Fanconi anemia, complementation group C: Difference between revisions

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{{Infobox_gene}}
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'''Fanconi anemia group C protein''' is a [[protein]] that in humans is encoded by the ''FANCC'' [[gene]].<ref name="pmid1303234">{{cite journal | vauthors = Strathdee CA, Duncan AM, Buchwald M | title = Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9 | journal = Nature Genetics | volume = 1 | issue = 3 | pages = 196–8 | date = Jun 1992 | pmid = 1303234 | pmc =  | doi = 10.1038/ng0692-196 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: FANCC Fanconi anemia, complementation group C| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2176| accessdate = }}</ref>
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== Structure ==
| update_protein_box = yes
 
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{{Infobox protein family
| update_citations = yes
| align = left
| Symbol = Fanconi_C
| Name = Fanconi anaemia group C protein
| image =
| width =
| caption =
| Pfam = PF02106
| Pfam_clan = 
| InterPro = IPR000686
| SMART =
| PROSITE =
| MEROPS =
| SCOP =
| TCDB =  
| OPM family =  
| OPM protein =  
| CAZy =  
| CDD =  
}}
}}
{{clear|left}}
== Function ==
The protein encoded by this gene delays the onset of [[apoptosis]] and promotes [[homologous recombination]] repair of damaged DNA. Mutations in this gene result in Fanconi anemia.<ref name="entrez" />
A [[Cell nucleus|nuclear]] complex containing FANCC protein (as well as [[FANCA]], [[FANCF]] and [[FANCG]]) is essential for the activation of the [[FANCD2]] protein to the [[Ubiquitin|mono-ubiquitinated]] isoform.<ref name=Garcia-Higuera>{{cite journal |vauthors=Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna J, Grompe M, D'Andrea AD |title=Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway |journal=Mol. Cell |volume=7 |issue=2 |pages=249–62 |year=2001 |pmid=11239454 |doi= 10.1016/s1097-2765(01)00173-3|url=}}</ref>  In normal, non-mutant, cells FANCD2 is mono-ubiquinated in response to DNA damage.  Activated FANCD2 protein co-localizes with [[BRCA1]] (breast cancer susceptibility protein) at [[ionizing radiation]]-induced foci and in [[synaptonemal complex]]es of [[meiosis|meiotic]] chromosomes.  Activated FANCD2 protein may function prior to the initiation of meiotic recombination, perhaps to prepare chromosomes for synapsis, or to regulate subsequent recombination events.<ref name=Garcia-Higuera />
FANCC(-/-) mutant male and female mice have compromised [[gametogenesis]], leading to markedly impaired [[fertility]], a characteristic of [[Fanconi anemia]] patients.<ref name="pmid8630504">{{cite journal |vauthors=Chen M, Tomkins DJ, Auerbach W, McKerlie C, Youssoufian H, Liu L, Gan O, Carreau M, Auerbach A, Groves T, Guidos CJ, Freedman MH, Cross J, Percy DH, Dick JE, Joyner AL, Buchwald M |title=Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia |journal=Nat. Genet. |volume=12 |issue=4 |pages=448–51 |year=1996 |pmid=8630504 |doi=10.1038/ng0496-448 |url=}}</ref>  Both male and female FANCC mutant mice have reduced numbers of [[germ cell]]s.<ref name="pmid8704201">{{cite journal |vauthors=Whitney MA, Royle G, Low MJ, Kelly MA, Axthelm MK, Reifsteck C, Olson S, Braun RE, Heinrich MC, Rathbun RK, Bagby GC, Grompe M |title=Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene |journal=Blood |volume=88 |issue=1 |pages=49–58 |year=1996 |pmid=8704201 |doi= |url=}}</ref>


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== Interactions ==
{{GNF_Protein_box
 
| image =
Fanconi anemia, complementation group C has been shown to [[Protein-protein interaction|interact]] with:
| image_source =   
{{div col|colwidth=20em}}
| PDB =  
* [[Cdk1]],<ref name = pmid14499622/><ref name = pmid9242535>{{cite journal | vauthors = Kupfer GM, Yamashita T, Naf D, Suliman A, Asano S, D'Andrea AD | title = The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2 | journal = Blood | volume = 90 | issue = 3 | pages = 1047–54 | date = Aug 1997 | pmid = 9242535 | doi =  }}</ref>
| Name = Fanconi anemia, complementation group C
* [[FANCA]],<ref name = pmid10551855/><ref name = pmid11063725/><ref name = pmid10373536>{{cite journal | vauthors = Garcia-Higuera I, Kuang Y, Näf D, Wasik J, D'Andrea AD | title = Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex | journal = Molecular and Cellular Biology | volume = 19 | issue = 7 | pages = 4866–73 | date = Jul 1999 | pmid = 10373536 | pmc = 84285 | doi = 10.1128/mcb.19.7.4866}}</ref><ref name = pmid10627486>{{cite journal | vauthors = Reuter T, Herterich S, Bernhard O, Hoehn H, Gross HJ | title = Strong FANCA/FANCG but weak FANCA/FANCC interaction in the yeast 2-hybrid system | journal = Blood | volume = 95 | issue = 2 | pages = 719–20 | date = Jan 2000 | pmid = 10627486 | doi =  }}</ref><ref name = pmid15082718>{{cite journal | vauthors = Thomashevski A, High AA, Drozd M, Shabanowitz J, Hunt DF, Grant PA, Kupfer GM | title = The Fanconi anemia core complex forms four complexes of different sizes in different subcellular compartments | journal = The Journal of Biological Chemistry | volume = 279 | issue = 25 | pages = 26201–9 | date = Jun 2004 | pmid = 15082718 | doi = 10.1074/jbc.M400091200 }}</ref><ref name = pmid12973351>{{cite journal | vauthors = Meetei AR, de Winter JP, Medhurst AL, Wallisch M, Waisfisz Q, van de Vrugt HJ, Oostra AB, Yan Z, Ling C, Bishop CE, Hoatlin ME, Joenje H, Wang W | title = A novel ubiquitin ligase is deficient in Fanconi anemia | journal = Nature Genetics | volume = 35 | issue = 2 | pages = 165–70 | date = Oct 2003 | pmid = 12973351 | doi = 10.1038/ng1241 }}</ref><ref name = pmid12239156>{{cite journal | vauthors = Taniguchi T, D'Andrea AD | title = The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC | journal = Blood | volume = 100 | issue = 7 | pages = 2457–62 | date = Oct 2002 | pmid = 12239156 | doi = 10.1182/blood-2002-03-0860 }}</ref><ref name = pmid12210728>{{cite journal | vauthors = Otsuki T, Young DB, Sasaki DT, Pando MP, Li J, Manning A, Hoekstra M, Hoatlin ME, Mercurio F, Liu JM | title = Fanconi anemia protein complex is a novel target of the IKK signalsome | journal = Journal of Cellular Biochemistry | volume = 86 | issue = 4 | pages = 613–23 | pmid = 12210728 | doi = 10.1002/jcb.10270 }}</ref>
  | HGNCid = 3584
* [[FANCE]],<ref name = pmid12239156/><ref name = pmid15262960/><ref name = pmid12649160>{{cite journal | vauthors = Gordon SM, Buchwald M | title = Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems | journal = Blood | volume = 102 | issue = 1 | pages = 136–41 | date = Jul 2003 | pmid = 12649160 | doi = 10.1182/blood-2002-11-3517 }}</ref><ref name = pmid11157805>{{cite journal | vauthors = Medhurst AL, Huber PA, Waisfisz Q, de Winter JP, Mathew CG | title = Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway | journal = Human Molecular Genetics | volume = 10 | issue = 4 | pages = 423–9 | date = Feb 2001 | pmid = 11157805 | doi = 10.1093/hmg/10.4.423}}</ref><ref name = pmid12093742>{{cite journal | vauthors = Pace P, Johnson M, Tan WM, Mosedale G, Sng C, Hoatlin M, de Winter J, Joenje H, Gergely F, Patel KJ | title = FANCE: the link between Fanconi anaemia complex assembly and activity | journal = The EMBO Journal | volume = 21 | issue = 13 | pages = 3414–23 | date = Jul 2002 | pmid = 12093742 | pmc = 125396 | doi = 10.1093/emboj/cdf355 }}</ref>
| Symbol = FANCC
* [[FANCF]],<ref name = pmid11063725>{{cite journal | vauthors = de Winter JP, van der Weel L, de Groot J, Stone S, Waisfisz Q, Arwert F, Scheper RJ, Kruyt FA, Hoatlin ME, Joenje H | title = The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG | journal = Human Molecular Genetics | volume = 9 | issue = 18 | pages = 2665–74 | date = Nov 2000 | pmid = 11063725 | doi = 10.1093/hmg/9.18.2665}}</ref><ref name = pmid15262960>{{cite journal | vauthors = Léveillé F, Blom E, Medhurst AL, Bier P, Laghmani el H, Johnson M, Rooimans MA, Sobeck A, Waisfisz Q, Arwert F, Patel KJ, Hoatlin ME, Joenje H, de Winter JP | title = The Fanconi anemia gene product FANCF is a flexible adaptor protein | journal = The Journal of Biological Chemistry | volume = 279 | issue = 38 | pages = 39421–30 | date = Sep 2004 | pmid = 15262960 | doi = 10.1074/jbc.M407034200 }}</ref>
| AltSymbols =; FA3; FAC; FACC; FLJ14675
* [[GSTP1]],<ref name = pmid14499622/><ref name = pmid11433346>{{cite journal | vauthors = Cumming RC, Lightfoot J, Beard K, Youssoufian H, O'Brien PJ, Buchwald M | title = Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1 | journal = Nature Medicine | volume = 7 | issue = 7 | pages = 814–20 | date = Jul 2001 | pmid = 11433346 | doi = 10.1038/89937 }}</ref>
| OMIM = 227645
* [[HSPA1A]],<ref name = pmid14499622/><ref name = pmid12397061>{{cite journal | vauthors = Pang Q, Christianson TA, Keeble W, Koretsky T, Bagby GC | title = The anti-apoptotic function of Hsp70 in the interferon-inducible double-stranded RNA-dependent protein kinase-mediated death signaling pathway requires the Fanconi anemia protein, FANCC | journal = The Journal of Biological Chemistry | volume = 277 | issue = 51 | pages = 49638–43 | date = Dec 2002 | pmid = 12397061 | doi = 10.1074/jbc.M209386200 }}</ref>
| ECnumber =
* [[SPTAN1]],<ref name = pmid10551855>{{cite journal | vauthors = McMahon LW, Walsh CE, Lambert MW | title = Human alpha spectrin II and the Fanconi anemia proteins FANCA and FANCC interact to form a nuclear complex | journal = The Journal of Biological Chemistry | volume = 274 | issue = 46 | pages = 32904–8 | date = Nov 1999 | pmid = 10551855 | doi =  10.1074/jbc.274.46.32904}}</ref><ref name = pmid11401546>{{cite journal | vauthors = McMahon LW, Sangerman J, Goodman SR, Kumaresan K, Lambert MW | title = Human alpha spectrin II and the FANCA, FANCC, and FANCG proteins bind to DNA containing psoralen interstrand cross-links | journal = Biochemistry | volume = 40 | issue = 24 | pages = 7025–34 | date = Jun 2001 | pmid = 11401546 | doi =  10.1021/bi002917g}}</ref>
| Homologene = 109
* [[STAT1]],<ref name = pmid14499622>{{cite journal | vauthors = Reuter TY, Medhurst AL, Waisfisz Q, Zhi Y, Herterich S, Hoehn H, Gross HJ, Joenje H, Hoatlin ME, Mathew CG, Huber PA | title = Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport | journal = Experimental Cell Research | volume = 289 | issue = 2 | pages = 211–21 | date = Oct 2003 | pmid = 14499622 | doi =  10.1016/s0014-4827(03)00261-1}}</ref><ref name = pmid10848598>{{cite journal | vauthors = Pang Q, Fagerlie S, Christianson TA, Keeble W, Faulkner G, Diaz J, Rathbun RK, Bagby GC | title = The Fanconi anemia protein FANCC binds to and facilitates the activation of STAT1 by gamma interferon and hematopoietic growth factors | journal = Molecular and Cellular Biology | volume = 20 | issue = 13 | pages = 4724–35 | date = Jul 2000 | pmid = 10848598 | pmc = 85895 | doi =  10.1128/mcb.20.13.4724-4735.2000}}</ref><ref name = pmid11520787>{{cite journal | vauthors = Pang Q, Christianson TA, Keeble W, Diaz J, Faulkner GR, Reifsteck C, Olson S, Bagby GC | title = The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality | journal = Blood | volume = 98 | issue = 5 | pages = 1392–401 | date = Sep 2001 | pmid = 11520787 | doi =  10.1182/blood.v98.5.1392}}</ref>  and
| MGIid = 95480
* [[ZBTB32]].<ref name = pmid14499622/><ref name = pmid10572087>{{cite journal | vauthors = Hoatlin ME, Zhi Y, Ball H, Silvey K, Melnick A, Stone S, Arai S, Hawe N, Owen G, Zelent A, Licht JD | title = A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF | journal = Blood | volume = 94 | issue = 11 | pages = 3737–47 | date = Dec 1999 | pmid = 10572087 | doi = }}</ref>  
| GeneAtlas_image1 = PBB_GE_FANCC_205189_s_at_tn.png
{{Div col end}}
  | Function = {{GNF_GO|id=GO:0005515 |text = protein binding}}  
{{Clear}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005829 |text = cytosol}}  
| Process = {{GNF_GO|id=GO:0006281 |text = DNA repair}} {{GNF_GO|id=GO:0006289 |text = nucleotide-excision repair}} {{GNF_GO|id=GO:0006461 |text = protein complex assembly}} {{GNF_GO|id=GO:0007281 |text = germ cell development}}  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2176
    | Hs_Ensembl = ENSG00000158169
    | Hs_RefseqProtein = NP_000127
    | Hs_RefseqmRNA = NM_000136
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = 9
    | Hs_GenLoc_start = 96901158
    | Hs_GenLoc_end = 97119812
    | Hs_Uniprot = Q00597
    | Mm_EntrezGene = 14088
    | Mm_Ensembl = ENSMUSG00000021461
    | Mm_RefseqmRNA = NM_001042673
    | Mm_RefseqProtein = NP_001036138
    | Mm_GenLoc_db =
    | Mm_GenLoc_chr = 13
    | Mm_GenLoc_start = 63313931
    | Mm_GenLoc_end = 63440720
    | Mm_Uniprot = P50652
  }}
}}
'''Fanconi anemia, complementation group C''', also known as '''FANCC''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: FANCC Fanconi anemia, complementation group C| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2176| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== References ==
{{PBB_Summary
{{reflist|33em}}
| section_title =  
| summary_text = The protein encoded by this gene delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. Mutations in this gene result in Fanconi anemia.<ref name="entrez">{{cite web | title = Entrez Gene: FANCC Fanconi anemia, complementation group C| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2176| accessdate = }}</ref>
}}


==References==
== Further reading ==
{{reflist|2}}
{{refbegin|33em}}
==Further reading==
* {{cite journal | vauthors = Strathdee CA, Gavish H, Shannon WR, Buchwald M | title = Cloning of cDNAs for Fanconi's anaemia by functional complementation | journal = Nature | volume = 356 | issue = 6372 | pages = 763–7  | date = Apr 1992 | pmid = 1574115 | doi = 10.1038/356763a0 }}
{{refbegin | 2}}
* {{cite journal | vauthors = Strathdee CA, Gavish H, Shannon WR, Buchwald M | title = Cloning of cDNAs for Fanconi's anaemia by functional complementation | journal = Nature | volume = 358 | issue = 6385 | pages = 434  | date = Jul 1992 | pmid = 1641028 | doi = 10.1038/358434a0 }}
{{PBB_Further_reading
* {{cite journal | vauthors = Verlander PC, Kaporis A, Liu Q, Zhang Q, Seligsohn U, Auerbach AD | title = Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population | journal = Blood | volume = 86 | issue = 11 | pages = 4034–8 | year = 1996 | date = Dec 1995 | pmid = 7492758 | doi = }}
| citations =
* {{cite journal | vauthors = Yamashita T, Barber DL, Zhu Y, Wu N, D'Andrea AD | title = The Fanconi anemia polypeptide FACC is localized to the cytoplasm | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 91 | issue = 14 | pages = 6712–6  | date = Jul 1994 | pmid = 7517562 | pmc = 44273 | doi = 10.1073/pnas.91.14.6712 }}
*{{cite journal | author=Strathdee CA, Duncan AM, Buchwald M |title=Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. |journal=Nat. Genet. |volume=1 |issue= 3 |pages= 196-8 |year= 1993 |pmid= 1303234 |doi= 10.1038/ng0692-196 }}
* {{cite journal | vauthors = Segal GM, Magenis RE, Brown M, Keeble W, Smith TD, Heinrich MC, Bagby GC | title = Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells | journal = The Journal of Clinical Investigation | volume = 94 | issue = 2 | pages = 846–52  | date = Aug 1994 | pmid = 7518843 | pmc = 296166 | doi = 10.1172/JCI117405 }}
*{{cite journal | author=Strathdee CA, Gavish H, Shannon WR, Buchwald M |title=Cloning of cDNAs for Fanconi's anaemia by functional complementation. |journal=Nature |volume=356 |issue= 6372 |pages= 763-7 |year= 1992 |pmid= 1574115 |doi= 10.1038/356763a0 }}
* {{cite journal | vauthors = Youssoufian H | title = Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 91 | issue = 17 | pages = 7975–9  | date = Aug 1994 | pmid = 8058745 | pmc = 44527 | doi = 10.1073/pnas.91.17.7975 }}
*{{cite journal | author=Strathdee CA, Gavish H, Shannon WR, Buchwald M |title=Cloning of cDNAs for Fanconi's anaemia by functional complementation. |journal=Nature |volume=358 |issue= 6385 |pages= 434 |year= 1992 |pmid= 1641028 |doi= 10.1038/358434a0 }}
* {{cite journal | vauthors = Whitney MA, Jakobs P, Kaback M, Moses RE, Grompe M | title = The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population | journal = Human Mutation | volume = 3 | issue = 4 | pages = 339–41 | year = 1994 | pmid = 8081385 | doi = 10.1002/humu.1380030402 }}
*{{cite journal | author=Verlander PC, Kaporis A, Liu Q, ''et al.'' |title=Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. |journal=Blood |volume=86 |issue= 11 |pages= 4034-8 |year= 1996 |pmid= 7492758 |doi= }}
* {{cite journal | vauthors = Murer-Orlando M, Llerena JC, Birjandi F, Gibson RA, Mathew CG | title = FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia | journal = Lancet | volume = 342 | issue = 8872 | pages = 686  | date = Sep 1993 | pmid = 8103176 | doi = 10.1016/0140-6736(93)91800-2 }}
*{{cite journal | author=Yamashita T, Barber DL, Zhu Y, ''et al.'' |title=The Fanconi anemia polypeptide FACC is localized to the cytoplasm. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 14 |pages= 6712-6 |year= 1994 |pmid= 7517562 |doi= }}
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1-2 | pages = 171–4  | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
*{{cite journal | author=Segal GM, Magenis RE, Brown M, ''et al.'' |title=Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells. |journal=J. Clin. Invest. |volume=94 |issue= 2 |pages= 846-52 |year= 1994 |pmid= 7518843 |doi= }}
* {{cite journal | vauthors = Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Mathew CG, Auerbach AD | title = Mutation analysis of the Fanconi anemia gene FACC | journal = American Journal of Human Genetics | volume = 54 | issue = 4 | pages = 595–601  | date = Apr 1994 | pmid = 8128956 | pmc = 1918103 | doi =  }}
*{{cite journal | author=Youssoufian H |title=Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 17 |pages= 7975-9 |year= 1994 |pmid= 8058745 |doi= }}
* {{cite journal | vauthors = Whitney MA, Saito H, Jakobs PM, Gibson RA, Moses RE, Grompe M | title = A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews | journal = Nature Genetics | volume = 4 | issue = 2 | pages = 202–5  | date = Jun 1993 | pmid = 8348157 | doi = 10.1038/ng0693-202 }}
*{{cite journal | author=Whitney MA, Jakobs P, Kaback M, ''et al.'' |title=The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population. |journal=Hum. Mutat. |volume=3 |issue= 4 |pages= 339-41 |year= 1994 |pmid= 8081385 |doi= 10.1002/humu.1380030402 }}
* {{cite journal | vauthors = Gibson RA, Buchwald M, Roberts RG, Mathew CG | title = Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR | journal = Human Molecular Genetics | volume = 2 | issue = 1 | pages = 35–8  | date = Jan 1993 | pmid = 8490620 | doi = 10.1093/hmg/2.1.35 }}
*{{cite journal | author=Murer-Orlando M, Llerena JC, Birjandi F, ''et al.'' |title=FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. |journal=Lancet |volume=342 |issue= 8872 |pages= 686 |year= 1993 |pmid= 8103176 |doi= }}
* {{cite journal | vauthors = Gavish H, dos Santos CC, Buchwald M | title = A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein | journal = Human Molecular Genetics | volume = 2 | issue = 2 | pages = 123–6  | date = Feb 1993 | pmid = 8499901 | doi = 10.1093/hmg/2.2.123 }}
*{{cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi=  }}
* {{cite journal | vauthors = Youssoufian H, Li Y, Martin ME, Buchwald M | title = Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele | journal = The Journal of Clinical Investigation | volume = 97 | issue = 4 | pages = 957–62  | date = Feb 1996 | pmid = 8613549 | pmc = 507141 | doi = 10.1172/JCI118519 }}
*{{cite journal | author=Verlander PC, Lin JD, Udono MU, ''et al.'' |title=Mutation analysis of the Fanconi anemia gene FACC. |journal=Am. J. Hum. Genet. |volume=54 |issue= 4 |pages= 595-601 |year= 1994 |pmid= 8128956 |doi= }}
* {{cite journal | vauthors = Yamashita T, Wu N, Kupfer G, Corless C, Joenje H, Grompe M, D'Andrea AD | title = Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity | journal = Blood | volume = 87 | issue = 10 | pages = 4424–32  | date = May 1996 | pmid = 8639804 | doi =  }}
*{{cite journal | author=Whitney MA, Saito H, Jakobs PM, ''et al.'' |title=A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. |journal=Nat. Genet. |volume=4 |issue= 2 |pages= 202-5 |year= 1993 |pmid= 8348157 |doi= 10.1038/ng0693-202 }}
* {{cite journal | vauthors = Lo Ten Foe JR, Rooimans MA, Joenje H, Arwert F | title = Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC | journal = Human Mutation | volume = 7 | issue = 3 | pages = 264–5 | year = 1996 | pmid = 8829660 | doi = 10.1002/(SICI)1098-1004(1996)7:3<264::AID-HUMU11>3.0.CO;2-0 }}
*{{cite journal | author=Gibson RA, Buchwald M, Roberts RG, Mathew CG |title=Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. |journal=Hum. Mol. Genet. |volume=2 |issue= 1 |pages= 35-8 |year= 1993 |pmid= 8490620 |doi= }}
* {{cite journal | vauthors = Gibson RA, Morgan NV, Goldstein LH, Pearson IC, Kesterton IP, Foot NJ, Jansen S, Havenga C, Pearson T, de Ravel TJ, Cohn RJ, Marques IM, Dokal I, Roberts I, Marsh J, Ball S, Milner RD, Llerena JC, Samochatova E, Mohan SP, Vasudevan P, Birjandi F, Hajianpour A, Murer-Orlando M, Mathew CG | title = Novel mutations and polymorphisms in the Fanconi anemia group C gene | journal = Human Mutation | volume = 8 | issue = 2 | pages = 140–8 | year = 1996 | pmid = 8844212 | doi = 10.1002/(SICI)1098-1004(1996)8:2<140::AID-HUMU6>3.0.CO;2-F }}
*{{cite journal | author=Gavish H, dos Santos CC, Buchwald M |title=A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. |journal=Hum. Mol. Genet. |volume=2 |issue= 2 |pages= 123-6 |year= 1993 |pmid= 8499901 |doi= }}
* {{cite journal | vauthors = Kupfer GM, Yamashita T, Naf D, Suliman A, Asano S, D'Andrea AD | title = The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2 | journal = Blood | volume = 90 | issue = 3 | pages = 1047–54  | date = Aug 1997 | pmid = 9242535 | doi =  }}
*{{cite journal | author=Youssoufian H, Li Y, Martin ME, Buchwald M |title=Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele. |journal=J. Clin. Invest. |volume=97 |issue= 4 |pages= 957-62 |year= 1996 |pmid= 8613549 |doi=  }}
* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1-2 | pages = 149–56  | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
*{{cite journal | author=Yamashita T, Wu N, Kupfer G, ''et al.'' |title=Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. |journal=Blood |volume=87 |issue= 10 |pages= 4424-32 |year= 1996 |pmid= 8639804 |doi= }}
*{{cite journal  | author=Lo Ten Foe JR, Rooimans MA, Joenje H, Arwert F |title=Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC. |journal=Hum. Mutat. |volume=7 |issue= 3 |pages= 264-5 |year= 1996 |pmid= 8829660 |doi= 10.1002/(SICI)1098-1004(1996)7:3&lt;264::AID-HUMU11&gt;3.0.CO;2-0 }}
*{{cite journal  | author=Gibson RA, Morgan NV, Goldstein LH, ''et al.'' |title=Novel mutations and polymorphisms in the Fanconi anemia group C gene. |journal=Hum. Mutat. |volume=8 |issue= 2 |pages= 140-8 |year= 1996 |pmid= 8844212 |doi= 10.1002/(SICI)1098-1004(1996)8:2&lt;140::AID-HUMU6&gt;3.0.CO;2-F }}
*{{cite journal | author=Kupfer GM, Yamashita T, Naf D, ''et al.'' |title=The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2. |journal=Blood |volume=90 |issue= 3 |pages= 1047-54 |year= 1997 |pmid= 9242535 |doi=  }}
*{{cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi= }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
== External links ==
{{WikiDoc Sources}}
* [https://www.ncbi.nlm.nih.gov/books/NBK61984/  GeneReviews/NCBI/NIH/UW entry on 9q22.3 Microdeletion]
* [https://www.ncbi.nlm.nih.gov/books/NBK1401/  GeneReviews/NCBI/NIH/UW entry on Fanconi Anemia or Pancytopenia]

Revision as of 05:20, 31 August 2017

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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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Wikidata
View/Edit Human

Fanconi anemia group C protein is a protein that in humans is encoded by the FANCC gene.[1][2]

Structure

Fanconi anaemia group C protein
Identifiers
SymbolFanconi_C
PfamPF02106
InterProIPR000686

Function

The protein encoded by this gene delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. Mutations in this gene result in Fanconi anemia.[2]

A nuclear complex containing FANCC protein (as well as FANCA, FANCF and FANCG) is essential for the activation of the FANCD2 protein to the mono-ubiquitinated isoform.[3] In normal, non-mutant, cells FANCD2 is mono-ubiquinated in response to DNA damage. Activated FANCD2 protein co-localizes with BRCA1 (breast cancer susceptibility protein) at ionizing radiation-induced foci and in synaptonemal complexes of meiotic chromosomes. Activated FANCD2 protein may function prior to the initiation of meiotic recombination, perhaps to prepare chromosomes for synapsis, or to regulate subsequent recombination events.[3]

FANCC(-/-) mutant male and female mice have compromised gametogenesis, leading to markedly impaired fertility, a characteristic of Fanconi anemia patients.[4] Both male and female FANCC mutant mice have reduced numbers of germ cells.[5]

Interactions

Fanconi anemia, complementation group C has been shown to interact with:

References

  1. ↑ Strathdee CA, Duncan AM, Buchwald M (Jun 1992). "Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9". Nature Genetics. 1 (3): 196–8. doi:10.1038/ng0692-196. PMID 1303234.
  2. ↑ 2.0 2.1 "Entrez Gene: FANCC Fanconi anemia, complementation group C".
  3. ↑ 3.0 3.1 Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna J, Grompe M, D'Andrea AD (2001). "Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway". Mol. Cell. 7 (2): 249–62. doi:10.1016/s1097-2765(01)00173-3. PMID 11239454.
  4. ↑ Chen M, Tomkins DJ, Auerbach W, McKerlie C, Youssoufian H, Liu L, Gan O, Carreau M, Auerbach A, Groves T, Guidos CJ, Freedman MH, Cross J, Percy DH, Dick JE, Joyner AL, Buchwald M (1996). "Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia". Nat. Genet. 12 (4): 448–51. doi:10.1038/ng0496-448. PMID 8630504.
  5. ↑ Whitney MA, Royle G, Low MJ, Kelly MA, Axthelm MK, Reifsteck C, Olson S, Braun RE, Heinrich MC, Rathbun RK, Bagby GC, Grompe M (1996). "Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene". Blood. 88 (1): 49–58. PMID 8704201.
  6. ↑ 6.0 6.1 6.2 6.3 6.4 Reuter TY, Medhurst AL, Waisfisz Q, Zhi Y, Herterich S, Hoehn H, Gross HJ, Joenje H, Hoatlin ME, Mathew CG, Huber PA (Oct 2003). "Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport". Experimental Cell Research. 289 (2): 211–21. doi:10.1016/s0014-4827(03)00261-1. PMID 14499622.
  7. ↑ Kupfer GM, Yamashita T, Naf D, Suliman A, Asano S, D'Andrea AD (Aug 1997). "The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2". Blood. 90 (3): 1047–54. PMID 9242535.
  8. ↑ 8.0 8.1 McMahon LW, Walsh CE, Lambert MW (Nov 1999). "Human alpha spectrin II and the Fanconi anemia proteins FANCA and FANCC interact to form a nuclear complex". The Journal of Biological Chemistry. 274 (46): 32904–8. doi:10.1074/jbc.274.46.32904. PMID 10551855.
  9. ↑ 9.0 9.1 de Winter JP, van der Weel L, de Groot J, Stone S, Waisfisz Q, Arwert F, Scheper RJ, Kruyt FA, Hoatlin ME, Joenje H (Nov 2000). "The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG". Human Molecular Genetics. 9 (18): 2665–74. doi:10.1093/hmg/9.18.2665. PMID 11063725.
  10. ↑ Garcia-Higuera I, Kuang Y, Näf D, Wasik J, D'Andrea AD (Jul 1999). "Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex". Molecular and Cellular Biology. 19 (7): 4866–73. doi:10.1128/mcb.19.7.4866. PMC 84285. PMID 10373536.
  11. ↑ Reuter T, Herterich S, Bernhard O, Hoehn H, Gross HJ (Jan 2000). "Strong FANCA/FANCG but weak FANCA/FANCC interaction in the yeast 2-hybrid system". Blood. 95 (2): 719–20. PMID 10627486.
  12. ↑ Thomashevski A, High AA, Drozd M, Shabanowitz J, Hunt DF, Grant PA, Kupfer GM (Jun 2004). "The Fanconi anemia core complex forms four complexes of different sizes in different subcellular compartments". The Journal of Biological Chemistry. 279 (25): 26201–9. doi:10.1074/jbc.M400091200. PMID 15082718.
  13. ↑ Meetei AR, de Winter JP, Medhurst AL, Wallisch M, Waisfisz Q, van de Vrugt HJ, Oostra AB, Yan Z, Ling C, Bishop CE, Hoatlin ME, Joenje H, Wang W (Oct 2003). "A novel ubiquitin ligase is deficient in Fanconi anemia". Nature Genetics. 35 (2): 165–70. doi:10.1038/ng1241. PMID 12973351.
  14. ↑ 14.0 14.1 Taniguchi T, D'Andrea AD (Oct 2002). "The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC". Blood. 100 (7): 2457–62. doi:10.1182/blood-2002-03-0860. PMID 12239156.
  15. ↑ Otsuki T, Young DB, Sasaki DT, Pando MP, Li J, Manning A, Hoekstra M, Hoatlin ME, Mercurio F, Liu JM. "Fanconi anemia protein complex is a novel target of the IKK signalsome". Journal of Cellular Biochemistry. 86 (4): 613–23. doi:10.1002/jcb.10270. PMID 12210728.
  16. ↑ 16.0 16.1 Léveillé F, Blom E, Medhurst AL, Bier P, Laghmani el H, Johnson M, Rooimans MA, Sobeck A, Waisfisz Q, Arwert F, Patel KJ, Hoatlin ME, Joenje H, de Winter JP (Sep 2004). "The Fanconi anemia gene product FANCF is a flexible adaptor protein". The Journal of Biological Chemistry. 279 (38): 39421–30. doi:10.1074/jbc.M407034200. PMID 15262960.
  17. ↑ Gordon SM, Buchwald M (Jul 2003). "Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems". Blood. 102 (1): 136–41. doi:10.1182/blood-2002-11-3517. PMID 12649160.
  18. ↑ Medhurst AL, Huber PA, Waisfisz Q, de Winter JP, Mathew CG (Feb 2001). "Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway". Human Molecular Genetics. 10 (4): 423–9. doi:10.1093/hmg/10.4.423. PMID 11157805.
  19. ↑ Pace P, Johnson M, Tan WM, Mosedale G, Sng C, Hoatlin M, de Winter J, Joenje H, Gergely F, Patel KJ (Jul 2002). "FANCE: the link between Fanconi anaemia complex assembly and activity". The EMBO Journal. 21 (13): 3414–23. doi:10.1093/emboj/cdf355. PMC 125396. PMID 12093742.
  20. ↑ Cumming RC, Lightfoot J, Beard K, Youssoufian H, O'Brien PJ, Buchwald M (Jul 2001). "Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1". Nature Medicine. 7 (7): 814–20. doi:10.1038/89937. PMID 11433346.
  21. ↑ Pang Q, Christianson TA, Keeble W, Koretsky T, Bagby GC (Dec 2002). "The anti-apoptotic function of Hsp70 in the interferon-inducible double-stranded RNA-dependent protein kinase-mediated death signaling pathway requires the Fanconi anemia protein, FANCC". The Journal of Biological Chemistry. 277 (51): 49638–43. doi:10.1074/jbc.M209386200. PMID 12397061.
  22. ↑ McMahon LW, Sangerman J, Goodman SR, Kumaresan K, Lambert MW (Jun 2001). "Human alpha spectrin II and the FANCA, FANCC, and FANCG proteins bind to DNA containing psoralen interstrand cross-links". Biochemistry. 40 (24): 7025–34. doi:10.1021/bi002917g. PMID 11401546.
  23. ↑ Pang Q, Fagerlie S, Christianson TA, Keeble W, Faulkner G, Diaz J, Rathbun RK, Bagby GC (Jul 2000). "The Fanconi anemia protein FANCC binds to and facilitates the activation of STAT1 by gamma interferon and hematopoietic growth factors". Molecular and Cellular Biology. 20 (13): 4724–35. doi:10.1128/mcb.20.13.4724-4735.2000. PMC 85895. PMID 10848598.
  24. ↑ Pang Q, Christianson TA, Keeble W, Diaz J, Faulkner GR, Reifsteck C, Olson S, Bagby GC (Sep 2001). "The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality". Blood. 98 (5): 1392–401. doi:10.1182/blood.v98.5.1392. PMID 11520787.
  25. ↑ Hoatlin ME, Zhi Y, Ball H, Silvey K, Melnick A, Stone S, Arai S, Hawe N, Owen G, Zelent A, Licht JD (Dec 1999). "A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF". Blood. 94 (11): 3737–47. PMID 10572087.

Further reading

External links

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