BRIP1 (alias FANCJ)
In
databases :
Entrez (http://www.ncbi.nlm.nih.gov/sites/gquery):
83990 or BRIP1
Ensembl (http://www.ensembl.org/index.html):
ENSG00000136492
UniProt (http://www.uniprot.org/):
Q9BX63
OMIM (http://www.ncbi.nlm.nih.gov/omim):
609054
HGNC (http://www.genenames.org/): 20473 or BRIP1
Gene locus:
17q23.2
Protein name:
BRCA1 interacting protein C-terminal
helicase 1 (BRIP1) or Fanconi anemia, complementation group J (FANCJ)
Protein Size:
1249 amino acids; about 141 Da
Function:
The protein encoded by BRIP1 is
DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of
chromosomal stability. It acts late in the Fanconi anemia pathway, after FANCD2
ubiquitination (see Fanconi Anemia genes). It is involved in the repair of DNA
double-strand breaks by homologous recombination in a manner that depends on
its association with BRCA1
Cancer-related alterations:
Defects in BRIP1 are a cause of low-risk
susceptibility to breast cancer.
Defects in BRIP1 are the cause of Fanconi
anemia complementation group J (FANCJ) (see Fanconi Anemia genes)
References (open access):
Pathology of hereditary breast cancer. van
der Groep P, van der Wall E, van Diest PJ. Cell Oncol (Dordr). 2011 Apr;34(2):71-88.
Targeting the FANCJ-BRCA1 interaction
promotes a switch from recombination to poleta-dependent bypass. Xie J, Litman
R, Wang S, Peng M, Guillemette S, Rooney T, Cantor SB. Oncogene. 2010 Apr
29;29(17):2499-508.
Modification of ovarian cancer risk by
BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.
Rebbeck TR, Mitra N, Domchek SM, Wan F, Chuai S, Friebel TM, Panossian S,
Spurdle A, Chenevix-Trench G; kConFab, Singer CF, Pfeiler G, Neuhausen SL,
Lynch HT, Garber JE, Weitzel JN, Isaacs C, Couch F, Narod SA, Rubinstein WS,
Tomlinson GE, Ganz PA, Olopade OI, Tung N, Blum JL, Greenberg R, Nathanson KL,
Daly MB. Cancer Res. 2009 Jul 15;69(14):5801-10.
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