Fanconi anemia group M protein; protein FACM; ATP-dependent RNA helicase FANCM; Fanconi anemia-associated polypeptide of 250 kDa; FAAP250; protein Hef ortholog (FANCM, KIAA1596)

Function

• ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair
• binds to ssDNA
• does NOT bind to dsDNA
• recruited to forks stalled by DNA interstrand cross-links, & required for cellular resistance to such lesions
• component of FA complex
• hyperphosphorylated in response to genotoxic stress
• interacts with APITD1/CENPS, FAAP24 & EME1

Structure

• belongs to the DEAD box helicase family, DEAH subfamily
• contains 1 helicase ATP-binding domain
• contains 1 helicase C-terminal domain

Compartment

nucleus

Alternative splicing

named isoforms=2

Pathology

• defects in FANCM are a cause of Fanconi anemia (FA)

More general terms

• protein subunit
• phosphoprotein
• helicase (DNA unwinding protein, DNA untwisting protein)

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=57697
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:57697
• OMIM: https://mirror.omim.org/entry/227650
• OMIM: https://mirror.omim.org/entry/609644
• UniProt: http://www.uniprot.org/uniprot/Q8IYD8.html