UniProtKB - Q9NPI8 (FANCF_HUMAN)
Fanconi anemia group F protein
FANCF
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 similarityGO - Biological processi
- cellular response to DNA damage stimulus Source: GO_Central
- interstrand cross-link repair Source: ComplexPortal
- protein monoubiquitination Source: ComplexPortal
Keywordsi
Biological process | DNA damage, DNA repair |
Enzyme and pathway databases
PathwayCommonsi | Q9NPI8 |
Reactomei | R-HSA-6783310, Fanconi Anemia Pathway |
SignaLinki | Q9NPI8 |
SIGNORi | Q9NPI8 |
Protein family/group databases
MoonDBi | Q9NPI8, Predicted |
Names & Taxonomyi
Protein namesi | Recommended name: Fanconi anemia group F proteinShort name: Protein FACF |
Gene namesi | Name:FANCF |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3587, FANCF |
MIMi | 613897, gene |
neXtProti | NX_Q9NPI8 |
VEuPathDBi | HostDB:ENSG00000183161 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Nucleus
- Fanconi anaemia nuclear complex Source: UniProtKB
- nucleoplasm Source: HPA
Other locations
- chromatin Source: ComplexPortal
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Fanconi anemia complementation group F (FANCF)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 209 | L → R: Reduced monoubiquitination of FANCD2. 1 Publication | 1 | |
Mutagenesisi | 251 | F → R: Reduced monoubiquitination of FANCD2. 1 Publication | 1 | |
Mutagenesisi | 287 | Y → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-289; A-339; A-341 and A-344. 1 Publication | 1 | |
Mutagenesisi | 289 | L → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-339; A-341 and A-344. 1 Publication | 1 | |
Mutagenesisi | 339 | F → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-341 and A-344. 1 Publication | 1 | |
Mutagenesisi | 341 | V → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-339 and A-344. 1 Publication | 1 | |
Mutagenesisi | 344 | L → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-339 and A-341. 1 Publication | 1 |
Keywords - Diseasei
Fanconi anemiaOrganism-specific databases
DisGeNETi | 2188 |
GeneReviewsi | FANCF |
MalaCardsi | FANCF |
MIMi | 603467, phenotype |
OpenTargetsi | ENSG00000183161 |
Orphaneti | 84, Fanconi anemia |
PharmGKBi | PA28001 |
Miscellaneous databases
Pharosi | Q9NPI8, Tchem |
Chemistry databases
ChEMBLi | CHEMBL2157856 |
Genetic variation databases
BioMutai | FANCF |
DMDMi | 23821547 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000087188 | 1 – 374 | Fanconi anemia group F proteinAdd BLAST | 374 |
Proteomic databases
EPDi | Q9NPI8 |
jPOSTi | Q9NPI8 |
MassIVEi | Q9NPI8 |
MaxQBi | Q9NPI8 |
PaxDbi | Q9NPI8 |
PeptideAtlasi | Q9NPI8 |
PRIDEi | Q9NPI8 |
ProteomicsDBi | 82022 |
PTM databases
iPTMneti | Q9NPI8 |
PhosphoSitePlusi | Q9NPI8 |
Expressioni
Gene expression databases
Bgeei | ENSG00000183161, Expressed in forebrain and 195 other tissues |
ExpressionAtlasi | Q9NPI8, baseline and differential |
Genevisiblei | Q9NPI8, HS |
Organism-specific databases
HPAi | ENSG00000183161, Low tissue specificity |
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 PublicationsBinary interactionsi
Q9NPI8
With | #Exp. | IntAct |
---|---|---|
FANCA [O15360] | 5 | EBI-81589,EBI-81570 |
FANCG [O15287] | 4 | EBI-81589,EBI-81610 |
HTT [P42858] | 3 | EBI-81589,EBI-466029 |
TCP11 - isoform 7 [Q8WWU5-7] | 3 | EBI-81589,EBI-17721485 |
Protein-protein interaction databases
BioGRIDi | 108483, 22 interactors |
ComplexPortali | CPX-6263, Fanconi anemia ubiquitin ligase complex |
CORUMi | Q9NPI8 |
IntActi | Q9NPI8, 12 interactors |
MINTi | Q9NPI8 |
STRINGi | 9606.ENSP00000330875 |
Chemistry databases
BindingDBi | Q9NPI8 |
Miscellaneous databases
RNActi | Q9NPI8, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q9NPI8 |
SMRi | Q9NPI8 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9NPI8 |
Family & Domainsi
Phylogenomic databases
eggNOGi | ENOG502S2Z3, Eukaryota |
GeneTreei | ENSGT00390000005623 |
HOGENOMi | CLU_770617_0_0_1 |
InParanoidi | Q9NPI8 |
OMAi | LQWARYL |
OrthoDBi | 1404593at2759 |
PhylomeDBi | Q9NPI8 |
TreeFami | TF332957 |
Family and domain databases
DisProti | DP02782 |
Gene3Di | 1.25.40.490, 1 hit |
InterProi | View protein in InterPro IPR035428, FANCF IPR038505, FANCF_C_sf |
PANTHERi | PTHR14449, PTHR14449, 1 hit |
Pfami | View protein in Pfam PF11107, FANCF, 1 hit |
i Sequence
Sequence statusi: Complete.
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_050988 | 295 | V → I. Corresponds to variant dbSNP:rs7103293EnsemblClinVar. | 1 | |
Natural variantiVAR_022270 | 320 | P → 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 |
CCDSi | CCDS7857.1 |
RefSeqi | NP_073562.1, NM_022725.3 |
Genome annotation databases
Ensembli | ENST00000327470.6; ENSP00000330875.3; ENSG00000183161.6 |
GeneIDi | 2188 |
KEGGi | hsa:2188 |
MANE-Selecti | ENST00000327470.6; ENSP00000330875.3; NM_022725.4; NP_073562.1 |
UCSCi | uc001mql.2, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Fanconi Anemia Mutation Database |
NIEHS-SNPs |
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 |
CCDSi | CCDS7857.1 |
RefSeqi | NP_073562.1, NM_022725.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2IQC | X-ray | 2.40 | A | 156-357 | [»] | |
7KZP | electron microscopy | 3.10 | F | 1-374 | [»] | |
7KZQ | electron microscopy | 4.20 | F | 1-374 | [»] | |
7KZR | electron microscopy | 4.20 | F | 1-374 | [»] | |
7KZS | electron microscopy | 4.20 | F | 1-374 | [»] | |
7KZT | electron microscopy | 4.20 | F | 1-374 | [»] | |
7KZV | electron microscopy | 4.20 | F | 1-374 | [»] | |
AlphaFoldDBi | Q9NPI8 | |||||
SMRi | Q9NPI8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108483, 22 interactors |
ComplexPortali | CPX-6263, Fanconi anemia ubiquitin ligase complex |
CORUMi | Q9NPI8 |
IntActi | Q9NPI8, 12 interactors |
MINTi | Q9NPI8 |
STRINGi | 9606.ENSP00000330875 |
Chemistry databases
BindingDBi | Q9NPI8 |
ChEMBLi | CHEMBL2157856 |
Protein family/group databases
MoonDBi | Q9NPI8, Predicted |
PTM databases
iPTMneti | Q9NPI8 |
PhosphoSitePlusi | Q9NPI8 |
Genetic variation databases
BioMutai | FANCF |
DMDMi | 23821547 |
Proteomic databases
EPDi | Q9NPI8 |
jPOSTi | Q9NPI8 |
MassIVEi | Q9NPI8 |
MaxQBi | Q9NPI8 |
PaxDbi | Q9NPI8 |
PeptideAtlasi | Q9NPI8 |
PRIDEi | Q9NPI8 |
ProteomicsDBi | 82022 |
Protocols and materials databases
Antibodypediai | 25340, 191 antibodies from 26 providers |
DNASUi | 2188 |
Genome annotation databases
Ensembli | ENST00000327470.6; ENSP00000330875.3; ENSG00000183161.6 |
GeneIDi | 2188 |
KEGGi | hsa:2188 |
MANE-Selecti | ENST00000327470.6; ENSP00000330875.3; NM_022725.4; NP_073562.1 |
UCSCi | uc001mql.2, human |
Organism-specific databases
CTDi | 2188 |
DisGeNETi | 2188 |
GeneCardsi | FANCF |
GeneReviewsi | FANCF |
HGNCi | HGNC:3587, FANCF |
HPAi | ENSG00000183161, Low tissue specificity |
MalaCardsi | FANCF |
MIMi | 603467, phenotype 613897, gene |
neXtProti | NX_Q9NPI8 |
OpenTargetsi | ENSG00000183161 |
Orphaneti | 84, Fanconi anemia |
PharmGKBi | PA28001 |
VEuPathDBi | HostDB:ENSG00000183161 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S2Z3, Eukaryota |
GeneTreei | ENSGT00390000005623 |
HOGENOMi | CLU_770617_0_0_1 |
InParanoidi | Q9NPI8 |
OMAi | LQWARYL |
OrthoDBi | 1404593at2759 |
PhylomeDBi | Q9NPI8 |
TreeFami | TF332957 |
Enzyme and pathway databases
PathwayCommonsi | Q9NPI8 |
Reactomei | R-HSA-6783310, Fanconi Anemia Pathway |
SignaLinki | Q9NPI8 |
SIGNORi | Q9NPI8 |
Miscellaneous databases
BioGRID-ORCSi | 2188, 133 hits in 1080 CRISPR screens |
ChiTaRSi | FANCF, human |
EvolutionaryTracei | Q9NPI8 |
GeneWikii | FANCF |
GenomeRNAii | 2188 |
Pharosi | Q9NPI8, Tchem |
PROi | PR:Q9NPI8 |
RNActi | Q9NPI8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000183161, Expressed in forebrain and 195 other tissues |
ExpressionAtlasi | Q9NPI8, baseline and differential |
Genevisiblei | Q9NPI8, HS |
Family and domain databases
DisProti | DP02782 |
Gene3Di | 1.25.40.490, 1 hit |
InterProi | View protein in InterPro IPR035428, FANCF IPR038505, FANCF_C_sf |
PANTHERi | PTHR14449, PTHR14449, 1 hit |
Pfami | View protein in Pfam PF11107, FANCF, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | FANCF_HUMAN | |
Accessioni | Q9NPI8Primary (citable) accession number: Q9NPI8 Secondary accession number(s): Q52LM0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 10, 2002 |
Last sequence update: | October 1, 2000 | |
Last modified: | May 25, 2022 | |
This is version 170 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references