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FANCF Fanconi anemia, complementation group F [ Homo sapiens (human) ]

Gene ID: 2188, updated on 23-May-2015
Official Symbol
FANCFprovided by HGNC
Official Full Name
Fanconi anemia, complementation group Fprovided by HGNC
Primary source
HGNC:HGNC:3587
See related
HPRD:04589; MIM:613897
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAF
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]
Orthologs
See FANCF in MapViewer
Location:
11p15
Exon count:
1
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (22622533..22625841, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (22644079..22647387, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1495 Neighboring gene uncharacterized LOC105376589 Neighboring gene uncharacterized LOC105376588 Neighboring gene growth arrest-specific 2 Neighboring gene RNA, 5S ribosomal pseudogene 338 Neighboring gene uncharacterized LOC105376590 Neighboring gene small VCP/p97-interacting protein

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • BARD1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    BARD1 signaling events, organism-specific biosystem
    BARD1 signaling events
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
  • FA core complex, organism-specific biosystem (from KEGG)
    FA core complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
  • FA core complex, conserved biosystem (from KEGG)
    FA core complex, conserved biosystemStructural complex; Genetic information processing; Repair system
  • Fanconi Anemia pathway, organism-specific biosystem (from REACTOME)
    Fanconi Anemia pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126856

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA repair TAS
Traceable Author Statement
more info
 
activation of mitophagy in response to mitochondrial depolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
biological_process ND
No biological Data available
more info
 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Fanconi anaemia nuclear complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
Preferred Names
Fanconi anemia group F protein
Names
Fanconi anemia group F protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007425.1 RefSeqGene

    Range
    5001..8309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_527

mRNA and Protein(s)

  1. NM_022725.3NP_073562.1  Fanconi anemia group F protein

    See identical proteins and their annotated locations for NP_073562.1

    Status: REVIEWED

    Source sequence(s)
    AC103801
    Consensus CDS
    CCDS7857.1
    UniProtKB/TrEMBL
    A3KME0
    UniProtKB/Swiss-Prot
    Q9NPI8
    Conserved Domains (1) summary
    pfam11107
    Location:1355
    FANCF; Fanconi anemia group F protein (FANCF)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    22622533..22625841
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    22643695..22647004
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)