIGQS
Length:2,285
Mass (Da):242,045
Last modified:August 30, 2005 - v3
Checksum:i85BC5B6061625D8E
GO
Isoform 2 (identifier: O14497-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1367-1583: Missing.

Show »
Length:2,068
Mass (Da):218,335
Checksum:iEF78398FE65F9E33
GO
Isoform 3 (identifier: O14497-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-383: Missing.

Show »
Length:1,902
Mass (Da):205,921
Checksum:i35B2A6F804208A19
GO

Sequence cautioni

The sequence AAF75765 differs from that shown. Reason: Frameshift at position 374.Curated
The sequence AAG33967 differs from that shown. Reason: Frameshift at positions 872 and 885.Curated
The sequence BAA23269 differs from that shown. Reason: Frameshift at several positions.Curated
The sequence BAA83073 differs from that shown. Reason: Frameshift at several positions.Curated
The sequence BAA83073 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti410G → D in AAG33967 (PubMed:11073988).Curated1
Sequence conflicti410G → D in BAA23269 (PubMed:9434167).Curated1
Sequence conflicti410G → D in BAA83073 (Ref. 8) Curated1
Sequence conflicti434M → V in AAG33967 (PubMed:11073988).Curated1
Sequence conflicti434M → V in BAA23269 (PubMed:9434167).Curated1
Sequence conflicti434M → V in BAA83073 (Ref. 8) Curated1
Sequence conflicti636P → T in AAK54505 (PubMed:11318604).Curated1
Sequence conflicti732Q → S in AAG33967 (PubMed:11073988).Curated1
Sequence conflicti732Q → S in AAG17549 (PubMed:11734557).Curated1
Sequence conflicti732Q → S in BAA23269 (PubMed:9434167).Curated1
Sequence conflicti750R → RG in BAA83073 (Ref. 8) Curated1
Sequence conflicti757P → S in AAG33967 (PubMed:11073988).Curated1
Sequence conflicti757P → S in AAG17549 (PubMed:11734557).Curated1
Sequence conflicti757P → S in BAA23269 (PubMed:9434167).Curated1
Sequence conflicti776P → L in AAG33967 (PubMed:11073988).Curated1
Sequence conflicti776P → L in AAG17549 (PubMed:11734557).Curated1
Sequence conflicti776P → L in BAA23269 (PubMed:9434167).Curated1
Sequence conflicti858M → V in AAK54505 (PubMed:11318604).Curated1
Sequence conflicti871N → T in BAA23269 (PubMed:9434167).Curated1
Sequence conflicti875M → I in AAK54505 (PubMed:11318604).Curated1
Sequence conflicti1017E → G in AAG33967 (PubMed:11073988).Curated1
Sequence conflicti1017E → G in AAG17549 (PubMed:11734557).Curated1
Sequence conflicti1017E → G in BAA23269 (PubMed:9434167).Curated1
Sequence conflicti1180Missing in BAD96995 (Ref. 10) Curated1
Sequence conflicti1307P → S in AAG33967 (PubMed:11073988).Curated1
Sequence conflicti1307P → S in AAG17549 (PubMed:11734557).Curated1
Sequence conflicti1307P → S in BAA23269 (PubMed:9434167).Curated1
Sequence conflicti1389Y → F in AAG17549 (PubMed:11734557).Curated1
Sequence conflicti1399Q → L in AAG33967 (PubMed:11073988).Curated1
Sequence conflicti1399Q → L in BAA23269 (PubMed:9434167).Curated1
Sequence conflicti1416Q → P in AAG33967 (PubMed:11073988).Curated1
Sequence conflicti1416Q → P in BAA23269 (PubMed:9434167).Curated1
Sequence conflicti1532M → V in AAG33967 (PubMed:11073988).Curated1
Sequence conflicti1638D → A in AAK54505 (PubMed:11318604).Curated1
Sequence conflicti1789A → T in BAD96995 (Ref. 10) Curated1
Sequence conflicti1839S → R in AAK54505 (PubMed:11318604).Curated1
Sequence conflicti2131N → D in AAK54505 (PubMed:11318604).Curated1
Sequence conflicti2143R → H in AAK54505 (PubMed:11318604).Curated1
Sequence conflicti2159K → E in AAK54505 (PubMed:11318604).Curated1
Sequence conflicti2182A → T in BAD96995 (Ref. 10) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076938120P → S.1 PublicationCorresponds to variant rs571264557dbSNPEnsembl.1
Natural variantiVAR_0646951020R → K Found in a clear cell renal carcinoma; somatic mutation. 1 Publication1
Natural variantiVAR_0680211658R → W Found in a gastric cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0680221907I → F Found in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs139230162dbSNPEnsembl.1
Natural variantiVAR_0680232087G → R Found in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0646962089L → P Found in a clear cell renal carcinoma case; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0371571 – 383Missing in isoform 3. 1 PublicationAdd BLAST383
Alternative sequenceiVSP_0152251367 – 1583Missing in isoform 2. 1 PublicationAdd BLAST217

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF231056 mRNA. Translation: AAG33967.1. Frameshift.
AL512408, AL034380 Genomic DNA. Translation: CAI23482.1.
AL512408, AL034380 Genomic DNA. Translation: CAI23483.1.
AL512408, AL034380 Genomic DNA. Translation: CAI23484.1.
AL034380, AL512408 Genomic DNA. Translation: CAI21621.1.
AL034380, AL512408 Genomic DNA. Translation: CAI21622.1.
AL034380, AL512408 Genomic DNA. Translation: CAI21623.1.
CH471059 Genomic DNA. Translation: EAX07795.1.
CH471059 Genomic DNA. Translation: EAX07796.1.
AF521670 mRNA. Translation: AAN03446.1.
AF219114 mRNA. Translation: AAG17549.2.
AF265208 mRNA. Translation: AAF75765.1. Frameshift.
AB001895 mRNA. Translation: BAA23269.1. Frameshift.
AB024075 Genomic DNA. Translation: BAA83073.1. Sequence problems.
AF268913 mRNA. Translation: AAK54505.1.
AK223275 mRNA. Translation: BAD96995.1.
CCDSiCCDS285.1. [O14497-1]
CCDS44091.1. [O14497-2]
PIRiT00022.
RefSeqiNP_006006.3. NM_006015.4. [O14497-1]
NP_624361.1. NM_139135.2. [O14497-2]
UniGeneiHs.468972.

Genome annotation databases

EnsembliENST00000324856; ENSP00000320485; ENSG00000117713. [O14497-1]
ENST00000374152; ENSP00000363267; ENSG00000117713. [O14497-3]
ENST00000457599; ENSP00000387636; ENSG00000117713. [O14497-2]
GeneIDi8289.
KEGGihsa:8289.
UCSCiuc001bmu.2. human. [O14497-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF231056 mRNA. Translation: AAG33967.1. Frameshift.
AL512408, AL034380 Genomic DNA. Translation: CAI23482.1.
AL512408, AL034380 Genomic DNA. Translation: CAI23483.1.
AL512408, AL034380 Genomic DNA. Translation: CAI23484.1.
AL034380, AL512408 Genomic DNA. Translation: CAI21621.1.
AL034380, AL512408 Genomic DNA. Translation: CAI21622.1.
AL034380, AL512408 Genomic DNA. Translation: CAI21623.1.
CH471059 Genomic DNA. Translation: EAX07795.1.
CH471059 Genomic DNA. Translation: EAX07796.1.
AF521670 mRNA. Translation: AAN03446.1.
AF219114 mRNA. Translation: AAG17549.2.
AF265208 mRNA. Translation: AAF75765.1. Frameshift.
AB001895 mRNA. Translation: BAA23269.1. Frameshift.
AB024075 Genomic DNA. Translation: BAA83073.1. Sequence problems.
AF268913 mRNA. Translation: AAK54505.1.
AK223275 mRNA. Translation: BAD96995.1.
CCDSiCCDS285.1. [O14497-1]
CCDS44091.1. [O14497-2]
PIRiT00022.
RefSeqiNP_006006.3. NM_006015.4. [O14497-1]
NP_624361.1. NM_139135.2. [O14497-2]
UniGeneiHs.468972.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1RYUNMR-A1000-1119[»]
ProteinModelPortaliO14497.
SMRiO14497.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113894. 59 interactors.
DIPiDIP-33016N.
IntActiO14497. 16 interactors.
MINTiMINT-2795087.
STRINGi9606.ENSP00000320485.

PTM databases

iPTMnetiO14497.
PhosphoSitePlusiO14497.

Polymorphism and mutation databases

BioMutaiARID1A.

Proteomic databases

EPDiO14497.
MaxQBiO14497.
PaxDbiO14497.
PeptideAtlasiO14497.
PRIDEiO14497.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324856; ENSP00000320485; ENSG00000117713. [O14497-1]
ENST00000374152; ENSP00000363267; ENSG00000117713. [O14497-3]
ENST00000457599; ENSP00000387636; ENSG00000117713. [O14497-2]
GeneIDi8289.
KEGGihsa:8289.
UCSCiuc001bmu.2. human. [O14497-1]

Organism-specific databases

CTDi8289.
DisGeNETi8289.
GeneCardsiARID1A.
GeneReviewsiARID1A.
HGNCiHGNC:11110. ARID1A.
HPAiCAB016334.
HPA005456.
MalaCardsiARID1A.
MIMi603024. gene.
614607. phenotype.
neXtProtiNX_O14497.
OpenTargetsiENSG00000117713.
Orphaneti1465. Coffin-Siris syndrome.
PharmGKBiPA35960.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2510. Eukaryota.
ENOG410Y034. LUCA.
GeneTreeiENSGT00550000074575.
HOVERGENiHBG058196.
InParanoidiO14497.
KOiK11653.
OMAiMDDMLSS.
OrthoDBiEOG091G00GP.
PhylomeDBiO14497.
TreeFamiTF320364.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000117713-MONOMER.
ReactomeiR-HSA-3214858. RMTs methylate histone arginines.
SIGNORiO14497.

Miscellaneous databases

ChiTaRSiARID1A. human.
EvolutionaryTraceiO14497.
GeneWikiiARID1A.
GenomeRNAii8289.
PROiO14497.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117713.
ExpressionAtlasiO14497. baseline and differential.
GenevisibleiO14497. HS.

Family and domain databases

Gene3Di1.10.150.60. 1 hit.
1.25.10.10. 1 hit.
InterProiIPR001606. ARID_dom.
IPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR021906. BAF250/Osa.
IPR033388. BAF250_C.
IPR030094. BAF250a.
[Graphical view]
PANTHERiPTHR12656. PTHR12656. 2 hits.
PTHR12656:SF12. PTHR12656:SF12. 2 hits.
PfamiPF01388. ARID. 1 hit.
PF12031. BAF250_C. 1 hit.
[Graphical view]
SMARTiSM00501. BRIGHT. 1 hit.
[Graphical view]
SUPFAMiSSF46774. SSF46774. 1 hit.
SSF48371. SSF48371. 1 hit.
PROSITEiPS51011. ARID. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiARI1A_HUMAN
AccessioniPrimary (citable) accession number: O14497
Secondary accession number(s): D3DPL1
, Q53FK9, Q5T0W1, Q5T0W2, Q5T0W3, Q8NFD6, Q96T89, Q9BY33, Q9HBJ5, Q9UPZ1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: August 30, 2005
Last modified: November 30, 2016
This is version 173 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.