Search
Fanconi anemia group A protein; protein FACA (FANCA FAA FACA FANCH)
Function:
- DNA repair protein
- postreplication repair
- cell cycle checkpoint function
- interstrand DNA cross-link repair
- maintenance of normal chromosome stability
- phosphorylated upon DNA damage, probably by ATM or ATR
- phosphorylation is required for the formation of the nuclear complex
- not phosphorylated in cells derived from groups A, B, C, E, F, G, & H
- anti-oncoprotein ?
- component of multisubunit FA complex (not found in FA patients)
Compartment:
- nucleus, cytoplasm
- major form is nuclear
- minor form is cytoplasmic
Alternative splicing: named isoforms=2
Pathology:
- defects in FANCA are a cause of Fanconi anemia (FA)
Related
Fanconi anemia
General
nuclear protein
phosphoprotein
protein subunit
Properties
SIZE: entity length = 1455 aa
MW = 163 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: nuclear translocation signal {18-34}
Ser phosphorylation site {S849}
Ser phosphorylation site {S850}
Ser phosphorylation site {S858}
Ser phosphorylation site {S1449}
Database Correlations
OMIM correlations
MORBIDMAP 607139
UniProt O15360
Pfam PF03511
Entrez Gene 2175
Kegg hsa:2175
References
- UniProt :accession O15360
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/FA1ID102.html
- Fanconi Anemia mutation Database
http://www.rockefeller.edu/fanconi/mutate/jumpa.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FANCA
- NIEHS-SNPs
http://egp.gs.washington.edu/data/fanca/
Component-of
Fanconi anemia complementation group complex (FA complex)