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)

More general terms

• nuclear protein
• phosphoprotein
• protein subunit

Additional terms

• Fanconi anemia

Component of

• Fanconi anemia complementation group complex (FA complex)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2175
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2175
• OMIM: https://mirror.omim.org/entry/227650
• OMIM: https://mirror.omim.org/entry/607139
• UniProt: http://www.uniprot.org/uniprot/O15360.html