Version 5.4
Homo sapiens Protein: FANCI
Summary
InnateDB Protein IDBP-746934.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FANCI
Protein Name
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000458024
InnateDB Gene IDBG-29126 (FANCI)
Protein Structure
UniProt Annotation
Function Plays an essential role in the repair of DNA double- strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single- stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage. {ECO:0000269PubMed:17412408, ECO:0000269PubMed:17452773, ECO:0000269PubMed:17460694, ECO:0000269PubMed:19111657}.
Subcellular Localization Nucleus {ECO:0000269PubMed:17412408, ECO:0000269PubMed:17460694, ECO:0000269PubMed:19465922}. Note=Observed in spots localized in pairs on the sister chromatids of mitotic chromosome arms and not centromeres, one on each chromatids. These foci coincide with common fragile sites. They are frequently interlinked through BLM-associated ultra-fine DNA bridges.
Disease Associations Fanconi anemia complementation group I (FANCI) [MIM:609053]: 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:17452773}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 44 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 44 [view]
Protein-Protein 44 [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:0003677 DNA binding
GO:0005515 protein binding
GO:0070182 DNA polymerase binding
Biological Process
GO:0006281 DNA repair
GO:0007049 cell cycle
GO:0031398 positive regulation of protein ubiquitination
Cellular Component
GO:0005654 nucleoplasm
GO:0016020 membrane
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NVI1
PhosphoSite PhosphoSite-Q9NVI1
TrEMBL H3BT54
UniProt Splice Variant
Entrez Gene 55215
UniGene Hs.513126
RefSeq
HUGO HGNC:25568
OMIM 611360
CCDS
HPRD 13339
IMGT
EMBL AB058697 AC124068 AK001581 AK027564 BC004277 BC140769 EF469766 EF567077
GenPept AAH04277 AAI40770 ABP88002 ABQ63084 BAA91770 BAB47423 BAB55200

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