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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:
1) ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair
2) binds to ssDNA
3) does NOT bind to dsDNA
4) recruited to forks stalled by DNA interstrand cross-links, & required for cellular resistance to such lesions
5) component of FA complex
6) hyperphosphorylated in response to genotoxic stress
7) 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)
Related
Fanconi anemia
General
helicase (DNA unwinding protein, DNA untwisting protein)
phosphoprotein
protein subunit
Properties
SIZE: entity length = 2048 aa
MW = 232 kD
COMPARTMENT: cell nucleus
MOTIF: helicase
NAME: helicase
SITE: 98-266
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 111-118
DEAD/H box
NAME: DEAD/H box
SITE: 214-217
Helicase C-terminal {452-627}
Ser phosphorylation site {S1437}
FAAP24/EME1 interaction {1727-2048}
Database Correlations
OMIM correlations
UniProt Q8IYD8
PFAM correlations
Entrez Gene 57697
Kegg hsa:57697
ENZYME 3.6.4.13
References
- UniProt :accession Q8IYD8
- Fanconi Anemia mutation Database
http://www.rockefeller.edu/fanconi/mutate/
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FANCM
Component-of
Fanconi anemia complementation group complex (FA complex)