FANCF
Fanconi anemia group F protein
Also known as: FAF, FANCF_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NPI8
- Gene
- FANCF
- Ensembl
- ENSG00000183161
- Chromosome
- 11
- Canonical length
- 374 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
374 residues, UniProt reviewed canonical sequence.
>Q9NPI8|FANCF
1 MESLLQHLDR FSELLAVSST TYVSTWDPAT VRRALQWARY LRHIHRRFGR HGPIRTALER
61 RLHNQWRQEG GFGRGPVPGL ANFQALGHCD VLLSLRLLEN RALGDAARYH LVQQLFPGPG
121 VRDADEETLQ ESLARLARRR SAVHMLRFNG YRENPNLQED SLMKTQAELL LERLQEVGKA
181 EAERPARFLS SLWERLPQNN FLKVIAVALL QPPLSRRPQE ELEPGIHKSP GEGSQVLVHW
241 LLGNSEVFAA FCRALPAGLL TLVTSRHPAL SPVYLGLLTD WGQRLHYDLQ KGIWVGTESQ
301 DVPWEELHNR FQSLCQAPPP LKDKVLTALE TCKAQDGDFE VPGLSIWTDL LLALRSGAFR
361 KRQVLGLSAG LSSVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FANCF can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 8.8 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 8.8 nTPM
- thymus: 8.7 nTPM
- fallopian tube: 8.3 nTPM
- epididymis: 8.1 nTPM
- lymph node: 7.7 nTPM
- duodenum: 7.4 nTPM
Single-cell type
- early spermatids: 173 nCPM
- late primary spermatocytes: 113 nCPM
- respiratory ciliated cells: 37 nCPM
- cardiomyocytes: 31 nCPM
- fallopian tube ciliated cells: 31 nCPM
- parietal cells: 28 nCPM
Immune cell
- naive B-cell: 21 nTPM
- naive CD4 T-cell: 19 nTPM
- MAIT T-cell: 18 nTPM
- eosinophil: 17 nTPM
- naive CD8 T-cell: 16 nTPM
- memory B-cell: 16 nTPM
Brain region
- choroid plexus: 11 nTPM
- thalamus: 8 nTPM
- white matter: 7.4 nTPM
- midbrain: 7.3 nTPM
- medulla oblongata: 7.2 nTPM
- spinal cord: 7.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FANCF.
Disease | AllUniProt
Conditions FANCF is implicated in, by any mechanism.
- Fanconi anemia complementation group F (FANCF) MIM:603467
Disease | GeneticClinVar
57 pathogenic / likely-pathogenic of 540 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Fanconi anemia complementation group F
- Fanconi anemia
- FANCF-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.53
- gnomAD pLI
- 0.46
- gnomAD missense Z
- -1.83
- DepMap mean gene effect
- -0.22
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Fanconi anemia group F protein
- FANCF, C-terminal domain superfamily
- Fanconi anemia group F protein (FANCF)
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FANCF in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FANCF as an antibody target. Whether an autoantibody or antibody against FANCF could matter depends on whether native FANCF is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FANCF is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FANCF as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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