ID:FANCE_HUMAN DESCRIPTION: RecName: Full=Fanconi anemia group E protein; Short=Protein FACE; 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. SUBUNIT: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. Interacts with FANCC and FANCD2. INTERACTION: Q00597:FANCC; NbExp=3; IntAct=EBI-396803, EBI-81625; Q9BXW9:FANCD2; NbExp=4; IntAct=EBI-396803, EBI-359343; SUBCELLULAR LOCATION: Nucleus. PTM: Phosphorylated. Phosphorylation by CHEK1 at Thr-346 and Ser- 374 regulates its function in DNA cross-links repair. PTM: Ubiquitinated. Phosphorylation by CHEK1 induces polyubiquitination and degradation. DISEASE: Defects in FANCE are a cause of 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. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FANCEID293.html"; WEB RESOURCE: Name=Fanconi Anemia Mutation Database; URL="http://www.rockefeller.edu/fanconi/mutate/jumpe.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCE"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fance/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9HB96
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK292522 - Homo sapiens cDNA FLJ75805 complete cds, highly similar to Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA. BC046359 - Homo sapiens Fanconi anemia, complementation group E, mRNA (cDNA clone MGC:50663 IMAGE:6154799), complete cds. AF265210 - Homo sapiens fanconi anemia protein E (FANCE) mRNA, complete cds. JD479871 - Sequence 460895 from Patent EP1572962. AK312617 - Homo sapiens cDNA, FLJ92999. JD541166 - Sequence 522190 from Patent EP1572962. JD398314 - Sequence 379338 from Patent EP1572962. JD500276 - Sequence 481300 from Patent EP1572962. JD132975 - Sequence 113999 from Patent EP1572962. KJ896798 - Synthetic construct Homo sapiens clone ccsbBroadEn_06192 FANCE gene, encodes complete protein. AB527524 - Synthetic construct DNA, clone: pF1KB5926, Homo sapiens FANCE gene for Fanconi anemia, complementation group E, without stop codon, in Flexi system. JD108471 - Sequence 89495 from Patent EP1572962. JD299098 - Sequence 280122 from Patent EP1572962. JD541230 - Sequence 522254 from Patent EP1572962. JD213433 - Sequence 194457 from Patent EP1572962. JD119212 - Sequence 100236 from Patent EP1572962. JD252821 - Sequence 233845 from Patent EP1572962. JD277024 - Sequence 258048 from Patent EP1572962. JD566023 - Sequence 547047 from Patent EP1572962. JD325200 - Sequence 306224 from Patent EP1572962. JD254873 - Sequence 235897 from Patent EP1572962. JD421229 - Sequence 402253 from Patent EP1572962. JD337423 - Sequence 318447 from Patent EP1572962. JD233636 - Sequence 214660 from Patent EP1572962. JD563114 - Sequence 544138 from Patent EP1572962. JD506260 - Sequence 487284 from Patent EP1572962. JD374323 - Sequence 355347 from Patent EP1572962. JD115396 - Sequence 96420 from Patent EP1572962. JD093803 - Sequence 74827 from Patent EP1572962. JD373647 - Sequence 354671 from Patent EP1572962. JD172530 - Sequence 153554 from Patent EP1572962. JD475777 - Sequence 456801 from Patent EP1572962. JD354583 - Sequence 335607 from Patent EP1572962. JD271579 - Sequence 252603 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_bard1Pathway - BRCA1-dependent Ub-ligase activity h_atrbrcaPathway - Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility
Reactome (by CSHL, EBI, and GO)
Protein Q9HB96 (Reactome details) participates in the following event(s):
R-HSA-6785126 FA core complex assembles at DNA interstrand crosslinks (ICLs) R-HSA-6786155 POLN binds ICL-DNA R-HSA-6785342 FANCD2:FANCI complex and UBE2T bind ICL-DNA associated with the FA core complex R-HSA-6786171 FANCD2 deubiquitination by USP1:WDR48 R-HSA-6788385 The complex of ATR and ATRIP is recruited to ICL-DNA R-HSA-6785732 DNA nucleases bind monoubiquitinated ID2 complex R-HSA-6785361 Monoubiquitination of FANCD2:FANCI R-HSA-6788392 ATR phosphorylates RPA2, FANCI, FANCD2 and FANCM at ICL-DNA R-HSA-6783310 Fanconi Anemia Pathway R-HSA-73894 DNA Repair
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
