InnateDB Protein
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IDBP-36202.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FANCF
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Protein Name
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Fanconi anemia, complementation group F
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Synonyms
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FAF;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000330875
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InnateDB Gene
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IDBG-36200 (FANCF)
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Protein Structure
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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). {ECO:0000250}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:11063725, ECO:0000269PubMed:18550849}.
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Disease Associations |
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. {ECO:0000269PubMed:10615118}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
24
[view]
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Protein-Protein |
21
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NPI8
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PhosphoSite |
PhosphoSite-Q9NPI8
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TrEMBL |
A3KME0
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UniProt Splice Variant |
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Entrez Gene |
2188
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UniGene |
Hs.632151
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RefSeq |
NP_073562
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HUGO |
HGNC:3587
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OMIM |
613897
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CCDS |
CCDS7857
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HPRD |
04589
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IMGT |
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EMBL |
AF181994
AF181995
AK001716
AK023153
AY928335
BC047028
BC063038
BC093867
BC101807
CH471064
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GenPept |
AAF26297
AAF26298
AAH47028
AAH63038
AAH93867
AAI01808
AAX09677
BAB14433
BAG50967
EAW68319
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