Homo sapiens Gene: FANCF
Summary
InnateDB Gene IDBG-36200.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FANCF
Gene Name Fanconi anemia, complementation group F
Synonyms FAF;
Species Homo sapiens
Ensembl Gene ENSG00000183161
Encoded Proteins
Fanconi anemia, complementation group F
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:22622519-22626787
Strand Reverse strand
Band p14.3
Transcripts
ENST00000327470 ENSP00000330875
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
Cellular Component
GO:0005654 nucleoplasm
GO:0043240 Fanconi anaemia nuclear complex
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Fanconi Anemia pathway pathway
DNA Repair pathway
KEGG
INOH
PID BIOCARTA
Brca1 dependent ub ligase activity [Biocarta view]
Role of brca1 brca2 and atr in cancer susceptibility [Biocarta view]
PID NCI
Fanconi anemia pathway
BARD1 signaling events
Cross-References
SwissProt Q9NPI8
TrEMBL A3KME0
UniProt Splice Variant
Entrez Gene 2188
UniGene Hs.605766 Hs.610230 Hs.632151
RefSeq NM_022725
HUGO HGNC:3587
OMIM 613897
CCDS CCDS7857
HPRD
IMGT
EMBL AF181994 AF181995 AK001716 AK023153 AY928335 BC047028 BC063038 BC093867 BC101807 CH471064
GenPept AAF26297 AAF26298 AAH47028 AAH63038 AAH93867 AAI01808 AAX09677 BAB14433 BAG50967 EAW68319
RNA Seq Atlas 2188