InnateDB Protein
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IDBP-77045.6
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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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FANCC
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Protein Name
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Fanconi anemia, complementation group C
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Synonyms
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FA3; FAC; FACC;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000289081
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InnateDB Gene
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IDBG-77041 (FANCC)
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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. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1. {ECO:0000269PubMed:11520787}.
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Subcellular Localization |
Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.
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Disease Associations |
Fanconi anemia complementation group C (FANCC) [MIM:227645]: 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.
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Tissue Specificity |
Ubiquitous.
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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 54 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
54
[view]
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Protein-Protein |
54
[view]
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Protein-DNA |
0
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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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Predicted by orthology |
Total |
2 [view]
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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 |
IPR000686
Fanconi anaemia group C protein
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PFAM |
PF02106
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PRINTS |
PR00494
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PIRSF |
PIRSF018417
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q00597
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PhosphoSite |
PhosphoSite-Q00597
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TrEMBL |
B4E3W2
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UniProt Splice Variant |
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Entrez Gene |
2176
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UniGene |
Hs.640256
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RefSeq |
NP_000127
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HUGO |
HGNC:3584
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OMIM |
613899
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CCDS |
CCDS35071
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HPRD |
01967
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IMGT |
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EMBL |
AK304887
AL157384
AL354893
AY220878
BC015748
CH471174
L02651
L02652
L02653
L02654
L02655
L02656
L02657
L02658
L02659
L02660
L02661
L02662
L02663
L02664
X66893
X66894
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GenPept |
AAA53104
AAH15748
AAO26042
BAG65624
CAA47347
CAA47348
CAH70886
CAI41329
EAW92626
EAW92627
EAW92628
EAW92629
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