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SMARCB1

From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens
SMARCB1
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

5AJ1

Identifiers
AliasesSMARCB1, BAF47, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS, CSS3, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, INI-1
External IDsOMIM:601607;MGI:1328366;HomoloGene:2310;GeneCards:SMARCB1;OMA:SMARCB1 - orthologs
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for SMARCB1
Genomic location for SMARCB1
Band22q11.23|22q11Start23,786,931bp[1]
End23,838,009bp[1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)[2]
Chromosome 10 (mouse)
Genomic location for SMARCB1
Genomic location for SMARCB1
Band10|10 C1Start75,732,603bp[2]
End75,757,451bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ganglionic eminence

  • ventricular zone

  • right hemisphere of cerebellum

  • stromal cell of endometrium

  • olfactory zone of nasal mucosa

  • islet of Langerhans

  • left testis

  • left ovary

  • right testis

  • right ovary
Top expressed in
  • Rostral migratory stream

  • ventricular zone

  • ganglionic eminence

  • external carotid artery

  • internal carotid artery

  • epiblast

  • Paneth cell

  • Ileal epithelium

  • embryo

  • medial ganglionic eminence
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6598

20587

Ensembl

ENSG00000099956
ENSG00000275837

ENSMUSG00000000902

UniProt

Q12824

Q9Z0H3

RefSeq (mRNA)

NM_001007468
NM_003073
NM_001317946
NM_001362877

NM_001161853
NM_011418

RefSeq (protein)

NP_001007469
NP_001304875
NP_003064
NP_001349806

NP_001155325
NP_035548

Location (UCSC)Chr 22: 23.79 – 23.84 MbChr 10: 75.73 – 75.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is aprotein that in humans is encoded by theSMARCB1gene.[5][6][7]

Function

[edit]

The protein encoded by this gene is part of a complex that relieves repressivechromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encodednuclear protein may also bind to and enhance the DNA joining activity ofHIV-1 integrase. This gene has been found to be atumor suppressor andmutations in it have been associated with malignantrhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene.[8]

Interactions

[edit]

SMARCB1 has been shown tointeract with:

References

[edit]
  1. ^abcENSG00000275837 GRCh38: Ensembl release 89: ENSG00000099956, ENSG00000275837 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000000902 –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. ^Kalpana GV, Marmon S, Wang W, Crabtree GR, Goff SP (January 1995). "Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5".Science.266 (5193):2002–6.doi:10.1126/science.7801128.PMID 7801128.
  6. ^abCheng SW, Davies KP, Yung E, Beltran RJ, Yu J, Kalpana GV (May 1999). "c-MYC interacts with INI1/hSNF5 and requires the SWI/SNF complex for transactivation function".Nat Genet.22 (1):102–5.doi:10.1038/8811.PMID 10319872.S2CID 12945791.
  7. ^Lee D, Sohn H, Kalpana GV, Choe J (June 1999). "Interaction of E1 and hSNF5 proteins stimulates replication of human papillomavirus DNA".Nature.399 (6735):487–91.Bibcode:1999Natur.399..487L.doi:10.1038/20966.PMID 10365963.S2CID 4414296.
  8. ^"Entrez Gene: SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1".
  9. ^abcdefWang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR (October 1996)."Purification and biochemical heterogeneity of the mammalian SWI-SNF complex".EMBO J.15 (19):5370–82.doi:10.1002/j.1460-2075.1996.tb00921.x.PMC 452280.PMID 8895581.
  10. ^abKato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, Ohtsuki Y, Sugano S, de Bruijn DR, Chait BT, Roeder RG (February 2002)."SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones".J. Biol. Chem.277 (7):5498–505.doi:10.1074/jbc.M108702200.hdl:2066/170683.PMID 11734557.
  11. ^Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S (June 2003)."The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome".Cell.113 (7):905–17.doi:10.1016/s0092-8674(03)00436-7.PMID 12837248.
  12. ^Bochar DA, Wang L, Beniya H, Kinev A, Xue Y, Lane WS, Wang W, Kashanchi F, Shiekhattar R (July 2000)."BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer".Cell.102 (2):257–65.doi:10.1016/s0092-8674(00)00030-1.PMID 10943845.S2CID 6500100.
  13. ^abcCho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (September 1998)."A human RNA polymerase II complex containing factors that modify chromatin structure".Mol. Cell. Biol.18 (9):5355–63.doi:10.1128/MCB.18.9.5355.PMC 109120.PMID 9710619.
  14. ^Lee D, Kim JW, Seo T, Hwang SG, Choi EJ, Choe J (June 2002)."SWI/SNF complex interacts with tumor suppressor p53 and is necessary for the activation of p53-mediated transcription".J. Biol. Chem.277 (25):22330–7.doi:10.1074/jbc.M111987200.PMID 11950834.
  15. ^abcdSif S, Saurin AJ, Imbalzano AN, Kingston RE (March 2001)."Purification and characterization of mSin3A-containing Brg1 and hBrm chromatin remodeling complexes".Genes Dev.15 (5):603–18.doi:10.1101/gad.872801.PMC 312641.PMID 11238380.
  16. ^abcdWu DY, Tkachuck DC, Roberson RS, Schubach WH (August 2002)."The human SNF5/INI1 protein facilitates the function of the growth arrest and DNA damage-inducible protein (GADD34) and modulates GADD34-bound protein phosphatase-1 activity".J. Biol. Chem.277 (31):27706–15.doi:10.1074/jbc.M200955200.PMID 12016208.
  17. ^Adler HT, Chinery R, Wu DY, Kussick SJ, Payne JM, Fornace AJ, Tkachuk DC (October 1999)."Leukemic HRX fusion proteins inhibit GADD34-induced apoptosis and associate with the GADD34 and hSNF5/INI1 proteins".Mol. Cell. Biol.19 (10):7050–60.doi:10.1128/mcb.19.10.7050.PMC 84700.PMID 10490642.
  18. ^abZhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A, Crabtree GR (November 1998)."Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling".Cell.95 (5):625–36.doi:10.1016/s0092-8674(00)81633-5.PMID 9845365.S2CID 3184211.
  19. ^Sullivan EK, Weirich CS, Guyon JR, Sif S, Kingston RE (September 2001)."Transcriptional activation domains of human heat shock factor 1 recruit human SWI/SNF".Mol. Cell. Biol.21 (17):5826–37.doi:10.1128/mcb.21.17.5826-5837.2001.PMC 87302.PMID 11486022.
  20. ^Otsuki T, Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, Iwamatsu A, Ozawa K, Liu JM (November 2001)."Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex".Hum. Mol. Genet.10 (23):2651–60.doi:10.1093/hmg/10.23.2651.PMID 11726552.
  21. ^Craig E, Zhang ZK, Davies KP, Kalpana GV (January 2002)."A masked NES in INI1/hSNF5 mediates hCRM1-dependent nuclear export: implications for tumorigenesis".EMBO J.21 (1–2):31–42.doi:10.1093/emboj/21.1.31.PMC 125819.PMID 11782423.

Further reading

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External links

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