FANCI

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]

FANCI
Identifiers
AliasesFANCI, KIAA1794, Fanconi anemia complementation group I, FA complementation group I
External IDsOMIM: 611360 MGI: 2384790 HomoloGene: 49530 GeneCards: FANCI
Gene location (Human)
Chr.Chromosome 15 (human)[1]
Band15q26.1Start89,243,949 bp[1]
End89,317,261 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

55215

208836

Ensembl

ENSG00000140525

ENSMUSG00000039187

UniProt

Q9NVI1

Q8K368

RefSeq (mRNA)

NM_001113378
NM_018193
NM_001376910
NM_001376911

NM_145946

RefSeq (protein)

NP_001106849
NP_060663
NP_001363839
NP_001363840

NP_666058

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

Function

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]


FANCI forms a heterodimer with FANCD2 protein. Both FANCD2 and FANCI are monoubiquitinated by the Fanconi anemia core complex subunit FANCL. FANCI monoubiquitination is essential for repairing DNA interstrand crosslinks, and clamps the protein on DNA together with its partner protein FANCD2. The monoubiquitinated FANCD2:FANCI complex coats DNA in a filament-like array, potentially as a way to protect DNA associated with stalled replication.[10]

References

  1. GRCh38: Ensembl release 89: ENSG00000140525 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000039187 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "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. Archived from the original on 2013-01-28.
  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.
  10. Tan, W; van Twest, S; Leis, A; Bythell-Douglas, R; Murphy, VJ; Sharp, M; Parker, MW; Crismani, W; Deans, AJ (13 March 2020). "Monoubiquitination by the human Fanconi anemia core complex clamps FANCI:FANCD2 on DNA in filamentous arrays". eLife. 9. doi:10.7554/eLife.54128. PMID 32167469.

Further reading

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


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