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FANCI

Fanconi anemia, complementation group I

On chromosome: 15q26.1
Known also as: FLJ10719; KIAA1794;

NCBI Gene ID:	55215
NCBI Ensembl Id:	ENSG00000140525
MIM Id: (from NCBI OMIM database)	611360
Species:	Homo sapiens

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 I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq]

Gene sequence:

[Download sequence]

Proteins coded by this gene:

FANCI (Homo sapiens)

Diseases related to this gene:

FANCONI ANEMIA (#227650 )

References:

Authors	Title	Journal
Ishiai M, Kitao H, Smogorzewska A, Tomida J, Kinomura A, Uchida E, Saberi A, Kinoshita E, Kinoshita-Kikuta E, Koike T, Tashiro S, Elledge SJ, Takata M	FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway.	Nat Struct Mol Biol Nov. 1, 2008
Longerich S, San Filippo J, Liu D, Sung P	FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL.	J Biol Chem Aug. 28, 2009
Yuan F, El Hokayem J, Zhou W, Zhang Y	FANCI protein binds to DNA and interacts with FANCD2 to recognize branched structures.	J Biol Chem Sept. 4, 2009
Garcia MJ, Fernandez V, Osorio A, Barroso A, Fernandez F, Urioste M, Benitez J	Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.	Carcinogenesis Nov. 1, 2009
Liu T, Ghosal G, Yuan J, Chen J, Huang J	FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.	Science Aug. 6, 2010

Last modification of this entry: Oct. 6, 2010.

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