| Background: | The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. |
| UniProt Protein Function: | FANCE: 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. 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. |
| UniProt Protein Details: | Protein type:DNA repair, damage Chromosomal Location of Human Ortholog: 6p22-p21 Cellular Component: nucleoplasm; nucleus Disease: Fanconi Anemia, Complementation Group E; Tracheoesophageal Fistula With Or Without Esophageal Atresia |
| NCBI Summary: | The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q9HB96 |
| NCBI GenInfo Identifier: | 11345454 |
| NCBI Gene ID: | 2178 |
| NCBI Accession: | NP_068741.1 |
| UniProt Secondary Accession: | Q9HB96,Q4ZGH2, A8K907, |
| UniProt Related Accession: | Q9HB96 |
| Molecular Weight: | 58,711 Da |
| NCBI Full Name: | Fanconi anemia group E protein |
| NCBI Synonym Full Names: | Fanconi anemia complementation group E |
| NCBI Official Symbol: | FANCE |
| NCBI Official Synonym Symbols: | FAE; FACE |
| NCBI Protein Information: | Fanconi anemia group E protein |
| UniProt Protein Name: | Fanconi anemia group E protein |
| Protein Family: | Fanconi anemia group E protein |
| UniProt Gene Name: | FANCE |
| UniProt Entry Name: | FANCE_HUMAN |
