InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FANCM

Summary

InnateDB Protein

IDBP-600255.3

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

ENSP00000450596

InnateDB Gene

IDBG-5587 (FANCM)

Protein Structure

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.

Experimentally validated
Total	39 [view]
Protein-Protein	39 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003676	nucleic acid binding
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0004386	helicase activity
GO:0004518	nuclease activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016787	hydrolase activity

Biological Process

GO:0000712	resolution of meiotic recombination intermediates
GO:0006281	DNA repair
GO:0031297	replication fork processing
GO:0090305	nucleic acid phosphodiester bond hydrolysis

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0043240	Fanconi anaemia nuclear complex
GO:0071821	FANCM-MHF complex

Protein Structure and Domains

PDB ID

InterPro

IPR001650 Helicase, C-terminal
IPR006935 Helicase/UvrB domain
IPR011545 DEAD/DEAH box helicase domain
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00271
PF04851
PF00270

PRINTS

PIRSF

SMART

SM00490
SM00487

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q8IYD8