ARID1B
AT-rich interactive domain-containing protein 1B
Also known as: 6A3-5, ARI1B_HUMAN, BAF250b, DAN15, ELD/OSA1, KIAA1235, p250R, SMARCF2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NFD5
- Gene
- ARID1B
- Ensembl
- ENSG00000049618
- Chromosome
- 6
- Canonical length
- 2319 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Canonical amino-acid sequenceUniProt
2319 residues, UniProt reviewed canonical sequence.
>Q8NFD5|ARID1B
1 MAARAAAAAA AAAARARARA GSGERRAPPG PRPAPGARDL EAGARGAAAA AAAPGPMLGG
61 GGDGGGGLNS VHHHPLLPRH ELNMAHNAGA AAAAGTHSAK SGGSEAALKE GGSAAALSSS
121 SSSSAAAAAA SSSSSSGPGS AMETGLLPNH KLKTVGEAPA APPHQQHHHH HHAHHHHHHA
181 HHLHHHHALQ QQLNQFQQQQ QQQQQQQQQQ QQQQHPISNN NSLGGAGGGA PQPGPDMEQP
241 QHGGAKDSAA GGQADPPGPP LLSKPGDEDD APPKMGEPAG GRYEHPGLGA LGTQQPPVAV
301 PGGGGGPAAV PEFNNYYGSA APASGGPGGR AGPCFDQHGG QQSPGMGMMH SASAAAAGAP
361 GSMDPLQNSH EGYPNSQCNH YPGYSRPGAG GGGGGGGGGG GGSGGGGGGG GAGAGGAGAG
421 AVAAAAAAAA AAAGGGGGGG YGGSSAGYGV LSSPRQQGGG MMMGPGGGGA ASLSKAAAGS
481 AAGGFQRFAG QNQHPSGATP TLNQLLTSPS PMMRSYGGSY PEYSSPSAPP PPPSQPQSQA
541 AAAGAAAGGQ QAAAGMGLGK DMGAQYAAAS PAWAAAQQRS HPAMSPGTPG PTMGRSQGSP
601 MDPMVMKRPQ LYGMGSNPHS QPQQSSPYPG GSYGPPGPQR YPIGIQGRTP GAMAGMQYPQ
661 QQMPPQYGQQ GVSGYCQQGQ QPYYSQQPQP PHLPPQAQYL PSQSQQRYQP QQDMSQEGYG
721 TRSQPPLAPG KPNHEDLNLI QQERPSSLPD LSGSIDDLPT GTEATLSSAV SASGSTSSQG
781 DQSNPAQSPF SPHASPHLSS IPGGPSPSPV GSPVGSNQSR SGPISPASIP GSQMPPQPPG
841 SQSESSSHPA LSQSPMPQER GFMAGTQRNP QMAQYGPQQT GPSMSPHPSP GGQMHAGISS
901 FQQSNSSGTY GPQMSQYGPQ GNYSRPPAYS GVPSASYSGP GPGMGISANN QMHGQGPSQP
961 CGAVPLGRMP SAGMQNRPFP GNMSSMTPSS PGMSQQGGPG MGPPMPTVNR KAQEAAAAVM
1021 QAAANSAQSR QGSFPGMNQS GLMASSSPYS QPMNNSSSLM NTQAPPYSMA PAMVNSSAAS
1081 VGLADMMSPG ESKLPLPLKA DGKEEGTPQP ESKSKKSSSS TTTGEKITKV YELGNEPERK
1141 LWVDRYLTFM EERGSPVSSL PAVGKKPLDL FRLYVCVKEI GGLAQVNKNK KWRELATNLN
1201 VGTSSSAASS LKKQYIQYLF AFECKIERGE EPPPEVFSTG DTKKQPKLQP PSPANSGSLQ
1261 GPQTPQSTGS NSMAEVPGDL KPPTPASTPH GQMTPMQGGR SSTISVHDPF SDVSDSSFPK
1321 RNSMTPNAPY QQGMSMPDVM GRMPYEPNKD PFGGMRKVPG SSEPFMTQGQ MPNSSMQDMY
1381 NQSPSGAMSN LGMGQRQQFP YGASYDRRHE PYGQQYPGQG PPSGQPPYGG HQPGLYPQQP
1441 NYKRHMDGMY GPPAKRHEGD MYNMQYSSQQ QEMYNQYGGS YSGPDRRPIQ GQYPYPYSRE
1501 RMQGPGQIQT HGIPPQMMGG PLQSSSSEGP QQNMWAARND MPYPYQNRQG PGGPTQAPPY
1561 PGMNRTDDMM VPDQRINHES QWPSHVSQRQ PYMSSSASMQ PITRPPQPSY QTPPSLPNHI
1621 SRAPSPASFQ RSLENRMSPS KSPFLPSMKM QKVMPTVPTS QVTGPPPQPP PIRREITFPP
1681 GSVEASQPVL KQRRKITSKD IVTPEAWRVM MSLKSGLLAE STWALDTINI LLYDDSTVAT
1741 FNLSQLSGFL ELLVEYFRKC LIDIFGILME YEVGDPSQKA LDHNAARKDD SQSLADDSGK
1801 EEEDAECIDD DEEDEEDEEE DSEKTESDEK SSIALTAPDA AADPKEKPKQ ASKFDKLPIK
1861 IVKKNNLFVV DRSDKLGRVQ EFNSGLLHWQ LGGGDTTEHI QTHFESKMEI PPRRRPPPPL
1921 SSAGRKKEQE GKGDSEEQQE KSIIATIDDV LSARPGALPE DANPGPQTES SKFPFGIQQA
1981 KSHRNIKLLE DEPRSRDETP LCTIAHWQDS LAKRCICVSN IVRSLSFVPG NDAEMSKHPG
2041 LVLILGKLIL LHHEHPERKR APQTYEKEED EDKGVACSKD EWWWDCLEVL RDNTLVTLAN
2101 ISGQLDLSAY TESICLPILD GLLHWMVCPS AEAQDPFPTV GPNSVLSPQR LVLETLCKLS
2161 IQDNNVDLIL ATPPFSRQEK FYATLVRYVG DRKNPVCREM SMALLSNLAQ GDALAARAIA
2221 VQKGSIGNLI SFLEDGVTMA QYQQSQHNLM HMQPPPLEPP SVDMMCRAAK ALLAMARVDE
2281 NRSEFLLHEG RLLDISISAV LNSLVASVIC DVLFQIGQLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ARID1B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.58
- Highest tissue expression
- 30 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 30 nTPM
- bone marrow: 27 nTPM
- parathyroid gland: 25 nTPM
- thymus: 23 nTPM
- tongue: 23 nTPM
- skin: 21 nTPM
Single-cell type
- pituitary stem cells: 1,048 nCPM
- renal connecting tubule cells: 1,028 nCPM
- myonuclei: 998 nCPM
- distal convoluted tubule cells: 882 nCPM
- lactotrophs: 867 nCPM
- b-cells: 867 nCPM
Immune cell
- plasmacytoid DC: 9.3 nTPM
- naive B-cell: 6.8 nTPM
- memory B-cell: 5.2 nTPM
- basophil: 4.9 nTPM
- neutrophil: 4.2 nTPM
- gdT-cell: 4.1 nTPM
Brain region
- cerebellum: 107 nTPM
- hippocampal formation: 91 nTPM
- cerebral cortex: 82 nTPM
- white matter: 82 nTPM
- amygdala: 79 nTPM
- medulla oblongata: 78 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ARID1B.
Disease | AllUniProt
Conditions ARID1B is implicated in, by any mechanism.
- Coffin-Siris syndrome 1 (CSS1) MIM:135900
Disease | GeneticClinVar
580 pathogenic / likely-pathogenic of 2,712 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Coffin-Siris syndrome 1
- Inborn genetic diseases
- ARID1B-related BAFopathy
- ARID1B-Related Disorder
- Intellectual disability
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.1
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.59
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chromatin remodeling
- nervous system development
- positive regulation of cell differentiation
- positive regulation of DNA-templated transcription
- positive regulation of double-strand break repair
- positive regulation of myoblast differentiation
- positive regulation of T cell differentiation
- regulation of G0 to G1 transition
- regulation of G1/S transition of mitotic cell cycle
- regulation of mitotic metaphase/anaphase transition
- regulation of nucleotide-excision repair
- regulation of transcription by RNA polymerase II
- transcription initiation-coupled chromatin remodeling
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- ARID DNA-binding domain
- SWI/SNF-like complex subunit BAF250/Osa
- SWI/SNF-like complex subunit BAF250, C-terminal
- ARID DNA-binding domain superfamily
- ARID/BRIGHT DNA binding domain
- SWI/SNF-like complex subunit BAF250/Osa
- AT-rich interactive domain-containing protein 1B, ARID domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ARID1B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ARID1B as an antibody target. Whether an autoantibody or antibody against ARID1B could matter depends on whether native ARID1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ARID1B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ARID1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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