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Q9NPI8

- FANCF_HUMAN

UniProt

Q9NPI8 - FANCF_HUMAN

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
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    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

    1. protein binding Source: IntAct

    GO - Biological processi

    1. DNA repair Source: Reactome

    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

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

    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 proteinPRO_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. 8 interactions.
    MINTiMINT-157055.
    STRINGi9606.ENSP00000330875.

    Structurei

    Secondary structure

    1
    374
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    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...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108483. 15 interactions.
    IntActi Q9NPI8. 8 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

    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: October 1, 2014
    This is version 116 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