FANCE

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Not to be confused with France.
Fanconi anemia, complementation group E
Protein FANCE PDB 2ilr.png
PDB rendering based on 2ilr.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols FANCE ; FACE; FAE
External IDs OMIM613976 MGI1920025 HomoloGene11066 GeneCards: FANCE Gene
RNA expression pattern
PBB GE FANCE 220255 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2178 72775
Ensembl ENSG00000112039 ENSMUSG00000007570
UniProt Q9HB96 n/a
RefSeq (mRNA) NM_021922 NM_001163819
RefSeq (protein) NP_068741 NP_001157291
Location (UCSC) Chr 6:
35.42 – 35.43 Mb
Chr 17:
28.31 – 28.33 Mb
PubMed search [1] [2]

Fanconi anemia group E protein is a protein that in humans is encoded by the FANCE gene.[1][2][3]

Function[edit]

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL. 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.[3]

Interactions[edit]

FANCE has been shown to interact with:

References[edit]

  1. ^ Joenje H, Lo ten Foe JR, Oostra AB, van Berkel CG, Rooimans MA, Schroeder-Kurth T, Wegner RD, Gille JJ, Buchwald M, Arwert F (Oct 1995). "Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype". Blood 86 (6): 2156–60. PMID 7662964. 
  2. ^ de Winter JP, Léveillé F, van Berkel CG, Rooimans MA, van Der Weel L, Steltenpool J, Demuth I, Morgan NV, Alon N, Bosnoyan-Collins L, Lightfoot J, Leegwater PA, Waisfisz Q, Komatsu K, Arwert F, Pronk JC, Mathew CG, Digweed M, Buchwald M, Joenje H (Nov 2000). "Isolation of a cDNA representing the Fanconi anemia complementation group E gene". Am J Hum Genet 67 (5): 1306–8. doi:10.1016/S0002-9297(07)62959-0. PMC 1288571. PMID 11001585. 
  3. ^ a b "Entrez Gene: FANCE Fanconi anemia, complementation group E". 
  4. ^ a b c Taniguchi T, D'Andrea AD (Oct 2002). "The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC". Blood 100 (7): 2457–62. doi:10.1182/blood-2002-03-0860. PMID 12239156. 
  5. ^ a b c Medhurst AL, Huber PA, Waisfisz Q, de Winter JP, Mathew CG (Feb 2001). "Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway". Hum. Mol. Genet. 10 (4): 423–9. PMID 11157805. 
  6. ^ a b c d e Pace P, Johnson M, Tan WM, Mosedale G, Sng C, Hoatlin M, de Winter J, Joenje H, Gergely F, Patel KJ (Jul 2002). "FANCE: the link between Fanconi anaemia complex assembly and activity". EMBO J. 21 (13): 3414–23. doi:10.1093/emboj/cdf355. PMC 125396. PMID 12093742. 
  7. ^ Meetei AR, de Winter JP, Medhurst AL, Wallisch M, Waisfisz Q, van de Vrugt HJ, Oostra AB, Yan Z, Ling C, Bishop CE, Hoatlin ME, Joenje H, Wang W (Oct 2003). "A novel ubiquitin ligase is deficient in Fanconi anemia". Nat. Genet. 35 (2): 165–70. doi:10.1038/ng1241. PMID 12973351. 
  8. ^ a b Gordon SM, Buchwald M (Jul 2003). "Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems". Blood 102 (1): 136–41. doi:10.1182/blood-2002-11-3517. PMID 12649160. 
  9. ^ Hussain S, Wilson JB, Medhurst AL, Hejna J, Witt E, Ananth S, Davies A, Masson JY, Moses R, West SC, de Winter JP, Ashworth A, Jones NJ, Mathew CG (Jun 2004). "Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways". Hum. Mol. Genet. 13 (12): 1241–8. doi:10.1093/hmg/ddh135. PMID 15115758. 
  10. ^ a b Léveillé F, Blom E, Medhurst AL, Bier P, Laghmani el H, Johnson M, Rooimans MA, Sobeck A, Waisfisz Q, Arwert F, Patel KJ, Hoatlin ME, Joenje H, de Winter JP (Sep 2004). "The Fanconi anemia gene product FANCF is a flexible adaptor protein". J. Biol. Chem. 279 (38): 39421–30. doi:10.1074/jbc.M407034200. PMID 15262960. 

Further reading[edit]