Reviewed,
UniProtKB/Swiss-Prot Q9NPI8 (FANCF_HUMAN)
Last modified
January 19, 2010.
Version 78.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Fanconi anemia group F protein Short name=Protein FACF | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Complete proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 374 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | 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. |
| Subunit structure | 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. Ref.5 Ref.6 |
| Subcellular location | |
| Involvement in disease | Defects in FANCF are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, 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. Ref.7 Ref.8 Ref.9 |
Ontologies
| Keywords | |
|---|---|
| Biological process | DNA damage DNA repair |
| Cellular component | Nucleus |
| Coding sequence diversity | Polymorphism |
| Disease | Fanconi anemia |
| Technical term | 3D-structure Complete proteome Direct protein sequencing |
| Gene Ontology (GO) | |
| Biological process | DNA repair Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | protein binding Ref.6 Inferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||||||||||||||||
Molecule processing | ||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 374 | 374 | Fanconi anemia group F protein | PRO_0000087188 | ||||||||||||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||||||||||||
| Natural variant | 295 | 1 | V → I: dbSNP rs7103293. | VAR_050988 | ||||||||||||||||||||||||||||||
| Natural variant | 320 | 1 | P → L: dbSNP rs45451294. Ref.3 | VAR_022270 | ||||||||||||||||||||||||||||||
Experimental info | ||||||||||||||||||||||||||||||||||
| Mutagenesis | 209 | 1 | L → R: Reduced monoubiquitination of FANCD2. Ref.5 | |||||||||||||||||||||||||||||||
| Mutagenesis | 251 | 1 | F → R: Reduced monoubiquitination of FANCD2. Ref.5 | |||||||||||||||||||||||||||||||
| Mutagenesis | 287 | 1 | Y → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-289; A-339; A-341 and A-344. Ref.5 | |||||||||||||||||||||||||||||||
| Mutagenesis | 289 | 1 | L → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-339; A-341 and A-344. Ref.5 | |||||||||||||||||||||||||||||||
| Mutagenesis | 339 | 1 | F → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-341 and A-344. Ref.5 | |||||||||||||||||||||||||||||||
| Mutagenesis | 341 | 1 | V → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-339 and A-344. Ref.5 | |||||||||||||||||||||||||||||||
| Mutagenesis | 344 | 1 | L → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-339 and A-341. Ref.5 | |||||||||||||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||||||||||
| Helix | 160 – 174 | 15 | ||||||||||||||||||||||||||||||||
| Helix | 186 – 195 | 10 | ||||||||||||||||||||||||||||||||
| Helix | 198 – 209 | 12 | ||||||||||||||||||||||||||||||||
| Helix | 235 – 243 | 9 | ||||||||||||||||||||||||||||||||
| Helix | 245 – 254 | 10 | ||||||||||||||||||||||||||||||||
| Helix | 257 – 266 | 10 | ||||||||||||||||||||||||||||||||
| Helix | 268 – 270 | 3 | ||||||||||||||||||||||||||||||||
| Helix | 271 – 283 | 13 | ||||||||||||||||||||||||||||||||
| Beta strand | 286 – 288 | 3 | ||||||||||||||||||||||||||||||||
| Turn | 289 – 292 | 4 | ||||||||||||||||||||||||||||||||
| Beta strand | 293 – 295 | 3 | ||||||||||||||||||||||||||||||||
| Helix | 304 – 315 | 12 | ||||||||||||||||||||||||||||||||
| Helix | 319 – 335 | 17 | ||||||||||||||||||||||||||||||||
| Helix | 346 – 354 | 9 | ||||||||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM." de Winter J.P., Rooimans M.A., van der Weel L., van Berkel C.G.M., de Groot J., Waisfisz Q., Pronk J.C., Arwert F., Mathew C.G., Scheper R.J., Hoatlin M.E., Buchwald M., Joenje H. Nat. Genet. 24:15-16(2000) [PubMed: 10615118] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [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: 15489334] [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: 17082180] [Abstract] Cited for: PARTIAL PROTEIN SEQUENCE, 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: 11063725] [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: 12724401] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCG AND FANCL. |
| [8] | "X-linked inheritance of Fanconi anemia complementation group B." Meetei A.R., Levitus M., Xue Y., Medhurst A.L., Zwaan M., Ling C., Rooimans M.A., Bier P., Hoatlin M., Pals G., de Winter J.P., Wang W., Joenje H. Nat. Genet. 36:1219-1224(2004) [PubMed: 15502827] [Abstract] 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: 16116422] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCG; FANCL AND FANCM. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | 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. | ||||||||||||
| IPI | IPI00009290. | ||||||||||||
| RefSeq | NP_073562.1. | ||||||||||||
| UniGene | Hs.713574 | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
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| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q9NPI8. 5 interactions. | ||||||||||||
| STRING | Q9NPI8. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | Q9NPI8. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000327470; ENSP00000330875; ENSG00000183161; Homo sapiens. [Genome view] | ||||||||||||
| GeneID | 2188. | ||||||||||||
| KEGG | hsa:2188. | ||||||||||||
| UCSC | uc001mql.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 2188. | ||||||||||||
| GeneCards | GC11M022600. | ||||||||||||
| H-InvDB | HIX0009507. HIX0036329. | ||||||||||||
| HGNC | HGNC:3587. FANCF. | ||||||||||||
| MIM | 227650. phenotype. 603467. gene+phenotype. | ||||||||||||
| Orphanet | 84. Fanconi anemia. | ||||||||||||
| PharmGKB | PA28001. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOVERGEN | Q9NPI8. | ||||||||||||
| InParanoid | Q9NPI8. | ||||||||||||
| OMA | WARYLRH. | ||||||||||||
| OrthoDB | EOG9NW25X. | ||||||||||||
| PhylomeDB | Q9NPI8. | ||||||||||||
Enzyme and pathway databases | |||||||||||||
| Pathway_Interaction_DB | bard1pathway. BARD1 signaling events. | ||||||||||||
| Reactome | REACT_216. DNA Repair. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q9NPI8. | ||||||||||||
| Bgee | Q9NPI8. | ||||||||||||
| CleanEx | HS_FANCF. | ||||||||||||
| Genevestigator | Q9NPI8. | ||||||||||||
| GermOnline | ENSG00000183161. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| NextBio | 8843. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | FANCF_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NPI8 Secondary accession number(s): Q52LM0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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. | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| 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 |

Clusters with


