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Protein

AT-rich interactive domain-containing protein 1B

Gene

ARID1B

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). 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). Binds DNA non-specifically.By similarity

GO - Molecular functioni

  • DNA binding Source: GDB
  • transcription coactivator activity Source: UniProtKB

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

ReactomeiR-HSA-3214858. RMTs methylate histone arginines.
SIGNORiQ8NFD5.

Names & Taxonomyi

Protein namesi
Recommended name:
AT-rich interactive domain-containing protein 1B
Short name:
ARID domain-containing protein 1B
Alternative name(s):
BRG1-associated factor 250b
Short name:
BAF250B
BRG1-binding protein hELD/OSA1
Osa homolog 2
Short name:
hOsa2
p250R
Gene namesi
Name:ARID1B
Synonyms:BAF250B, DAN15, KIAA1235, OSA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:18040. ARID1B.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation1 Publication

GO - Cellular componenti

  • cytoplasm Source: HPA
  • nBAF complex Source: Ensembl
  • nucleoplasm Source: HPA
  • SWI/SNF complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Coffin-Siris syndrome 1 (CSS1)3 Publications
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:135900

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi57492.
MalaCardsiARID1B.
MIMi135900. phenotype.
OpenTargetsiENSG00000049618.
Orphaneti251056. 6q25 microdeletion syndrome.
1465. Coffin-Siris syndrome.
3051. intellectual disability - sparse hair - brachydactyly.
PharmGKBiPA134909463.

Polymorphism and mutation databases

BioMutaiARID1B.
DMDMi73921720.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002005762 – 2236AT-rich interactive domain-containing protein 1BAdd BLAST2235

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei502PhosphoserineCombined sources1
Modified residuei516PhosphoserineCombined sources1
Modified residuei557Asymmetric dimethylarginineCombined sources1
Modified residuei1542PhosphoserineCombined sources1
Modified residuei1555PhosphoserineCombined sources1
Modified residuei1559PhosphoserineCombined sources1
Modified residuei1715PhosphoserineCombined sources1
Modified residuei1777N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

EPDiQ8NFD5.
MaxQBiQ8NFD5.
PaxDbiQ8NFD5.
PeptideAtlasiQ8NFD5.
PRIDEiQ8NFD5.

PTM databases

iPTMnetiQ8NFD5.
PhosphoSitePlusiQ8NFD5.

Expressioni

Tissue specificityi

Widely expressed with high levels in heart, skeletal muscle and kidney.3 Publications

Gene expression databases

BgeeiENSG00000049618.
CleanExiHS_ARID1B.
ExpressionAtlasiQ8NFD5. baseline and differential.
GenevisibleiQ8NFD5. HS.

Organism-specific databases

HPAiHPA016511.

Interactioni

Subunit structurei

Component of SWI/SNF chromatin remodeling complexes, in some of which it can be mutually exclusive with ARID1A/BAF250A. 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 a SWI/SNF-like EPAFb complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, SMARCC1/BAF155, SMARCC2/BAF170, ARID1B/BAF250B, MLLT1/ENL and actin. 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
SMARCA2P515313EBI-679921,EBI-679562
SMARCA4P515323EBI-679921,EBI-302489

Protein-protein interaction databases

BioGridi121559. 40 interactors.
IntActiQ8NFD5. 14 interactors.
MINTiMINT-1153351.
STRINGi9606.ENSP00000344546.

Structurei

Secondary structure

12236
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi1046 – 1049Combined sources4
Helixi1056 – 1070Combined sources15
Helixi1087 – 1097Combined sources11
Helixi1100 – 1106Combined sources7
Helixi1109 – 1115Combined sources7
Helixi1122 – 1135Combined sources14
Helixi1137 – 1145Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CXYX-ray1.60A1041-1159[»]
2EH9X-ray2.00A1041-1159[»]
ProteinModelPortaliQ8NFD5.
SMRiQ8NFD5.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8NFD5.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1053 – 1144ARIDPROSITE-ProRule annotationAdd BLAST92

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi419 – 423LXXLL5
Motifi1358 – 1377Nuclear localization signalBy similarityAdd BLAST20
Motifi2036 – 2040LXXLL5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2 – 47Ala-richAdd BLAST46
Compositional biasi35 – 57Ser-richAdd BLAST23
Compositional biasi81 – 104His-richAdd BLAST24
Compositional biasi107 – 131Gln-richAdd BLAST25
Compositional biasi114 – 131Poly-GlnAdd BLAST18
Compositional biasi141 – 401Gly-richAdd BLAST261
Compositional biasi329 – 493Ala-richAdd BLAST165
Compositional biasi574 – 633Gln-richAdd BLAST60
Compositional biasi684 – 771Ser-richAdd BLAST88
Compositional biasi932 – 935Poly-Ala4
Compositional biasi1034 – 1037Poly-Ser4
Compositional biasi1441 – 1444Poly-Ser4
Compositional biasi1459 – 1597Pro-richAdd BLAST139
Compositional biasi1833 – 1836Poly-Pro4

Sequence similaritiesi

Contains 1 ARID domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2510. Eukaryota.
ENOG410Y034. LUCA.
GeneTreeiENSGT00550000074575.
HOVERGENiHBG058196.
InParanoidiQ8NFD5.
KOiK11653.
OMAiRVQGPGQ.
OrthoDBiEOG091G00GP.
PhylomeDBiQ8NFD5.
TreeFamiTF320364.

Family and domain databases

Gene3Di1.10.150.60. 1 hit.
1.25.10.10. 1 hit.
InterProiIPR001606. ARID_dom.
IPR011989. ARM-like.
IPR021906. BAF250/Osa.
IPR033388. BAF250_C.
[Graphical view]
PANTHERiPTHR12656. PTHR12656. 1 hit.
PfamiPF01388. ARID. 1 hit.
PF12031. BAF250_C. 1 hit.
[Graphical view]
SMARTiSM00501. BRIGHT. 1 hit.
[Graphical view]
SUPFAMiSSF46774. SSF46774. 1 hit.
PROSITEiPS51011. ARID. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

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

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NFD5-1) [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
MAHNAGAAAA AGTHSAKSGG SEAALKEGGS AAALSSSSSS SAAAAAASSS
60 70 80 90 100
SSSGPGSAME TGLLPNHKLK TVGEAPAAPP HQQHHHHHHA HHHHHHAHHL
110 120 130 140 150
HHHHALQQQL NQFQQQQQQQ QQQQQQQQQQ QHPISNNNSL GGAGGGAPQP
160 170 180 190 200
GPDMEQPQHG GAKDSAAGGQ ADPPGPPLLS KPGDEDDAPP KMGEPAGGRY
210 220 230 240 250
EHPGLGALGT QQPPVAVPGG GGGPAAVPEF NNYYGSAAPA SGGPGGRAGP
260 270 280 290 300
CFDQHGGQQS PGMGMMHSAS AAAAGAPGSM DPLQNSHEGY PNSQCNHYPG
310 320 330 340 350
YSRPGAGGGG GGGGGGGGGS GGGGGGGGAG AGGAGAGAVA AAAAAAAAAA
360 370 380 390 400
GGGGGGGYGG SSAGYGVLSS PRQQGGGMMM GPGGGGAASL SKAAAGSAAG
410 420 430 440 450
GFQRFAGQNQ HPSGATPTLN QLLTSPSPMM RSYGGSYPEY SSPSAPPPPP
460 470 480 490 500
SQPQSQAAAA GAAAGGQQAA AGMGLGKDMG AQYAAASPAW AAAQQRSHPA
510 520 530 540 550
MSPGTPGPTM GRSQGSPMDP MVMKRPQLYG MGSNPHSQPQ QSSPYPGGSY
560 570 580 590 600
GPPGPQRYPI GIQGRTPGAM AGMQYPQQQM PPQYGQQGVS GYCQQGQQPY
610 620 630 640 650
YSQQPQPPHL PPQAQYLPSQ SQQRYQPQQD MSQEGYGTRS QPPLAPGKPN
660 670 680 690 700
HEDLNLIQQE RPSSLPDLSG SIDDLPTGTE ATLSSAVSAS GSTSSQGDQS
710 720 730 740 750
NPAQSPFSPH ASPHLSSIPG GPSPSPVGSP VGSNQSRSGP ISPASIPGSQ
760 770 780 790 800
MPPQPPGSQS ESSSHPALSQ SPMPQERGFM AGTQRNPQMA QYGPQQTGPS
810 820 830 840 850
MSPHPSPGGQ MHAGISSFQQ SNSSGTYGPQ MSQYGPQGNY SRPPAYSGVP
860 870 880 890 900
SASYSGPGPG MGISANNQMH GQGPSQPCGA VPLGRMPSAG MQNRPFPGNM
910 920 930 940 950
SSMTPSSPGM SQQGGPGMGP PMPTVNRKAQ EAAAAVMQAA ANSAQSRQGS
960 970 980 990 1000
FPGMNQSGLM ASSSPYSQPM NNSSSLMNTQ APPYSMAPAM VNSSAASVGL
1010 1020 1030 1040 1050
ADMMSPGESK LPLPLKADGK EEGTPQPESK SKKSSSSTTT GEKITKVYEL
1060 1070 1080 1090 1100
GNEPERKLWV DRYLTFMEER GSPVSSLPAV GKKPLDLFRL YVCVKEIGGL
1110 1120 1130 1140 1150
AQVNKNKKWR ELATNLNVGT SSSAASSLKK QYIQYLFAFE CKIERGEEPP
1160 1170 1180 1190 1200
PEVFSTGDTK KQPKLQPPSP ANSGSLQGPQ TPQSTGSNSM AEVPGDLKPP
1210 1220 1230 1240 1250
TPASTPHGQM TPMQGGRSST ISVHDPFSDV SDSSFPKRNS MTPNAPYQQG
1260 1270 1280 1290 1300
MSMPDVMGRM PYEPNKDPFG GMRKVPGSSE PFMTQGQMPN SSMQDMYNQS
1310 1320 1330 1340 1350
PSGAMSNLGM GQRQQFPYGA SYDRRHEPYG QQYPGQGPPS GQPPYGGHQP
1360 1370 1380 1390 1400
GLYPQQPNYK RHMDGMYGPP AKRHEGDMYN MQYSSQQQEM YNQYGGSYSG
1410 1420 1430 1440 1450
PDRRPIQGQY PYPYSRERMQ GPGQIQTHGI PPQMMGGPLQ SSSSEGPQQN
1460 1470 1480 1490 1500
MWAARNDMPY PYQNRQGPGG PTQAPPYPGM NRTDDMMVPD QRINHESQWP
1510 1520 1530 1540 1550
SHVSQRQPYM SSSASMQPIT RPPQPSYQTP PSLPNHISRA PSPASFQRSL
1560 1570 1580 1590 1600
ENRMSPSKSP FLPSMKMQKV MPTVPTSQVT GPPPQPPPIR REITFPPGSV
1610 1620 1630 1640 1650
EASQPVLKQR RKITSKDIVT PEAWRVMMSL KSGLLAESTW ALDTINILLY
1660 1670 1680 1690 1700
DDSTVATFNL SQLSGFLELL VEYFRKCLID IFGILMEYEV GDPSQKALDH
1710 1720 1730 1740 1750
NAARKDDSQS LADDSGKEEE DAECIDDDEE DEEDEEEDSE KTESDEKSSI
1760 1770 1780 1790 1800
ALTAPDAAAD PKEKPKQASK FDKLPIKIVK KNNLFVVDRS DKLGRVQEFN
1810 1820 1830 1840 1850
SGLLHWQLGG GDTTEHIQTH FESKMEIPPR RRPPPPLSSA GRKKEQEGKG
1860 1870 1880 1890 1900
DSEEQQEKSI IATIDDVLSA RPGALPEDAN PGPQTESSKF PFGIQQAKSH
1910 1920 1930 1940 1950
RNIKLLEDEP RSRDETPLCT IAHWQDSLAK RCICVSNIVR SLSFVPGNDA
1960 1970 1980 1990 2000
EMSKHPGLVL ILGKLILLHH EHPERKRAPQ TYEKEEDEDK GVACSKDEWW
2010 2020 2030 2040 2050
WDCLEVLRDN TLVTLANISG QLDLSAYTES ICLPILDGLL HWMVCPSAEA
2060 2070 2080 2090 2100
QDPFPTVGPN SVLSPQRLVL ETLCKLSIQD NNVDLILATP PFSRQEKFYA
2110 2120 2130 2140 2150
TLVRYVGDRK NPVCREMSMA LLSNLAQGDA LAARAIAVQK GSIGNLISFL
2160 2170 2180 2190 2200
EDGVTMAQYQ QSQHNLMHMQ PPPLEPPSVD MMCRAAKALL AMARVDENRS
2210 2220 2230
EFLLHEGRLL DISISAVLNS LVASVICDVL FQIGQL
Length:2,236
Mass (Da):236,123
Last modified:August 30, 2005 - v2
Checksum:i4538B4747606C918
GO
Isoform 2 (identifier: Q8NFD5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     579-579: Q → QDSGDATWKETFWL

Show »
Length:2,249
Mass (Da):237,661
Checksum:iC7E3990BF1FD9712
GO
Isoform 3 (identifier: Q8NFD5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1032-1032: K → KDSYSSQGISQPPTPGNLPVPSPMSPSSASISSFHGDESDSISSPGWPKTPSSP

Show »
Length:2,289
Mass (Da):241,463
Checksum:i1DD3E3DB4D4BD73E
GO
Isoform 4 (identifier: Q8NFD5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-750: Missing.

Show »
Length:1,486
Mass (Da):162,470
Checksum:iD9BF024652EC0031
GO

Sequence cautioni

The sequence AAL76077 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAN70985 differs from that shown. Reason: Frameshift at positions 857 and 863.Curated
The sequence CAA69592 differs from that shown. Reason: Frameshift at position 132.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti334 – 336AGA → SRS in AAN03447 (PubMed:12200431).Curated3
Sequence conflicti446P → A in AAN70985 (PubMed:12665591).Curated1
Sequence conflicti687V → A in AAL76077 (PubMed:11988099).Curated1
Sequence conflicti904T → P in AAL76077 (PubMed:11988099).Curated1
Sequence conflicti1201T → I in AAG36928 (PubMed:11734557).Curated1
Sequence conflicti1339P → S in AAN70985 (PubMed:12665591).Curated1
Sequence conflicti1432P → L in BAA86549 (PubMed:10574462).Curated1
Sequence conflicti1534P → S in AAN70985 (PubMed:12665591).Curated1
Sequence conflicti1713D → N in AAL76077 (PubMed:11988099).Curated1
Sequence conflicti2196D → N in AAG36928 (PubMed:11734557).Curated1

Polymorphismi

The poly-Gln region is polymorphic and the number of Gln varies in the population (from 17 to 23).

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06766211A → AA.1 Publication1
Natural variantiVAR_06766345 – 47Missing .1 Publication3
Natural variantiVAR_06766482Q → H.1 Publication1
Natural variantiVAR_067665246G → S.1 PublicationCorresponds to variant rs375160616dbSNPEnsembl.1
Natural variantiVAR_067666318 – 319Missing .1 Publication2
Natural variantiVAR_067667319Missing .1 Publication1
Natural variantiVAR_067668327 – 328Missing .1 Publication2
Natural variantiVAR_067669333 – 337Missing .1 Publication5
Natural variantiVAR_067670363A → V.1 PublicationCorresponds to variant rs748273011dbSNPEnsembl.1
Natural variantiVAR_067671396G → A.1 PublicationCorresponds to variant rs760718156dbSNPEnsembl.1
Natural variantiVAR_067672429M → V.1 PublicationCorresponds to variant rs199948752dbSNPEnsembl.1
Natural variantiVAR_067673450P → PP.1 Publication1
Natural variantiVAR_067674497S → N.1 PublicationCorresponds to variant rs764716697dbSNPEnsembl.1
Natural variantiVAR_067675531M → T.1 PublicationCorresponds to variant rs141260832dbSNPEnsembl.1
Natural variantiVAR_036257814G → A in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_067676876Q → E.1 PublicationCorresponds to variant rs138254872dbSNPEnsembl.1
Natural variantiVAR_067677980Q → L.1 PublicationCorresponds to variant rs139620600dbSNPEnsembl.1
Natural variantiVAR_0676781092V → I.1 PublicationCorresponds to variant rs775526039dbSNPEnsembl.1
Natural variantiVAR_0676791249Q → P.1 PublicationCorresponds to variant rs768013849dbSNPEnsembl.1
Natural variantiVAR_0676801271G → E.1 PublicationCorresponds to variant rs149389876dbSNPEnsembl.1
Natural variantiVAR_0676811303G → R.1 PublicationCorresponds to variant rs199674889dbSNPEnsembl.1
Natural variantiVAR_0676821321S → N.1 PublicationCorresponds to variant rs142808724dbSNPEnsembl.1
Natural variantiVAR_0676831411P → S.1 Publication1
Natural variantiVAR_0676841466Q → K.1 Publication1
Natural variantiVAR_0676851506R → H.1 Publication1
Natural variantiVAR_0676861573T → M.1 PublicationCorresponds to variant rs777745107dbSNPEnsembl.1
Natural variantiVAR_0676871659N → S.1 PublicationCorresponds to variant rs140177120dbSNPEnsembl.1
Natural variantiVAR_0676881733Missing .1 Publication1
Natural variantiVAR_0676891773K → R.1 PublicationCorresponds to variant rs574141489dbSNPEnsembl.1
Natural variantiVAR_0676901851D → N.1 PublicationCorresponds to variant rs200305796dbSNPEnsembl.1
Natural variantiVAR_0676911898K → R.1 PublicationCorresponds to variant rs758204258dbSNPEnsembl.1
Natural variantiVAR_0676921954K → R.1 PublicationCorresponds to variant rs756220726dbSNPEnsembl.1
Natural variantiVAR_0676932163Q → R.1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0408001 – 750Missing in isoform 4. 1 PublicationAdd BLAST750
Alternative sequenceiVSP_015226579Q → QDSGDATWKETFWL in isoform 2. 1 Publication1
Alternative sequenceiVSP_0152271032K → KDSYSSQGISQPPTPGNLPV PSPMSPSSASISSFHGDESD SISSPGWPKTPSSP in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF259792 mRNA. Translation: AAG36928.1.
AL355297
, AL049820, AL162578, AL591545 Genomic DNA. Translation: CAH71534.1.
AL049820
, AL162578, AL355297, AL591545 Genomic DNA. Translation: CAI42308.1.
AL162578
, AL049820, AL355297, AL591545 Genomic DNA. Translation: CAI40014.1.
AL591545
, AL049820, AL162578, AL355297 Genomic DNA. Translation: CAI40666.1.
AL049820, AL591545 Genomic DNA. Translation: CAI42305.1.
AL591545, AL049820 Genomic DNA. Translation: CAI40664.1.
AJ001216 Genomic DNA. No translation available.
Y08266 mRNA. Translation: CAA69592.1. Frameshift.
AF521671 mRNA. Translation: AAN03447.1.
AF253515 mRNA. Translation: AAN70985.1. Sequence problems.
AF468300 mRNA. Translation: AAL76077.1. Different initiation.
AB033061 mRNA. Translation: BAA86549.1.
CCDSiCCDS5251.2. [Q8NFD5-1]
CCDS55072.1. [Q8NFD5-2]
RefSeqiNP_059989.2. NM_017519.2. [Q8NFD5-1]
NP_065783.3. NM_020732.3. [Q8NFD5-2]
XP_005267126.2. XM_005267069.4. [Q8NFD5-3]
UniGeneiHs.291587.
Hs.744461.

Genome annotation databases

EnsembliENST00000346085; ENSP00000344546; ENSG00000049618. [Q8NFD5-2]
ENST00000350026; ENSP00000055163; ENSG00000049618. [Q8NFD5-1]
ENST00000636930; ENSP00000490491; ENSG00000049618. [Q8NFD5-3]
ENST00000637810; ENSP00000489636; ENSG00000049618. [Q8NFD5-4]
GeneIDi57492.
KEGGihsa:57492.
UCSCiuc003qqo.4. human. [Q8NFD5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, Triplet repeat expansion

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF259792 mRNA. Translation: AAG36928.1.
AL355297
, AL049820, AL162578, AL591545 Genomic DNA. Translation: CAH71534.1.
AL049820
, AL162578, AL355297, AL591545 Genomic DNA. Translation: CAI42308.1.
AL162578
, AL049820, AL355297, AL591545 Genomic DNA. Translation: CAI40014.1.
AL591545
, AL049820, AL162578, AL355297 Genomic DNA. Translation: CAI40666.1.
AL049820, AL591545 Genomic DNA. Translation: CAI42305.1.
AL591545, AL049820 Genomic DNA. Translation: CAI40664.1.
AJ001216 Genomic DNA. No translation available.
Y08266 mRNA. Translation: CAA69592.1. Frameshift.
AF521671 mRNA. Translation: AAN03447.1.
AF253515 mRNA. Translation: AAN70985.1. Sequence problems.
AF468300 mRNA. Translation: AAL76077.1. Different initiation.
AB033061 mRNA. Translation: BAA86549.1.
CCDSiCCDS5251.2. [Q8NFD5-1]
CCDS55072.1. [Q8NFD5-2]
RefSeqiNP_059989.2. NM_017519.2. [Q8NFD5-1]
NP_065783.3. NM_020732.3. [Q8NFD5-2]
XP_005267126.2. XM_005267069.4. [Q8NFD5-3]
UniGeneiHs.291587.
Hs.744461.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CXYX-ray1.60A1041-1159[»]
2EH9X-ray2.00A1041-1159[»]
ProteinModelPortaliQ8NFD5.
SMRiQ8NFD5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121559. 40 interactors.
IntActiQ8NFD5. 14 interactors.
MINTiMINT-1153351.
STRINGi9606.ENSP00000344546.

PTM databases

iPTMnetiQ8NFD5.
PhosphoSitePlusiQ8NFD5.

Polymorphism and mutation databases

BioMutaiARID1B.
DMDMi73921720.

Proteomic databases

EPDiQ8NFD5.
MaxQBiQ8NFD5.
PaxDbiQ8NFD5.
PeptideAtlasiQ8NFD5.
PRIDEiQ8NFD5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000346085; ENSP00000344546; ENSG00000049618. [Q8NFD5-2]
ENST00000350026; ENSP00000055163; ENSG00000049618. [Q8NFD5-1]
ENST00000636930; ENSP00000490491; ENSG00000049618. [Q8NFD5-3]
ENST00000637810; ENSP00000489636; ENSG00000049618. [Q8NFD5-4]
GeneIDi57492.
KEGGihsa:57492.
UCSCiuc003qqo.4. human. [Q8NFD5-1]

Organism-specific databases

CTDi57492.
DisGeNETi57492.
GeneCardsiARID1B.
GeneReviewsiARID1B.
H-InvDBHIX0006320.
HIX0165033.
HGNCiHGNC:18040. ARID1B.
HPAiHPA016511.
MalaCardsiARID1B.
MIMi135900. phenotype.
614556. gene.
neXtProtiNX_Q8NFD5.
OpenTargetsiENSG00000049618.
Orphaneti251056. 6q25 microdeletion syndrome.
1465. Coffin-Siris syndrome.
3051. intellectual disability - sparse hair - brachydactyly.
PharmGKBiPA134909463.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2510. Eukaryota.
ENOG410Y034. LUCA.
GeneTreeiENSGT00550000074575.
HOVERGENiHBG058196.
InParanoidiQ8NFD5.
KOiK11653.
OMAiRVQGPGQ.
OrthoDBiEOG091G00GP.
PhylomeDBiQ8NFD5.
TreeFamiTF320364.

Enzyme and pathway databases

ReactomeiR-HSA-3214858. RMTs methylate histone arginines.
SIGNORiQ8NFD5.

Miscellaneous databases

ChiTaRSiARID1B. human.
EvolutionaryTraceiQ8NFD5.
GeneWikiiARID1B.
GenomeRNAii57492.
PROiQ8NFD5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000049618.
CleanExiHS_ARID1B.
ExpressionAtlasiQ8NFD5. baseline and differential.
GenevisibleiQ8NFD5. HS.

Family and domain databases

Gene3Di1.10.150.60. 1 hit.
1.25.10.10. 1 hit.
InterProiIPR001606. ARID_dom.
IPR011989. ARM-like.
IPR021906. BAF250/Osa.
IPR033388. BAF250_C.
[Graphical view]
PANTHERiPTHR12656. PTHR12656. 1 hit.
PfamiPF01388. ARID. 1 hit.
PF12031. BAF250_C. 1 hit.
[Graphical view]
SMARTiSM00501. BRIGHT. 1 hit.
[Graphical view]
SUPFAMiSSF46774. SSF46774. 1 hit.
PROSITEiPS51011. ARID. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiARI1B_HUMAN
AccessioniPrimary (citable) accession number: Q8NFD5
Secondary accession number(s): Q5JRD1
, Q5VYC4, Q8IZY8, Q8TEV0, Q8TF02, Q99491, Q9ULI5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: August 30, 2005
Last modified: November 30, 2016
This is version 145 of the entry and version 2 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

Caution

It is uncertain whether Met-1 or Met-59 is the initiator.Curated

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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.