Open main menu

Fanconi anemia, complementation group I (FANCI) also known as KIAA1794, is a protein which in humans is encoded by the FANCI gene.[5][6][7][8] Mutations in the FANCI gene are known to cause Fanconi anemia.[9]

AliasesFANCI, KIAA1794, Fanconi anemia complementation group I, FA complementation group I
External IDsMGI: 2384790 HomoloGene: 49530 GeneCards: FANCI
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for FANCI
Genomic location for FANCI
Band15q26.1Start89,243,949 bp[1]
End89,317,261 bp[1]
RNA expression pattern
PBB GE KIAA1794 213008 at fs.png

PBB GE KIAA1794 213007 at fs.png
More reference expression data
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 15: 89.24 – 89.32 MbChr 7: 79.39 – 79.45 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse


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.[5]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000140525 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039187 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: FANCI".
  6. ^ 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.
  7. ^ 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.[permanent dead link]
  8. ^ 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.
  9. ^ 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 readingEdit

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