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Aliases for FANCF Gene

Aliases for FANCF Gene

  • Fanconi Anemia, Complementation Group F 2 3
  • Fanconi Anemia Group F Protein 3
  • Protein FACF 4
  • FAF 3

External Ids for FANCF Gene

Summaries for FANCF Gene

Entrez Gene Summary for FANCF Gene

  • 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]

GeneCards Summary for FANCF Gene

FANCF (Fanconi Anemia, Complementation Group F) is a Protein Coding gene. Diseases associated with FANCF include fanconi anemia, complementation group f and fancf-related fanconi anemia. Among its related pathways are Chks in Checkpoint Regulation and BRCA1 Pathway.

UniProtKB/Swiss-Prot for FANCF Gene

  • 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).

Gene Wiki entry for FANCF Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCF Gene

Genomics for FANCF Gene

Genomic Location for FANCF Gene

Start:
22,622,519 bp from pter
End:
22,626,787 bp from pter
Size:
4,269 bases
Orientation:
Minus strand

Genomic View for FANCF Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FANCF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANCF Gene

Regulatory Elements for FANCF Gene

Proteins for FANCF Gene

  • Protein details for FANCF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPI8-FANCF_HUMAN
    Recommended name:
    Fanconi anemia group F protein
    Protein Accession:
    Q9NPI8
    Secondary Accessions:
    • Q52LM0

    Protein attributes for FANCF Gene

    Size:
    374 amino acids
    Molecular mass:
    42254 Da
    Quaternary structure:
    • Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCA, FANCG and FANCL, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins.

    Three dimensional structures from OCA and Proteopedia for FANCF Gene

neXtProt entry for FANCF Gene

Proteomics data for FANCF Gene at MOPED

Post-translational modifications for FANCF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FANCF Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for FANCF Gene

Domains for FANCF Gene

Gene Families for FANCF Gene

HGNC:
  • FANC :Fanconi anemia, complementation groups

Protein Domains for FANCF Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with FANCF: view

No data available for UniProtKB/Swiss-Prot for FANCF Gene

Function for FANCF Gene

Molecular function for FANCF Gene

GENATLAS Biochemistry: putative RNA binding protein,highly homolog to the prokaryotic RNA-binding protein ROM,intronless
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for FANCF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0005515 protein binding IPI 11063725
genes like me logo Genes that share ontologies with FANCF: view

Phenotypes for FANCF Gene

genes like me logo Genes that share phenotypes with FANCF: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for FANCF Gene

Localization for FANCF Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANCF Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FANCF Gene COMPARTMENTS Subcellular localization image for FANCF gene
Compartment Confidence
nucleus 5
cytosol 1
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FANCF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0043240 Fanconi anaemia nuclear complex IDA 20347428
genes like me logo Genes that share ontologies with FANCF: view

Pathways for FANCF Gene

genes like me logo Genes that share pathways with FANCF: view

Pathways by source for FANCF Gene

1 BioSystems pathway for FANCF Gene
2 Reactome pathways for FANCF Gene
1 KEGG pathway for FANCF Gene

Gene Ontology (GO) - Biological Process for FANCF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0006281 DNA repair TAS --
GO:0006974 cellular response to DNA damage stimulus --
GO:0007283 spermatogenesis IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with FANCF: view

Compounds for FANCF Gene

(1) Novoseek inferred chemical compound relationships for FANCF Gene

Compound -log(P) Hits PubMed IDs
mitomycin c 74.5 3
genes like me logo Genes that share compounds with FANCF: view

Transcripts for FANCF Gene

mRNA/cDNA for FANCF Gene

(1) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FANCF Gene

Fanconi anemia, complementation group F:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FANCF Gene

No ASD Table

Relevant External Links for FANCF Gene

GeneLoc Exon Structure for
FANCF
ECgene alternative splicing isoforms for
FANCF

Expression for FANCF Gene

mRNA expression in normal human tissues for FANCF Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FANCF Gene

SOURCE GeneReport for Unigene cluster for FANCF Gene Hs.632151

genes like me logo Genes that share expressions with FANCF: view

Orthologs for FANCF Gene

This gene was present in the common ancestor of chordates.

Orthologs for FANCF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FANCF 36
  • 99.2 (n)
  • 98.4 (a)
FANCF 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FANCF 36
  • 80.62 (n)
  • 74.16 (a)
FANCF 37
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FANCF 37
  • 50 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fancf 36
  • 61.11 (n)
  • 53.27 (a)
Fancf 16
Fancf 37
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FANCF 37
  • 42 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fancf 36
  • 60.87 (n)
  • 56.05 (a)
chicken
(Gallus gallus)
Aves FANCF 36
  • 53.12 (n)
  • 42.11 (a)
FANCF 37
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FANCF 37
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fancf 36
  • 43 (n)
  • 28.7 (a)
zebrafish
(Danio rerio)
Actinopterygii fancf 36
  • 43.48 (n)
  • 31.37 (a)
fancf 37
  • 29 (a)
OneToOne
Species with no ortholog for FANCF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FANCF Gene

ENSEMBL:
Gene Tree for FANCF (if available)
TreeFam:
Gene Tree for FANCF (if available)

Paralogs for FANCF Gene

Selected SIMAP similar genes for FANCF Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FANCF: view

No data available for Paralogs for FANCF Gene

Variants for FANCF Gene

Sequence variations from dbSNP and Humsavar for FANCF Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs377719 -- 22,622,059(+) ATATG(A/G)TAAGT downstream-variant-500B
rs410167 -- 22,627,091(-) TAATa(A/G)ccggg upstream-variant-2KB
rs414664 -- 22,623,266(+) GATTA(C/T)ACAAC utr-variant-3-prime
rs444879 -- 22,622,381(+) AATAC(A/G)TAAGA downstream-variant-500B
rs444923 -- 22,624,054(+) ATATT(C/T)GTATT utr-variant-3-prime

Relevant External Links for FANCF Gene

HapMap Linkage Disequilibrium report
FANCF
Human Gene Mutation Database (HGMD)
FANCF
Locus Specific Mutation Databases (LSDB)
FANCF

No data available for Structural Variations from Database of Genomic Variants (DGV) for FANCF Gene

Disorders for FANCF Gene

(1) OMIM Diseases for FANCF Gene (613897)

UniProtKB/Swiss-Prot

FANCF_HUMAN
  • 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:0000269 PubMed:10615118}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for FANCF Gene

(9) Novoseek inferred disease relationships for FANCF Gene

Disease -log(P) Hits PubMed IDs
fanconis anemia 95.2 7
hnscc 52.5 6
anemia 41.3 3
cancer 41 3
leukemia 27.7 2

Relevant External Links for FANCF

GeneTests
FANCF
GeneReviews
FANCF
Genetic Association Database (GAD)
FANCF
Human Genome Epidemiology (HuGE) Navigator
FANCF
genes like me logo Genes that share disorders with FANCF: view

Publications for FANCF Gene

  1. The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. (PMID: 11063725) de Winter J.P. … Joenje H. (Hum. Mol. Genet. 2000) 3 4 23
  2. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (PMID: 10615118) de Winter J.P. … Joenje H. (Nat. Genet. 2000) 3 4 23
  3. Structural determinants of human FANCF protein that function in the assembly of a DNA damage signaling complex. (PMID: 17082180) Kowal P. … Ellenberger T. (J. Biol. Chem. 2007) 3 4 23
  4. The interferon consensus sequence binding protein (ICSBP/IRF8) activates transcription of the FANCF gene during myeloid differentiation. (PMID: 19801548) Saberwal G. … Eklund E.A. (J. Biol. Chem. 2009) 3 23
  5. Evidence for at least eight Fanconi anemia genes. (PMID: 9382107) Joenje H. … Arwert F. (Am. J. Hum. Genet. 1997) 2 3

Products for FANCF Gene

Sources for FANCF Gene

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