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Protein

Fanconi anemia group F protein

Gene

FANCF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processDNA damage, DNA repair

Enzyme and pathway databases

ReactomeiR-HSA-6783310. Fanconi Anemia Pathway.
SIGNORiQ9NPI8.

Names & Taxonomyi

Protein namesi
Recommended name:
Fanconi anemia group F protein
Short name:
Protein FACF
Gene namesi
Name:FANCF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:3587. FANCF.

Subcellular locationi

GO - Cellular componenti

  • Fanconi anaemia nuclear complex Source: UniProtKB
  • nucleoplasm Source: Reactome

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Fanconi anemia complementation group F (FANCF)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:603467

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi209L → R: Reduced monoubiquitination of FANCD2. 1 Publication1
Mutagenesisi251F → R: Reduced monoubiquitination of FANCD2. 1 Publication1
Mutagenesisi287Y → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-289; A-339; A-341 and A-344. 1 Publication1
Mutagenesisi289L → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-339; A-341 and A-344. 1 Publication1
Mutagenesisi339F → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-341 and A-344. 1 Publication1
Mutagenesisi341V → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-339 and A-344. 1 Publication1
Mutagenesisi344L → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-339 and A-341. 1 Publication1

Keywords - Diseasei

Fanconi anemia

Organism-specific databases

DisGeNETi2188.
GeneReviewsiFANCF.
MalaCardsiFANCF.
MIMi603467. phenotype.
OpenTargetsiENSG00000183161.
Orphaneti84. Fanconi anemia.
PharmGKBiPA28001.

Chemistry databases

ChEMBLiCHEMBL2157856.

Polymorphism and mutation databases

BioMutaiFANCF.
DMDMi23821547.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000871881 – 374Fanconi anemia group F proteinAdd BLAST374

Proteomic databases

EPDiQ9NPI8.
MaxQBiQ9NPI8.
PaxDbiQ9NPI8.
PeptideAtlasiQ9NPI8.
PRIDEiQ9NPI8.

PTM databases

iPTMnetiQ9NPI8.
PhosphoSitePlusiQ9NPI8.

Expressioni

Gene expression databases

BgeeiENSG00000183161.
CleanExiHS_FANCF.
ExpressionAtlasiQ9NPI8. baseline and differential.
GenevisibleiQ9NPI8. HS.

Interactioni

Subunit structurei

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.6 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi108483. 14 interactors.
IntActiQ9NPI8. 8 interactors.
MINTiMINT-157055.
STRINGi9606.ENSP00000330875.

Chemistry databases

BindingDBiQ9NPI8.

Structurei

Secondary structure

1374
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi160 – 174Combined sources15
Helixi186 – 195Combined sources10
Helixi198 – 209Combined sources12
Helixi235 – 243Combined sources9
Helixi245 – 254Combined sources10
Helixi257 – 266Combined sources10
Helixi268 – 270Combined sources3
Helixi271 – 283Combined sources13
Beta strandi286 – 288Combined sources3
Turni289 – 292Combined sources4
Beta strandi293 – 295Combined sources3
Helixi304 – 315Combined sources12
Helixi319 – 335Combined sources17
Helixi346 – 354Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2IQCX-ray2.40A156-357[»]
ProteinModelPortaliQ9NPI8.
SMRiQ9NPI8.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NPI8.

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IKQV. Eukaryota.
ENOG4111WMC. LUCA.
GeneTreeiENSGT00390000005623.
HOVERGENiHBG051550.
InParanoidiQ9NPI8.
KOiK10893.
OMAiWARYLRH.
OrthoDBiEOG091G18J8.
PhylomeDBiQ9NPI8.
TreeFamiTF332957.

Family and domain databases

InterProiView protein in InterPro
IPR035428. FANCF.
IPR025825. FANCF_met.
PANTHERiPTHR14449. PTHR14449. 1 hit.
PfamiView protein in Pfam
PF11107. FANCF. 1 hit.
ProDomiView protein in ProDom or Entries sharing at least one domain
PD321645. PD321645. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9NPI8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MESLLQHLDR FSELLAVSST TYVSTWDPAT VRRALQWARY LRHIHRRFGR
60 70 80 90 100
HGPIRTALER RLHNQWRQEG GFGRGPVPGL ANFQALGHCD VLLSLRLLEN
110 120 130 140 150
RALGDAARYH LVQQLFPGPG VRDADEETLQ ESLARLARRR SAVHMLRFNG
160 170 180 190 200
YRENPNLQED SLMKTQAELL LERLQEVGKA EAERPARFLS SLWERLPQNN
210 220 230 240 250
FLKVIAVALL QPPLSRRPQE ELEPGIHKSP GEGSQVLVHW LLGNSEVFAA
260 270 280 290 300
FCRALPAGLL TLVTSRHPAL SPVYLGLLTD WGQRLHYDLQ KGIWVGTESQ
310 320 330 340 350
DVPWEELHNR FQSLCQAPPP LKDKVLTALE TCKAQDGDFE VPGLSIWTDL
360 370
LLALRSGAFR KRQVLGLSAG LSSV
Length:374
Mass (Da):42,254
Last modified:October 1, 2000 - v1
Checksum:i1F295CD1FBE6ED7D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050988295V → I. Corresponds to variant dbSNP:rs7103293Ensembl.1
Natural variantiVAR_022270320P → L1 PublicationCorresponds to variant dbSNP:rs45451294Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF181995 mRNA. Translation: AAF26298.1.
AF181994 mRNA. Translation: AAF26297.1.
AK023153 mRNA. Translation: BAB14433.1.
AY928335 Genomic DNA. Translation: AAX09677.1.
BC047028 mRNA. Translation: AAH47028.1.
BC093867 mRNA. Translation: AAH93867.1.
BC101807 mRNA. Translation: AAI01808.1.
CCDSiCCDS7857.1.
RefSeqiNP_073562.1. NM_022725.3.
UniGeneiHs.632151.

Genome annotation databases

EnsembliENST00000327470; ENSP00000330875; ENSG00000183161.
GeneIDi2188.
KEGGihsa:2188.
UCSCiuc001mql.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFANCF_HUMAN
AccessioniPrimary (citable) accession number: Q9NPI8
Secondary accession number(s): Q52LM0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 1, 2000
Last modified: August 30, 2017
This is version 140 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references