FANCI: Difference between revisions

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{{About|a human gene|the military of Côte d'Ivoire|National Armed Forces of Côte d'Ivoire}}
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{{Infobox_gene}}
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'''Fanconi anemia, complementation group I''' ('''FANCI''') also known as '''KIAA1794''', is a [[protein]] which in humans is encoded by the ''FANCI'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: FANCI | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55215| accessdate = }}</ref><ref name="pmid11347906">{{cite journal | vauthors = Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O | title = 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 | journal = DNA Res. | volume = 8 | issue = 2 | pages = 85–95 |date=April 2001 | pmid = 11347906 | doi = 10.1093/dnares/8.2.85 }}</ref><ref name="pmid17452773">{{cite journal|vauthors=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 |title=Identification of the Fanconi anemia complementation group I gene, FANCI |journal=Cell. Oncol. |volume=29 |issue=3 |pages=211–8 |year=2007 |pmid=17452773 |doi= |url=http://iospress.metapress.com/openurl.asp?genre=article&issn=1570-5870&volume=29&issue=3&spage=211 |issn= }}{{dead link|date=December 2016 |bot=InternetArchiveBot |fix-attempted=yes }}</ref><ref name="pmid17460694">{{cite journal | vauthors = Sims AE, Spiteri E, Sims RJ, Arita AG, Lach FP, Landers T, Wurm M, Freund M, Neveling K, Hanenberg H, Auerbach AD, Huang TT | title = FANCI is a second monoubiquitinated member of the Fanconi anemia pathway | journal = Nat. Struct. Mol. Biol. | volume = 14 | issue = 6 | pages = 564–7 |date=June 2007 | pmid = 17460694 | doi = 10.1038/nsmb1252 | url =  }}</ref> Mutations in the ''FANCI'' gene are known to cause [[Fanconi anemia]].<ref name="pmid14630800">{{cite journal | vauthors = Levitus M, Rooimans MA, Steltenpool J, Cool NF, Oostra AB, Mathew CG, Hoatlin ME, Waisfisz Q, Arwert F, de Winter JP, Joenje H | title = Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes | journal = Blood | volume = 103 | issue = 7 | pages = 2498–503 |date=April 2004 | pmid = 14630800 | doi = 10.1182/blood-2003-08-2915 | url = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = KIAA1794
| HGNCid = 25568
| Symbol = KIAA1794
| AltSymbols =; FLJ10719
| OMIM = 
| ECnumber = 
| Homologene = 49530
| MGIid = 2384790
| GeneAtlas_image1 = PBB_GE_KIAA1794_213007_at_tn.png
| GeneAtlas_image2 = PBB_GE_KIAA1794_213008_at_tn.png
| Function =  
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process =
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 55215
    | Hs_Ensembl = ENSG00000140525
    | Hs_RefseqProtein = NP_060663
    | Hs_RefseqmRNA = NM_018193
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 15
    | Hs_GenLoc_start = 87588198
    | Hs_GenLoc_end = 87661366
    | Hs_Uniprot = Q9NVI1
    | Mm_EntrezGene = 208836
    | Mm_Ensembl = ENSMUSG00000039187
    | Mm_RefseqmRNA = NM_145946
    | Mm_RefseqProtein = NP_666058
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 7
    | Mm_GenLoc_start = 79265866
    | Mm_GenLoc_end = 79323777
    | Mm_Uniprot = 
  }}
}}
'''KIAA1794''', also known as '''KIAA1794''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: KIAA1794 KIAA1794| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55215| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez"/>
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==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Nagase T, Nakayama M, Nakajima D, ''et al.'' |title=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. |journal=DNA Res. |volume=8 |issue= 2 |pages= 85-95 |year= 2001 |pmid= 11347906 |doi=  }}
*{{cite journal  | vauthors=Nagase T, Nakayama M, Nakajima D |title=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. |journal=DNA Res. |volume=8 |issue= 2 |pages= 85–95 |year= 2001 |pmid= 11347906 |doi=10.1093/dnares/8.2.85 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Levitus M, Rooimans MA, Steltenpool J, ''et al.'' |title=Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes. |journal=Blood |volume=103 |issue= 7 |pages= 2498-503 |year= 2004 |pmid= 14630800 |doi= 10.1182/blood-2003-08-2915 }}
*{{cite journal  | vauthors=Levitus M, Rooimans MA, Steltenpool J |title=Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes. |journal=Blood |volume=103 |issue= 7 |pages= 2498–503 |year= 2004 |pmid= 14630800 |doi= 10.1182/blood-2003-08-2915 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Bouwmeester T, Bauch A, Ruffner H, ''et al.'' |title=A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway. |journal=Nat. Cell Biol. |volume=6 |issue= 2 |pages= 97-105 |year= 2004 |pmid= 14743216 |doi= 10.1038/ncb1086 }}
*{{cite journal  | vauthors=Bouwmeester T, Bauch A, Ruffner H |title=A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway. |journal=Nat. Cell Biol. |volume=6 |issue= 2 |pages= 97–105 |year= 2004 |pmid= 14743216 |doi= 10.1038/ncb1086 |display-authors=etal}}
*{{cite journal  | author=Brandenberger R, Wei H, Zhang S, ''et al.'' |title=Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. |journal=Nat. Biotechnol. |volume=22 |issue= 6 |pages= 707-16 |year= 2005 |pmid= 15146197 |doi= 10.1038/nbt971 }}
*{{cite journal  | vauthors=Brandenberger R, Wei H, Zhang S |title=Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. |journal=Nat. Biotechnol. |volume=22 |issue= 6 |pages= 707–16 |year= 2005 |pmid= 15146197 |doi= 10.1038/nbt971 |display-authors=etal}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Beausoleil SA, Villén J, Gerber SA, ''et al.'' |title=A probability-based approach for high-throughput protein phosphorylation analysis and site localization. |journal=Nat. Biotechnol. |volume=24 |issue= 10 |pages= 1285-92 |year= 2006 |pmid= 16964243 |doi= 10.1038/nbt1240 }}
*{{cite journal  | vauthors=Beausoleil SA, Villén J, Gerber SA |title=A probability-based approach for high-throughput protein phosphorylation analysis and site localization. |journal=Nat. Biotechnol. |volume=24 |issue= 10 |pages= 1285–92 |year= 2006 |pmid= 16964243 |doi= 10.1038/nbt1240 |display-authors=etal}}
*{{cite journal  | author=Ewing RM, Chu P, Elisma F, ''et al.'' |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue=  |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 }}
*{{cite journal  | vauthors=Ewing RM, Chu P, Elisma F |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue=  1|pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 | pmc=1847948 |display-authors=etal}}
*{{cite journal  | author=Smogorzewska A, Matsuoka S, Vinciguerra P, ''et al.'' |title=Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. |journal=Cell |volume=129 |issue= 2 |pages= 289-301 |year= 2007 |pmid= 17412408 |doi= 10.1016/j.cell.2007.03.009 }}
*{{cite journal  | vauthors=Smogorzewska A, Matsuoka S, Vinciguerra P |title=Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. |journal=Cell |volume=129 |issue= 2 |pages= 289–301 |year= 2007 |pmid= 17412408 |doi= 10.1016/j.cell.2007.03.009 | pmc=2175179 |display-authors=etal}}
*{{cite journal  | author=Dorsman JC, Levitus M, Rockx D, ''et al.'' |title=Identification of the Fanconi anemia complementation group I gene, FANCI. |journal=Cell. Oncol. |volume=29 |issue= 3 |pages= 211-8 |year= 2007 |pmid= 17452773 |doi=  }}
*{{cite journal  | vauthors=Dorsman JC, Levitus M, Rockx D |title=Identification of the Fanconi anemia complementation group I gene, FANCI. |journal=Cell. Oncol. |volume=29 |issue= 3 |pages= 211–8 |year= 2007 |pmid= 17452773 |doi=  |display-authors=etal}}
*{{cite journal  | author=Sims AE, Spiteri E, Sims RJ, ''et al.'' |title=FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. |journal=Nat. Struct. Mol. Biol. |volume=14 |issue= 6 |pages= 564-7 |year=  |pmid= 17460694 |doi= 10.1038/nsmb1252 }}
*{{cite journal  | vauthors=Sims AE, Spiteri E, Sims RJ |title=FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. |journal=Nat. Struct. Mol. Biol. |volume=14 |issue= 6 |pages= 564–7 |year=  2007|pmid= 17460694 |doi= 10.1038/nsmb1252 |display-authors=etal}}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 04:38, 31 August 2017

This article is about a human gene. For the military of Côte d'Ivoire, see National Armed Forces of Côte d'Ivoire.
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

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

  1. ↑ 1.0 1.1 "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.[permanent dead link]
  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

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



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