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Q8NFD5

- ARI1B_HUMAN

UniProt

Q8NFD5 - ARI1B_HUMAN

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Protein

AT-rich interactive domain-containing protein 1B

Gene
ARID1B, BAF250B, DAN15, KIAA1235, OSA2
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. DNA binding Source: GDB
  2. protein binding Source: IntAct
  3. transcription coactivator activity Source: UniProtKB

GO - Biological processi

  1. chromatin-mediated maintenance of transcription Source: UniProtKB
  2. nervous system development Source: UniProtKB-KW
  3. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator

Keywords - Biological processi

Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:18040. ARID1B.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. nucleus Source: HPA
  3. SWI/SNF complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 12 (MRD12) [MIM:614562]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD12 patients present with moderate to severe psychomotor retardation, and most show evidence of muscular hypotonia. In many patients, expressive speech is more severely affected than receptive function. Additional common findings include short stature, abnormal head shape and low-set, posteriorly rotated, and abnormally shaped ears, downslanting palpebral fissures, a bulbous nasal tip, a thin upper lip, minor teeth anomalies, and brachydactyly or single palmar creases. Autistic features are uncommon.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications

Keywords - Diseasei

Mental retardation

Organism-specific databases

MIMi614562. phenotype.
Orphaneti251056. 6q25 microdeletion syndrome.
1465. Coffin-Siris syndrome.
3051. intellectual disability - sparse hair - brachydactyly.
PharmGKBiPA134909463.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 22362235AT-rich interactive domain-containing protein 1BPRO_0000200576Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication
Modified residuei516 – 5161Phosphoserine1 Publication
Modified residuei1555 – 15551Phosphoserine3 Publications
Modified residuei1559 – 15591Phosphoserine2 Publications
Modified residuei1715 – 17151Phosphoserine1 Publication
Modified residuei1777 – 17771N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ8NFD5.
PaxDbiQ8NFD5.
PRIDEiQ8NFD5.

PTM databases

PhosphoSiteiQ8NFD5.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiQ8NFD5.
BgeeiQ8NFD5.
CleanExiHS_ARID1B.
GenevestigatoriQ8NFD5.

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.6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
SMARCA2P515313EBI-679921,EBI-679562
SMARCA4P515323EBI-679921,EBI-302489

Protein-protein interaction databases

BioGridi121559. 25 interactions.
IntActiQ8NFD5. 9 interactions.
MINTiMINT-1153351.
STRINGi9606.ENSP00000275248.

Structurei

Secondary structure

1
2236
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi1046 – 10494
Helixi1056 – 107015
Helixi1087 – 109711
Helixi1100 – 11067
Helixi1109 – 11157
Helixi1122 – 113514
Helixi1137 – 11459

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2CXYX-ray1.60A1041-1159[»]
2EH9X-ray2.00A1041-1159[»]
ProteinModelPortaliQ8NFD5.
SMRiQ8NFD5. Positions 1041-1154.

Miscellaneous databases

EvolutionaryTraceiQ8NFD5.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1053 – 114492ARIDAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi419 – 4235LXXLL
Motifi2036 – 20405LXXLL

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi2 – 4746Ala-richAdd
BLAST
Compositional biasi35 – 5723Ser-richAdd
BLAST
Compositional biasi81 – 10424His-richAdd
BLAST
Compositional biasi107 – 13125Gln-richAdd
BLAST
Compositional biasi114 – 13118Poly-GlnAdd
BLAST
Compositional biasi141 – 401261Gly-richAdd
BLAST
Compositional biasi329 – 493165Ala-richAdd
BLAST
Compositional biasi574 – 63360Gln-richAdd
BLAST
Compositional biasi684 – 77188Ser-richAdd
BLAST
Compositional biasi932 – 9354Poly-Ala
Compositional biasi1034 – 10374Poly-Ser
Compositional biasi1441 – 14444Poly-Ser
Compositional biasi1459 – 1597139Pro-richAdd
BLAST
Compositional biasi1833 – 18364Poly-Pro

Sequence similaritiesi

Contains 1 ARID domain.

Phylogenomic databases

eggNOGiNOG12793.
HOVERGENiHBG058196.
KOiK11653.
OMAiPIGIQGR.
OrthoDBiEOG7M6D7M.
PhylomeDBiQ8NFD5.
TreeFamiTF320364.

Family and domain databases

Gene3Di1.10.150.60. 1 hit.
1.25.10.10. 1 hit.
InterProiIPR001606. ARID/BRIGHT_DNA-bd.
IPR011989. ARM-like.
IPR021906. DUF3518.
[Graphical view]
PfamiPF01388. ARID. 1 hit.
PF12031. DUF3518. 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. Align

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

MAHNAGAAAA AGTHSAKSGG SEAALKEGGS AAALSSSSSS SAAAAAASSS     50
SSSGPGSAME TGLLPNHKLK TVGEAPAAPP HQQHHHHHHA HHHHHHAHHL 100
HHHHALQQQL NQFQQQQQQQ QQQQQQQQQQ QHPISNNNSL GGAGGGAPQP 150
GPDMEQPQHG GAKDSAAGGQ ADPPGPPLLS KPGDEDDAPP KMGEPAGGRY 200
EHPGLGALGT QQPPVAVPGG GGGPAAVPEF NNYYGSAAPA SGGPGGRAGP 250
CFDQHGGQQS PGMGMMHSAS AAAAGAPGSM DPLQNSHEGY PNSQCNHYPG 300
YSRPGAGGGG GGGGGGGGGS GGGGGGGGAG AGGAGAGAVA AAAAAAAAAA 350
GGGGGGGYGG SSAGYGVLSS PRQQGGGMMM GPGGGGAASL SKAAAGSAAG 400
GFQRFAGQNQ HPSGATPTLN QLLTSPSPMM RSYGGSYPEY SSPSAPPPPP 450
SQPQSQAAAA GAAAGGQQAA AGMGLGKDMG AQYAAASPAW AAAQQRSHPA 500
MSPGTPGPTM GRSQGSPMDP MVMKRPQLYG MGSNPHSQPQ QSSPYPGGSY 550
GPPGPQRYPI GIQGRTPGAM AGMQYPQQQM PPQYGQQGVS GYCQQGQQPY 600
YSQQPQPPHL PPQAQYLPSQ SQQRYQPQQD MSQEGYGTRS QPPLAPGKPN 650
HEDLNLIQQE RPSSLPDLSG SIDDLPTGTE ATLSSAVSAS GSTSSQGDQS 700
NPAQSPFSPH ASPHLSSIPG GPSPSPVGSP VGSNQSRSGP ISPASIPGSQ 750
MPPQPPGSQS ESSSHPALSQ SPMPQERGFM AGTQRNPQMA QYGPQQTGPS 800
MSPHPSPGGQ MHAGISSFQQ SNSSGTYGPQ MSQYGPQGNY SRPPAYSGVP 850
SASYSGPGPG MGISANNQMH GQGPSQPCGA VPLGRMPSAG MQNRPFPGNM 900
SSMTPSSPGM SQQGGPGMGP PMPTVNRKAQ EAAAAVMQAA ANSAQSRQGS 950
FPGMNQSGLM ASSSPYSQPM NNSSSLMNTQ APPYSMAPAM VNSSAASVGL 1000
ADMMSPGESK LPLPLKADGK EEGTPQPESK SKKSSSSTTT GEKITKVYEL 1050
GNEPERKLWV DRYLTFMEER GSPVSSLPAV GKKPLDLFRL YVCVKEIGGL 1100
AQVNKNKKWR ELATNLNVGT SSSAASSLKK QYIQYLFAFE CKIERGEEPP 1150
PEVFSTGDTK KQPKLQPPSP ANSGSLQGPQ TPQSTGSNSM AEVPGDLKPP 1200
TPASTPHGQM TPMQGGRSST ISVHDPFSDV SDSSFPKRNS MTPNAPYQQG 1250
MSMPDVMGRM PYEPNKDPFG GMRKVPGSSE PFMTQGQMPN SSMQDMYNQS 1300
PSGAMSNLGM GQRQQFPYGA SYDRRHEPYG QQYPGQGPPS GQPPYGGHQP 1350
GLYPQQPNYK RHMDGMYGPP AKRHEGDMYN MQYSSQQQEM YNQYGGSYSG 1400
PDRRPIQGQY PYPYSRERMQ GPGQIQTHGI PPQMMGGPLQ SSSSEGPQQN 1450
MWAARNDMPY PYQNRQGPGG PTQAPPYPGM NRTDDMMVPD QRINHESQWP 1500
SHVSQRQPYM SSSASMQPIT RPPQPSYQTP PSLPNHISRA PSPASFQRSL 1550
ENRMSPSKSP FLPSMKMQKV MPTVPTSQVT GPPPQPPPIR REITFPPGSV 1600
EASQPVLKQR RKITSKDIVT PEAWRVMMSL KSGLLAESTW ALDTINILLY 1650
DDSTVATFNL SQLSGFLELL VEYFRKCLID IFGILMEYEV GDPSQKALDH 1700
NAARKDDSQS LADDSGKEEE DAECIDDDEE DEEDEEEDSE KTESDEKSSI 1750
ALTAPDAAAD PKEKPKQASK FDKLPIKIVK KNNLFVVDRS DKLGRVQEFN 1800
SGLLHWQLGG GDTTEHIQTH FESKMEIPPR RRPPPPLSSA GRKKEQEGKG 1850
DSEEQQEKSI IATIDDVLSA RPGALPEDAN PGPQTESSKF PFGIQQAKSH 1900
RNIKLLEDEP RSRDETPLCT IAHWQDSLAK RCICVSNIVR SLSFVPGNDA 1950
EMSKHPGLVL ILGKLILLHH EHPERKRAPQ TYEKEEDEDK GVACSKDEWW 2000
WDCLEVLRDN TLVTLANISG QLDLSAYTES ICLPILDGLL HWMVCPSAEA 2050
QDPFPTVGPN SVLSPQRLVL ETLCKLSIQD NNVDLILATP PFSRQEKFYA 2100
TLVRYVGDRK NPVCREMSMA LLSNLAQGDA LAARAIAVQK GSIGNLISFL 2150
EDGVTMAQYQ QSQHNLMHMQ PPPLEPPSVD MMCRAAKALL AMARVDENRS 2200
EFLLHEGRLL DISISAVLNS LVASVICDVL FQIGQL 2236
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 AAN70985.1 differs from that shown. Reason: Frameshift at positions 857 and 863.
The sequence CAA69592.1 differs from that shown. Reason: Frameshift at position 132.
The sequence AAL76077.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111A → AA.1 Publication
VAR_067662
Natural varianti45 – 473Missing.
VAR_067663
Natural varianti82 – 821Q → H.1 Publication
VAR_067664
Natural varianti246 – 2461G → S.1 Publication
VAR_067665
Natural varianti318 – 3192Missing.
VAR_067666
Natural varianti319 – 3191Missing.1 Publication
VAR_067667
Natural varianti327 – 3282Missing.
VAR_067668
Natural varianti333 – 3375Missing.
VAR_067669
Natural varianti363 – 3631A → V.1 Publication
VAR_067670
Natural varianti396 – 3961G → A.1 Publication
VAR_067671
Natural varianti429 – 4291M → V.1 Publication
VAR_067672
Natural varianti450 – 4501P → PP.1 Publication
VAR_067673
Natural varianti497 – 4971S → N.1 Publication
VAR_067674
Natural varianti531 – 5311M → T.1 Publication
VAR_067675
Natural varianti814 – 8141G → A in a breast cancer sample; somatic mutation. 1 Publication
VAR_036257
Natural varianti876 – 8761Q → E.1 Publication
VAR_067676
Natural varianti980 – 9801Q → L.1 Publication
VAR_067677
Natural varianti1092 – 10921V → I.1 Publication
VAR_067678
Natural varianti1249 – 12491Q → P.1 Publication
VAR_067679
Natural varianti1271 – 12711G → E.1 Publication
VAR_067680
Natural varianti1303 – 13031G → R.1 Publication
VAR_067681
Natural varianti1321 – 13211S → N.1 Publication
VAR_067682
Natural varianti1411 – 14111P → S.1 Publication
VAR_067683
Natural varianti1466 – 14661Q → K.1 Publication
VAR_067684
Natural varianti1506 – 15061R → H.1 Publication
VAR_067685
Natural varianti1573 – 15731T → M.1 Publication
VAR_067686
Natural varianti1659 – 16591N → S.1 Publication
VAR_067687
Natural varianti1733 – 17331Missing.1 Publication
VAR_067688
Natural varianti1773 – 17731K → R.1 Publication
VAR_067689
Natural varianti1851 – 18511D → N.1 Publication
VAR_067690
Natural varianti1898 – 18981K → R.1 Publication
VAR_067691
Natural varianti1954 – 19541K → R.1 Publication
VAR_067692
Natural varianti2163 – 21631Q → R.1 Publication
VAR_067693

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 750750Missing in isoform 4. VSP_040800Add
BLAST
Alternative sequencei579 – 5791Q → QDSGDATWKETFWL in isoform 2. VSP_015226
Alternative sequencei1032 – 10321K → KDSYSSQGISQPPTPGNLPV PSPMSPSSASISSFHGDESD SISSPGWPKTPSSP in isoform 3. VSP_015227

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti334 – 3363AGA → SRS in AAN03447. 1 Publication
Sequence conflicti446 – 4461P → A in AAN70985. 1 Publication
Sequence conflicti687 – 6871V → A in AAL76077. 1 Publication
Sequence conflicti904 – 9041T → P in AAL76077. 1 Publication
Sequence conflicti1201 – 12011T → I in AAG36928. 1 Publication
Sequence conflicti1339 – 13391P → S in AAN70985. 1 Publication
Sequence conflicti1432 – 14321P → L in BAA86549. 1 Publication
Sequence conflicti1534 – 15341P → S in AAN70985. 1 Publication
Sequence conflicti1713 – 17131D → N in AAL76077. 1 Publication
Sequence conflicti2196 – 21961D → N in AAG36928. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
UniGeneiHs.291587.
Hs.744461.

Genome annotation databases

EnsembliENST00000346085; ENSP00000344546; ENSG00000049618. [Q8NFD5-2]
ENST00000350026; ENSP00000055163; ENSG00000049618. [Q8NFD5-1]
ENST00000367148; ENSP00000356116; ENSG00000049618. [Q8NFD5-3]
GeneIDi57492.
KEGGihsa:57492.
UCSCiuc003qqn.3. human. [Q8NFD5-3]
uc003qqo.3. human. [Q8NFD5-2]
uc003qqp.3. human. [Q8NFD5-1]

Polymorphism databases

DMDMi73921720.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, Triplet repeat expansion

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS5251.2. [Q8NFD5-1 ]
CCDS55072.1. [Q8NFD5-2 ]
RefSeqi NP_059989.2. NM_017519.2. [Q8NFD5-1 ]
NP_065783.3. NM_020732.3. [Q8NFD5-2 ]
UniGenei Hs.291587.
Hs.744461.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2CXY X-ray 1.60 A 1041-1159 [» ]
2EH9 X-ray 2.00 A 1041-1159 [» ]
ProteinModelPortali Q8NFD5.
SMRi Q8NFD5. Positions 1041-1154.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121559. 25 interactions.
IntActi Q8NFD5. 9 interactions.
MINTi MINT-1153351.
STRINGi 9606.ENSP00000275248.

PTM databases

PhosphoSitei Q8NFD5.

Polymorphism databases

DMDMi 73921720.

Proteomic databases

MaxQBi Q8NFD5.
PaxDbi Q8NFD5.
PRIDEi Q8NFD5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000346085 ; ENSP00000344546 ; ENSG00000049618 . [Q8NFD5-2 ]
ENST00000350026 ; ENSP00000055163 ; ENSG00000049618 . [Q8NFD5-1 ]
ENST00000367148 ; ENSP00000356116 ; ENSG00000049618 . [Q8NFD5-3 ]
GeneIDi 57492.
KEGGi hsa:57492.
UCSCi uc003qqn.3. human. [Q8NFD5-3 ]
uc003qqo.3. human. [Q8NFD5-2 ]
uc003qqp.3. human. [Q8NFD5-1 ]

Organism-specific databases

CTDi 57492.
GeneCardsi GC06P157191.
GeneReviewsi ARID1B.
H-InvDB HIX0006320.
HIX0165033.
HGNCi HGNC:18040. ARID1B.
HPAi HPA016511.
MIMi 614556. gene.
614562. phenotype.
neXtProti NX_Q8NFD5.
Orphaneti 251056. 6q25 microdeletion syndrome.
1465. Coffin-Siris syndrome.
3051. intellectual disability - sparse hair - brachydactyly.
PharmGKBi PA134909463.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
HOVERGENi HBG058196.
KOi K11653.
OMAi PIGIQGR.
OrthoDBi EOG7M6D7M.
PhylomeDBi Q8NFD5.
TreeFami TF320364.

Miscellaneous databases

EvolutionaryTracei Q8NFD5.
GeneWikii ARID1B.
GenomeRNAii 57492.
NextBioi 63782.
PROi Q8NFD5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8NFD5.
Bgeei Q8NFD5.
CleanExi HS_ARID1B.
Genevestigatori Q8NFD5.

Family and domain databases

Gene3Di 1.10.150.60. 1 hit.
1.25.10.10. 1 hit.
InterProi IPR001606. ARID/BRIGHT_DNA-bd.
IPR011989. ARM-like.
IPR021906. DUF3518.
[Graphical view ]
Pfami PF01388. ARID. 1 hit.
PF12031. DUF3518. 1 hit.
[Graphical view ]
SMARTi SM00501. BRIGHT. 1 hit.
[Graphical view ]
SUPFAMi SSF46774. SSF46774. 1 hit.
PROSITEi PS51011. ARID. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones."
    Kato H., Tjernberg A., Zhang W., Krutchinsky A.N., An W., Takeuchi T., Ohtsuki Y., Sugano S., de Bruijn D.R., Chait B.T., Roeder R.G.
    J. Biol. Chem. 277:5498-5505(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), IDENTIFICATION IN THE EPAFB COMPLEX.
    Tissue: Brain.
  2. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-515.
  4. "Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats."
    Imbert G., Saudou F., Yvert G., Devys D., Trottier Y., Garnier J.-M., Weber C., Mandel J.-L., Cancel G., Abbas N., Duerr A., Didierjean O., Stevanin G., Agid Y., Brice A.
    Nat. Genet. 14:285-291(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 9-199.
  5. "Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors."
    Inoue H., Furukawa T., Giannakopoulos S., Zhou S., King D.S., Tanese N.
    J. Biol. Chem. 277:41674-41685(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 72-2236 (ISOFORM 1), TISSUE SPECIFICITY, INTERACTION WITH SMARCA2 AND SMARCA4, IDENTIFICATION IN A SWI/SNF-LIKE COMPLEX WITH ARID1A.
  6. "Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner."
    Nie Z., Yan Z., Chen E.H., Sechi S., Ling C., Zhou S., Xue Y., Yang D., Murray D., Kanakubo E., Cleary M.L., Wang W.
    Mol. Cell. Biol. 23:2942-2952(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 272-2236 (ISOFORM 1), TISSUE SPECIFICITY, IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN A SWI/SNF-LIKE EPAFB COMPLEX.
  7. "Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein."
    Hurlstone A.F., Olave I.A., Barker N., van Noort M., Clevers H.
    Biochem. J. 364:255-264(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 491-2236 (ISOFORM 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH SMARCA4, IDENTIFICATION IN A COMPLEX WITH SMARCA4 AND SMARCD1, IDENTIFICATION IN A SWI/SNF-LIKE COMPLEX WITH ARID1A.
  8. "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.
    DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 705-2236 (ISOFORM 3).
    Tissue: Brain.
  9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-516; SER-1555 AND SER-1559, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  11. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  12. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-1777, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1555 AND SER-1559, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  14. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1555 AND SER-1715, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  15. "Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability."
    Hoyer J., Ekici A.B., Endele S., Popp B., Zweier C., Wiesener A., Wohlleber E., Dufke A., Rossier E., Petsch C., Zweier M., Gohring I., Zink A.M., Rappold G., Schrock E., Wieczorek D., Riess O., Engels H., Rauch A., Reis A.
    Am. J. Hum. Genet. 90:565-572(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MRD12, VARIANTS ALA-11 INS; 45-ALA--ALA-47 DEL; HIS-82; SER-246; 318-GLY-GLY-319 DEL; GLY-319 DEL; 327-GLY-GLY-328 DEL; 333-GLY--GLY-337 DEL; VAL-363; ALA-396; VAL-429; PRO-450 INS; ASN-497; THR-531; GLU-876; LEU-980; ILE-1092; PRO-1249; GLU-1271; ARG-1303; ASN-1321; SER-1411; LYS-1466; HIS-1506; MET-1573; SER-1659; GLU-1733 DEL; ARG-1773; ASN-1851; ARG-1898; ARG-1954 AND ARG-2163.
  16. Cited for: INVOLVEMENT IN MRD12.
  17. Cited for: INVOLVEMENT IN MRD12.
  18. "Recent advances in understanding chromatin remodeling by SWI/SNF complexes."
    Martens J.A., Winston F.
    Curr. Opin. Genet. Dev. 13:136-142(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON SWI/SNF CHROMATIN REMODELING COMPLEXES.
  19. "Two related ARID family proteins are alternative subunits of human SWI/SNF complexes."
    Wang X., Nagl N.G., Wilsker D., Van Scoy M., Pacchione S., Yaciuk P., Dallas P.B., Moran E.
    Biochem. J. 383:319-325(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: DNA-BINDING, IDENTIFICATION IN SWI/SNF COMPLEXES, INTERACTION WITH SMARCA2; SMARCA4 AND SMARCC1.
  20. "The DNA-binding properties of the ARID-containing subunits of yeast and mammalian SWI/SNF complexes."
    Wilsker D., Patsialou A., Zumbrun S.D., Kim S., Chen Y., Dallas P.B., Moran E.
    Nucleic Acids Res. 32:1345-1353(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: DNA-BINDING.
  21. "Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex."
    Lange M., Kaynak B., Forster U.B., Toenjes M., Fischer J.J., Grimm C., Schlesinger J., Just S., Dunkel I., Krueger T., Mebus S., Lehrach H., Lurz R., Gobom J., Rottbauer W., Abdelilah-Seyfried S., Sperling S.
    Genes Dev. 22:2370-2384(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE BAF COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
  22. "Crystal structure of the HBAF250B AT-rich interaction domain (ARID)."
    RIKEN structural genomics initiative (RSGI)
    Submitted (OCT-2006) to the PDB data bank
    Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF 1041-1159.
  23. Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-814.

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: July 9, 2014
This is version 120 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.

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

External Data

Dasty 3

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