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UniProtKB - Q9NPI8 (FANCF_HUMAN)

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Protein

Fanconi anemia group F protein

Gene

FANCF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processDNA damage, DNA repair

Enzyme and pathway databases

ReactomeiR-HSA-6783310 Fanconi Anemia Pathway
SIGNORiQ9NPI8

Protein family/group databases

MoonDBiQ9NPI8 Predicted

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000183161.4
HGNCiHGNC:3587 FANCF
MIMi613897 gene
neXtProtiNX_Q9NPI8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi82022

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, 18 interactors
CORUMiQ9NPI8
IntActiQ9NPI8, 11 interactors
MINTiQ9NPI8
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

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

Gene3Di1.25.40.490, 1 hit
InterProiView protein in InterPro
IPR035428 FANCF
IPR038505 FANCF_C_sf
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:rs7103293EnsemblClinVar.1
Natural variantiVAR_022270320P → L1 PublicationCorresponds to variant dbSNP:rs45451294EnsemblClinVar.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: July 18, 2018
This is version 148 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

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