Fanconi anemia group I protein

"FANCI" redirects here. For the military of Côte d'Ivoire, see National Armed Forces of Côte d'Ivoire.

FANCI
Identifiers
Aliases	FANCI, KIAA1794, Fanconi anemia complementation group I, FA complementation group I
External IDs	OMIM: 611360; MGI: 2384790; HomoloGene: 49530; GeneCards: FANCI; OMA:FANCI - orthologs
Gene location (Human) Chr. Chromosome 15 (human) Band 15q26.1 Start 89,243,945 bp End 89,317,261 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7|7 D2 Start 79,041,677 bp End 79,100,012 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone secondary oocyte testicle ganglionic eminence right testis left testis gonad bone marrow cell rectum trabecular bone Top expressed in otic vesicle otic placode spermatocyte saccule spermatid fetal liver hematopoietic progenitor cell primary oocyte secondary oocyte epiblast zygote More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein binding DNA polymerase binding Cellular component membrane nucleus nucleoplasm cytosol Biological process cell cycle mitotic G2 DNA damage checkpoint signaling positive regulation of protein ubiquitination interstrand cross-link repair cellular response to DNA damage stimulus DNA repair Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 7: 79.04 – 79.1 Mb PubMed search
Wikidata
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Fanconi anemia group I protein (FANCI) also known as KIAA1794, is a protein which in humans is encoded by the FANCI gene. Mutations in the FANCI gene are known to cause Fanconi anemia.

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.

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.

In addition to proteins involved in DNA repair, FANCI interacts with proteins localized to the nucleolus, the nuclear body where ribosome biogenesis initiates. FANCI functions in the processing of the pre-ribosomal RNA (pre-rRNA) for the large ribosomal subunit, the transcription of pre-rRNA by RNAPI, maintaining levels of the mature 28S ribosomal RNA (rRNA), and the global cellular translation of proteins by ribosomes. In the nucleolus, FANCI is predominantly in the deubiquitinated form and interacts with the large subunit of RNAPI and members of the PeBoW complex (PES1 and BOP1). There may be another role for FA proteins outside the nucleolus in ribosome biogenesis or protein translation as FANCI and FANCD2 are the only FA proteins associated with polysomes.

Meiosis

In mice, FANCI protein participates in meiotic recombination of germ cells, and deletion of the Fanci gene causes a strong meiotic phenotype and severe hypogonadism. Fanci-/- male mice have completely impaired spermatogenesis, and female Fanci-/- mice produce no ovarian follicles.

Further reading

• 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 Research. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
• Levitus M, Rooimans MA, Steltenpool J, Cool NF, Oostra AB, Mathew CG, et al. (April 2004). "Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes". Blood. 103 (7): 2498–2503. doi:10.1182/blood-2003-08-2915. PMID 14630800. S2CID 7033645.
• Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, et al. (February 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nature Cell Biology. 6 (2): 97–105. doi:10.1038/ncb1086. PMID 14743216. S2CID 11683986.
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, et al. (June 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–716. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
• Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (October 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology. 24 (10): 1285–1292. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
• Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1) 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
• Smogorzewska A, Matsuoka S, Vinciguerra P, McDonald ER, Hurov KE, Luo J, et al. (April 2007). "Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair". Cell. 129 (2): 289–301. doi:10.1016/j.cell.2007.03.009. PMC 2175179. PMID 17412408.
• Dorsman JC, Levitus M, Rockx D, Rooimans MA, Oostra AB, Haitjema A, et al. (2007). "Identification of the Fanconi anemia complementation group I gene, FANCI". Cellular Oncology. 29 (3): 211–218. doi:10.1155/2007/151968. PMC 4618213. PMID 17452773.
• Sims AE, Spiteri E, Sims RJ, Arita AG, Lach FP, Landers T, et al. (June 2007). "FANCI is a second monoubiquitinated member of the Fanconi anemia pathway". Nature Structural & Molecular Biology. 14 (6): 564–567. doi:10.1038/nsmb1252. PMID 17460694. S2CID 40947913.

External links

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