FANCI

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This article is about a human gene. For the military of Côte d'Ivoire, see National Armed Forces of Côte d'Ivoire.
Fanconi anemia, complementation group I
Identifiers
Symbols FANCI ; KIAA1794
External IDs OMIM611360 MGI2384790 HomoloGene49530 GeneCards: FANCI Gene
RNA expression pattern
PBB GE KIAA1794 213007 at tn.png
PBB GE KIAA1794 213008 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 55215 208836
Ensembl ENSG00000140525 ENSMUSG00000039187
UniProt Q9NVI1 Q8K368
RefSeq (mRNA) NM_001113378 NM_145946
RefSeq (protein) NP_001106849 NP_666058
Location (UCSC) Chr 15:
89.79 – 89.86 Mb
Chr 7:
79.39 – 79.45 Mb
PubMed search [1] [2]

Fanconi anemia, complementation group I (FANCI) also known as KIAA1794, is a protein which in humans is encoded by the FANCI gene.[1][2][3][4] Mutations in the FANCI gene are known to cause Fanconi anemia.[5]

Function[edit]

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.[1]

References[edit]

  1. ^ a b "Entrez Gene: FANCI". 
  2. ^ Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (April 2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906. 
  3. ^ Dorsman JC, Levitus M, Rockx D, Rooimans MA, Oostra AB, Haitjema A, Bakker ST, Steltenpool J, Schuler D, Mohan S, Schindler D, Arwert F, Pals G, Mathew CG, Waisfisz Q, de Winter JP, Joenje H (2007). "Identification of the Fanconi anemia complementation group I gene, FANCI". Cell. Oncol. 29 (3): 211–8. PMID 17452773. 
  4. ^ Sims AE, Spiteri E, Sims RJ, Arita AG, Lach FP, Landers T, Wurm M, Freund M, Neveling K, Hanenberg H, Auerbach AD, Huang TT (June 2007). "FANCI is a second monoubiquitinated member of the Fanconi anemia pathway". Nat. Struct. Mol. Biol. 14 (6): 564–7. doi:10.1038/nsmb1252. PMID 17460694. 
  5. ^ Levitus M, Rooimans MA, Steltenpool J, Cool NF, Oostra AB, Mathew CG, Hoatlin ME, Waisfisz Q, Arwert F, de Winter JP, Joenje H (April 2004). "Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes". Blood 103 (7): 2498–503. doi:10.1182/blood-2003-08-2915. PMID 14630800. 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.