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Fanconi anemia group E protein; protein FANCE (FANCE)
Function:
- required for nuclear accumulation of FANCC
- role in bridge of FA complex with FANCD2
- component of FA complex
- interacts with FANCC & FANCD2
Compartment: nucleus
Pathology:
- defects in FANCE are a cause of Fanconi anemia
Related
Fanconi anemia
General
nuclear protein
phosphoprotein
protein subunit
Properties
SIZE: entity length = 536 aa
MW = 59 kD
COMPARTMENT: cell nucleus
MOTIF: FANCC interaction {150-371}
MOTIF: Ser phosphorylation site {S249}
Database Correlations
OMIM correlations
UniProt Q9HB96
Pfam PF11510
Entrez Gene 2178
Kegg hsa:2178
References
- UniProt :accession Q9HB96
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/FANCEID293.html
- Fanconi Anemia mutation Database
http://www.rockefeller.edu/fanconi/mutate/jumpe.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FANCE
- NIEHS-SNPs
http://egp.gs.washington.edu/data/fance/
Component-of
Fanconi anemia complementation group complex (FA complex)