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Q9NPI8

- FANCF_HUMAN

UniProt

Q9NPI8 - FANCF_HUMAN

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Protein
Fanconi anemia group F protein
Gene
FANCF
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. protein binding Source: IntAct
Complete GO annotation...

GO - Biological processi

  1. DNA repair Source: Reactome
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair

Enzyme and pathway databases

ReactomeiREACT_18410. Fanconi Anemia pathway.

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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:3587. FANCF.

Subcellular locationi

Nucleus 2 Publications

GO - Cellular componenti

  1. Fanconi anaemia nuclear complex Source: UniProtKB
  2. nucleoplasm Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi209 – 2091L → R: Reduced monoubiquitination of FANCD2. 1 Publication
Mutagenesisi251 – 2511F → R: Reduced monoubiquitination of FANCD2. 1 Publication
Mutagenesisi287 – 2871Y → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-289; A-339; A-341 and A-344. 1 Publication
Mutagenesisi289 – 2891L → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-339; A-341 and A-344. 1 Publication
Mutagenesisi339 – 3391F → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-341 and A-344. 1 Publication
Mutagenesisi341 – 3411V → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-339 and A-344. 1 Publication
Mutagenesisi344 – 3441L → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-339 and A-341. 1 Publication

Keywords - Diseasei

Fanconi anemia

Organism-specific databases

MIMi603467. phenotype.
Orphaneti84. Fanconi anemia.
PharmGKBiPA28001.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 374374Fanconi anemia group F protein
PRO_0000087188Add
BLAST

Proteomic databases

MaxQBiQ9NPI8.
PaxDbiQ9NPI8.
PRIDEiQ9NPI8.

PTM databases

PhosphoSiteiQ9NPI8.

Expressioni

Gene expression databases

ArrayExpressiQ9NPI8.
BgeeiQ9NPI8.
CleanExiHS_FANCF.
GenevestigatoriQ9NPI8.

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

WithEntry#Exp.IntActNotes
FANCAO153605EBI-81589,EBI-81570
FANCGO152874EBI-81589,EBI-81610

Protein-protein interaction databases

BioGridi108483. 15 interactions.
IntActiQ9NPI8. 6 interactions.
MINTiMINT-157055.
STRINGi9606.ENSP00000330875.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi160 – 17415
Helixi186 – 19510
Helixi198 – 20912
Helixi235 – 2439
Helixi245 – 25410
Helixi257 – 26610
Helixi268 – 2703
Helixi271 – 28313
Beta strandi286 – 2883
Turni289 – 2924
Beta strandi293 – 2953
Helixi304 – 31512
Helixi319 – 33517
Helixi346 – 3549

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2IQCX-ray2.40A156-357[»]
ProteinModelPortaliQ9NPI8.
SMRiQ9NPI8. Positions 159-357.

Miscellaneous databases

EvolutionaryTraceiQ9NPI8.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG41771.
HOVERGENiHBG051550.
InParanoidiQ9NPI8.
KOiK10893.
OMAiWARYLRH.
OrthoDBiEOG7S4X6V.
PhylomeDBiQ9NPI8.
TreeFamiTF332957.

Sequencei

Sequence statusi: Complete.

Q9NPI8-1 [UniParc]FASTAAdd to Basket

« Hide

MESLLQHLDR FSELLAVSST TYVSTWDPAT VRRALQWARY LRHIHRRFGR    50
HGPIRTALER RLHNQWRQEG GFGRGPVPGL ANFQALGHCD VLLSLRLLEN 100
RALGDAARYH LVQQLFPGPG VRDADEETLQ ESLARLARRR SAVHMLRFNG 150
YRENPNLQED SLMKTQAELL LERLQEVGKA EAERPARFLS SLWERLPQNN 200
FLKVIAVALL QPPLSRRPQE ELEPGIHKSP GEGSQVLVHW LLGNSEVFAA 250
FCRALPAGLL TLVTSRHPAL SPVYLGLLTD WGQRLHYDLQ KGIWVGTESQ 300
DVPWEELHNR FQSLCQAPPP LKDKVLTALE TCKAQDGDFE VPGLSIWTDL 350
LLALRSGAFR KRQVLGLSAG LSSV 374
Length:374
Mass (Da):42,254
Last modified:October 1, 2000 - v1
Checksum:i1F295CD1FBE6ED7D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti295 – 2951V → I.
Corresponds to variant rs7103293 [ dbSNP | Ensembl ].
VAR_050988
Natural varianti320 – 3201P → L.1 Publication
Corresponds to variant rs45451294 [ dbSNP | Ensembl ].
VAR_022270

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.1. human.

Polymorphism databases

DMDMi23821547.

Keywords - Coding sequence diversityi

Polymorphism

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:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.632151.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2IQC X-ray 2.40 A 156-357 [» ]
ProteinModelPortali Q9NPI8.
SMRi Q9NPI8. Positions 159-357.
ModBasei Search...

Protein-protein interaction databases

BioGridi 108483. 15 interactions.
IntActi Q9NPI8. 6 interactions.
MINTi MINT-157055.
STRINGi 9606.ENSP00000330875.

Chemistry

ChEMBLi CHEMBL2157856.

PTM databases

PhosphoSitei Q9NPI8.

Polymorphism databases

DMDMi 23821547.

Proteomic databases

MaxQBi Q9NPI8.
PaxDbi Q9NPI8.
PRIDEi Q9NPI8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000327470 ; ENSP00000330875 ; ENSG00000183161 .
GeneIDi 2188.
KEGGi hsa:2188.
UCSCi uc001mql.1. human.

Organism-specific databases

CTDi 2188.
GeneCardsi GC11M022600.
GeneReviewsi FANCF.
HGNCi HGNC:3587. FANCF.
MIMi 603467. phenotype.
613897. gene.
neXtProti NX_Q9NPI8.
Orphaneti 84. Fanconi anemia.
PharmGKBi PA28001.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG41771.
HOVERGENi HBG051550.
InParanoidi Q9NPI8.
KOi K10893.
OMAi WARYLRH.
OrthoDBi EOG7S4X6V.
PhylomeDBi Q9NPI8.
TreeFami TF332957.

Enzyme and pathway databases

Reactomei REACT_18410. Fanconi Anemia pathway.

Miscellaneous databases

ChiTaRSi FANCF. human.
EvolutionaryTracei Q9NPI8.
GeneWikii FANCF.
GenomeRNAii 2188.
NextBioi 8843.
PROi Q9NPI8.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9NPI8.
Bgeei Q9NPI8.
CleanExi HS_FANCF.
Genevestigatori Q9NPI8.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN FANCF.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. NIEHS SNPs program
    Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LEU-320.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain and Skin.
  5. "Structural determinants of human FANCF protein that function in the assembly of a DNA damage signaling complex."
    Kowal P., Gurtan A.M., Stuckert P., D'Andrea A.D., Ellenberger T.
    J. Biol. Chem. 282:2047-2055(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL PROTEIN SEQUENCE, IDENTIFICATION BY MASS SPECTROMETRY, X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 156-357, MUTAGENESIS OF LEU-209; PHE-251; TYR-287; LEU-289; PHE-339; VAL-341 AND LEU-344, SUBUNIT.
  6. "The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG."
    de Winter J.P., van der Weel L., de Groot J., Stone S., Waisfisz Q., Arwert F., Scheper R.J., Kruyt F.A.E., Hoatlin M.E., Joenje H.
    Hum. Mol. Genet. 9:2665-2674(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT, SUBCELLULAR LOCATION.
  7. "A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome."
    Meetei A.R., Sechi S., Wallisch M., Yang D., Young M.K., Joenje H., Hoatlin M.E., Wang W.
    Mol. Cell. Biol. 23:3417-3426(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCG AND FANCL.
  8. Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCG AND FANCL.
  9. "A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M."
    Meetei A.R., Medhurst A.L., Ling C., Xue Y., Singh T.R., Bier P., Steltenpool J., Stone S., Dokal I., Mathew C.G., Hoatlin M., Joenje H., de Winter J.P., Wang W.
    Nat. Genet. 37:958-963(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCG; FANCL AND FANCM.
  10. "HES1 is a novel interactor of the Fanconi anemia core complex."
    Tremblay C.S., Huang F.F., Habi O., Huard C.C., Godin C., Levesque G., Carreau M.
    Blood 112:2062-2070(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HES1, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiFANCF_HUMAN
AccessioniPrimary (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: September 3, 2014
This is version 115 of the entry and version 1 of the sequence. [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

External Data

Dasty 3

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