Version 5.4
Homo sapiens Protein: FANCC
Summary
InnateDB Protein IDBP-77043.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FANCC
Protein Name Fanconi anemia, complementation group C
Synonyms FA3; FAC; FACC;
Species Homo sapiens
Ensembl Protein ENSP00000364454
InnateDB Gene IDBG-77041 (FANCC)
Protein Structure
UniProt Annotation
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}.
Subcellular Localization Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.
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.
Tissue Specificity Ubiquitous.
Comments
Interactions
Number of Interactions 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]
Protein-Protein 54 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006281 DNA repair
GO:0006461 protein complex assembly
GO:0045087 innate immune response (InnateDB)
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0043240 Fanconi anaemia nuclear complex
Protein Structure and Domains
PDB ID
InterPro IPR000686 Fanconi anaemia group C protein
PFAM PF02106
PRINTS PR00494
PIRSF PIRSF018417
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q00597
PhosphoSite PhosphoSite-Q00597
TrEMBL B4E3W2
UniProt Splice Variant
Entrez Gene 2176
UniGene Hs.640256
RefSeq NP_001230672
HUGO HGNC:3584
OMIM 613899
CCDS CCDS35071
HPRD 01967
IMGT
EMBL AK304887 AL157384 AL354893 AY220878 BC015748 CH471174 L02651 L02652 L02653 L02654 L02655 L02656 L02657 L02658 L02659 L02660 L02661 L02662 L02663 L02664 X66893 X66894
GenPept AAA53104 AAH15748 AAO26042 BAG65624 CAA47347 CAA47348 CAH70886 CAI41329 EAW92626 EAW92627 EAW92628 EAW92629

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca