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ARID1B

From Wikipedia, the free encyclopedia
Protein-coding gene in humans

ARID1B
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

2CXY,2EH9

Identifiers
AliasesARID1B, 6A3-5, BAF250B, BRIGHT, DAN15, ELD/OSA1, MRD12, OSA2, P250R, CSS1, AT-rich interaction domain 1B, SMARCF2
External IDsOMIM:614556;MGI:1926129;HomoloGene:32344;GeneCards:ARID1B;OMA:ARID1B - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for ARID1B
Genomic location for ARID1B
Band6q25.3Start156,776,020bp[1]
End157,210,779bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for ARID1B
Genomic location for ARID1B
Band17|17 A1Start5,044,607bp[2]
End5,397,931bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • bone marrow cells

  • epithelium of colon

  • sural nerve

  • buccal mucosa cell

  • skin of arm

  • Achilles tendon

  • tonsil

  • superior surface of tongue

  • seminal vesicula

  • left ovary
Top expressed in
  • Rostral migratory stream

  • hand

  • ciliary body

  • lobe of prostate

  • medullary collecting duct

  • zygote

  • cervix

  • pineal gland

  • epithelium of lens

  • secondary oocyte
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

57492

239985

Ensembl

ENSG00000049618

ENSMUSG00000069729

UniProt

Q8NFD5

E9Q4N7

RefSeq (mRNA)

NM_017519
NM_001363725
NM_001371656
NM_001374820
NM_001374828

NM_001085355

RefSeq (protein)

NP_059989
NP_001350654
NP_001358585
NP_001361749
NP_001361757

NP_001078824

Location (UCSC)Chr 6: 156.78 – 157.21 MbChr 17: 5.04 – 5.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

AT-rich interactive domain-containing protein 1B is aprotein that in humans is encoded by theARID1Bgene.[5] ARID1B is a component of the humanSWI/SNF chromatin remodeling complex.

Clinical significance

[edit]

Germline mutations in ARID1B are associated withCoffin–Siris syndrome.[6][7]Somatic mutations in ARID1B are associated with several cancer subtypes, suggesting that it is atumor suppressor gene.[8][9][10][11]

Interactions

[edit]

ARID1B has been shown tointeract withSMARCA4[12][13] andSMARCA2.[13]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000049618 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000069729 –Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^"Entrez Gene: ARID1B AT rich interactive domain 1B (SWI1-like)".
  6. ^Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N (April 2012). "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome".Nat. Genet.44 (4):376–8.doi:10.1038/ng.2219.PMID 22426308.S2CID 205345340.
  7. ^Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M (April 2012). "Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome".Nat. Genet.44 (4):379–80.doi:10.1038/ng.2217.PMID 22426309.S2CID 205345323.
  8. ^Shain AH, Pollack JR (2013)."The spectrum of SWI/SNF mutations, ubiquitous in human cancers".PLOS ONE.8 (1): e55119.Bibcode:2013PLoSO...855119S.doi:10.1371/journal.pone.0055119.PMC 3552954.PMID 23355908.
  9. ^Sausen M, Leary RJ, Jones S, Wu J, Reynolds CP, Liu X, Blackford A, Parmigiani G, Diaz LA, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE, Hogarty MD (January 2013)."Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma".Nat. Genet.45 (1):12–7.doi:10.1038/ng.2493.PMC 3557959.PMID 23202128.
  10. ^Shain AH, Giacomini CP, Matsukuma K, Karikari CA, Bashyam MD, Hidalgo M, Maitra A, Pollack JR (January 2012)."Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer".Proc. Natl. Acad. Sci. U.S.A.109 (5): E252–9.Bibcode:2012PNAS..109E.252S.doi:10.1073/pnas.1114817109.PMC 3277150.PMID 22233809.
  11. ^Fujimoto A, Totoki Y, Abe T, Boroevich KA, Hosoda F, Nguyen HH, Aoki M, Hosono N, Kubo M, Miya F, Arai Y, Takahashi H, Shirakihara T, Nagasaki M, Shibuya T, Nakano K, Watanabe-Makino K, Tanaka H, Nakamura H, Kusuda J, Ojima H, Shimada K, Okusaka T, Ueno M, Shigekawa Y, Kawakami Y, Arihiro K, Ohdan H, Gotoh K, Ishikawa O, Ariizumi S, Yamamoto M, Yamada T, Chayama K, Kosuge T, Yamaue H, Kamatani N, Miyano S, Nakagama H, Nakamura Y, Tsunoda T, Shibata T, Nakagawa H (July 2012). "Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators".Nat. Genet.44 (7):760–4.doi:10.1038/ng.2291.PMID 22634756.S2CID 54585617.
  12. ^Hurlstone AF, Olave IA, Barker N, van Noort M, Clevers H (May 2002)."Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein".Biochem. J.364 (Pt 1):255–64.doi:10.1042/bj3640255.PMC 1222568.PMID 11988099.
  13. ^abInoue H, Furukawa T, Giannakopoulos S, Zhou S, King DS, Tanese N (November 2002)."Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors".J. Biol. Chem.277 (44):41674–85.doi:10.1074/jbc.M205961200.PMID 12200431.

Further reading

[edit]

External links

[edit]
PDB gallery
  • 2cxy: Crystal structure of the hBAF250b AT-rich interaction domain (ARID)
    2cxy: Crystal structure of the hBAF250b AT-rich interaction domain (ARID)
(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

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