FANCE

FANCE
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	2ILR
Identifiers
Aliases	FANCE, FACE, FAE, Fanconi anemia complementation group E, FA complementation group E
External IDs	OMIM: 613976; MGI: 1920025; HomoloGene: 11066; GeneCards: FANCE; OMA:FANCE - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	35,467,104 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	28,545,546 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; oocyte; ; secondary oocyte; ; gonad; ; popliteal artery; ; tibial arteries; ; skin of abdomen; ; skin of leg; ; testicle; ; gastrocnemius muscle;
	Top expressed in
	neural layer of retina; ; lip; ; embryo; ; embryo; ; genital tubercle; ; tail of embryo; ; morula; ; ventricular zone; ; visual cortex; ; epiblast;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	molecular function; protein binding;
Cellular component	Fanconi anaemia nuclear complex; nucleus; nucleoplasm;
Biological process	interstrand cross-link repair; cellular response to DNA damage stimulus; DNA repair;
	Sources:Amigo / QuickGO
Orthologs
	2178
	72775
	ENSG00000112039
	ENSMUSG00000007570
	Q9HB96
	n/a
	NM_021922
	NM_001163819; NM_001163820; NM_028348
	NP_068741
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Fanconi anemia, complementation group E protein is a protein that in humans is encoded by the FANCE gene. 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 cross-linking 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 groufcrp E.

A nuclear complex containing FANCE protein (as well as FANCC, FANCF and FANCG) is essential for the activation of the FANCD2 protein to the mono-ubiquitinated isoform. In normal, non-mutant cells, FANCD2 is mono-ubiquinated in response to DNA damage. FANCE together with FANCC acts as the substrate adapter for this reaction Activated FANCD2 protein co-localizes with BRCA1 (breast cancer susceptibility protein) at ionizing radiation-induced foci and in synaptonemal complexes of meiotic chromosomes. Activated FANCD2 protein may function prior to the initiation of meiotic recombination, perhaps to prepare chromosomes for synapses, or to regulate subsequent recombination events.