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Q8NFD5

- ARI1B_HUMAN

UniProt

Q8NFD5 - ARI1B_HUMAN

Protein

AT-rich interactive domain-containing protein 1B

Gene

ARID1B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 2 (30 Aug 2005)
      Previous versions | rss
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    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

    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

    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 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

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

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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.By similarity

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ8NFD5.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1053 – 114492ARIDPROSITE-ProRule annotationAdd
    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.PROSITE-ProRule annotation

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti334 – 3363AGA → SRS in AAN03447. (PubMed:12200431)Curated
    Sequence conflicti446 – 4461P → A in AAN70985. (PubMed:12665591)Curated
    Sequence conflicti687 – 6871V → A in AAL76077. (PubMed:11988099)Curated
    Sequence conflicti904 – 9041T → P in AAL76077. (PubMed:11988099)Curated
    Sequence conflicti1201 – 12011T → I in AAG36928. (PubMed:11734557)Curated
    Sequence conflicti1339 – 13391P → S in AAN70985. (PubMed:12665591)Curated
    Sequence conflicti1432 – 14321P → L in BAA86549. (PubMed:10574462)Curated
    Sequence conflicti1534 – 15341P → S in AAN70985. (PubMed:12665591)Curated
    Sequence conflicti1713 – 17131D → N in AAL76077. (PubMed:11988099)Curated
    Sequence conflicti2196 – 21961D → N in AAG36928. (PubMed:11734557)Curated

    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. 1 PublicationVSP_040800Add
    BLAST
    Alternative sequencei579 – 5791Q → QDSGDATWKETFWL in isoform 2. 1 PublicationVSP_015226
    Alternative sequencei1032 – 10321K → KDSYSSQGISQPPTPGNLPV PSPMSPSSASISSFHGDESD SISSPGWPKTPSSP in isoform 3. 1 PublicationVSP_015227

    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]
    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 ]
    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

    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: October 1, 2014
    This is version 121 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

    External Data

    Dasty 3