Version 5.4
Homo sapiens Protein: FANCE
Summary
InnateDB Protein IDBP-84020.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FANCE
Protein Name Fanconi anemia, complementation group E
Synonyms FACE; FAE;
Species Homo sapiens
Ensembl Protein ENSP00000229769
InnateDB Gene IDBG-84018 (FANCE)
Protein Structure
UniProt Annotation
Function As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. {ECO:0000269PubMed:12093742, ECO:0000269PubMed:17296736}.
Subcellular Localization Nucleus {ECO:0000269PubMed:12093742, ECO:0000269PubMed:17296736}.
Disease Associations Fanconi anemia complementation group E (FANCE) [MIM:600901]: 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
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
Experimentally validated
Total 25 [view]
Protein-Protein 23 [view]
Protein-DNA 1 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
Biological Process
GO:0006281 DNA repair
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0043240 Fanconi anaemia nuclear complex
Protein Structure and Domains
PDB ID
InterPro IPR021025 Fanconi Anaemia group E protein, C-terminal
PFAM PF11510
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9HB96
PhosphoSite PhosphoSite-Q9HB96
TrEMBL
UniProt Splice Variant
Entrez Gene 2178
UniGene Hs.620020
RefSeq NP_068741
HUGO HGNC:3586
OMIM 613976
CCDS CCDS4805
HPRD 02943
IMGT
EMBL AF265210 AK292522 AL022721 BC046359 CH471081 DQ020173
GenPept AAG16743 AAH46359 AAY26395 BAF85211 CAD92504 EAX03830

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