InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FANCF

Summary

InnateDB Protein

IDBP-36202.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FANCF

Protein Name

Fanconi anemia, complementation group F

Synonyms

FAF;

Species

Homo sapiens

Ensembl Protein

ENSP00000330875

InnateDB Gene

IDBG-36200 (FANCF)

Protein Structure

UniProt Annotation

Function

DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:11063725, ECO:0000269PubMed:18550849}.

Disease Associations

Fanconi anemia complementation group F (FANCF) [MIM:603467]: 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:10615118}. 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 24 experimentally validated interaction(s) in this database.

Experimentally validated
Total	24 [view]
Protein-Protein	21 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0004842	ubiquitin-protein transferase activity
GO:0005515	protein binding

Biological Process

GO:0001541	ovarian follicle development
GO:0006281	DNA repair
GO:0006974	cellular response to DNA damage stimulus
GO:0007283	spermatogenesis
GO:0008150	biological_process
GO:0016567	protein ubiquitination