Homo sapiens Protein: FANCM | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-5589.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | FANCM | ||||||||||||||||||
Protein Name | Fanconi anemia, complementation group M | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000267430 | ||||||||||||||||||
InnateDB Gene | IDBG-5587 (FANCM) | ||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||
Function | ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to dsDNA. Recruited to forks stalled by DNA interstrand cross-links, and required for cellular resistance to such lesions. {ECO:0000269PubMed:16116422, ECO:0000269PubMed:16116434, ECO:0000269Ref.8, ECO:0000269Ref.9}. | ||||||||||||||||||
Subcellular Localization | Nucleus {ECO:0000269PubMed:16116422, ECO:0000269Ref.8, ECO:0000269Ref.9}. | ||||||||||||||||||
Disease Associations | Fanconi anemia complementation group M (FANCM) [MIM:614087]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269PubMed:16116422}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | |||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR001650
Helicase, C-terminal IPR006166 ERCC4 domain IPR006935 Helicase/UvrB domain IPR010994 RuvA domain 2-like IPR011335 Restriction endonuclease type II-like IPR011545 DEAD/DEAH box helicase domain IPR014001 Helicase, superfamily 1/2, ATP-binding domain IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00271
PF02732 PF04851 PF00270 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00490
SM00891 SM00487 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q8IYD8 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q8IYD8 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 57697 | ||||||||||||||||||
UniGene | Hs.509229 | ||||||||||||||||||
RefSeq | NP_065988 | ||||||||||||||||||
HUGO | HGNC:23168 | ||||||||||||||||||
OMIM | 609644 | ||||||||||||||||||
CCDS | CCDS32070 | ||||||||||||||||||
HPRD | 13876 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB046816 AK093422 AL121809 BC036056 BC140776 BC144511 DQ140356 | ||||||||||||||||||
GenPept | AAH36056 AAI40777 AAI44512 AAZ53290 BAB13422 BAC04159 | ||||||||||||||||||