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Fanconi anemia, complementation group C

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FANCC
Identifiers
AliasesFANCC, Fancc, Facc, FA3, FAC, mir-3074-1, FACC, Fanconi anemia complementation group C, FA complementation group C
External IDsOMIM: 613899; MGI: 95480; HomoloGene: 109; GeneCards: FANCC; OMA:FANCC - orthologs
Orthologs
SpeciesHumanMouse
Entrez

2176

14088

Ensembl

ENSG00000158169

ENSMUSG00000021461

UniProt

Q00597

P50652

RefSeq (mRNA)

NM_000136
NM_001243743
NM_001243744

NM_001042673
NM_001282942
NM_007985
NM_001347514
NM_001347515

RefSeq (protein)

NP_000127
NP_001230672
NP_001230673

NP_001036138
NP_001269871
NP_001334443
NP_001334444
NP_032011

Location (UCSC)Chr 9: 95.1 – 95.43 MbChr 13: 63.43 – 63.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Fanconi anemia group C protein is a protein that in humans is encoded by the FANCC gene.[5][6]

Structure

Fanconi anaemia group C protein
Identifiers
SymbolFanconi_C
PfamPF02106
InterProIPR000686
Available protein structures:
Pfam  structures / ECOD  
PDBRCSB PDB; PDBe; PDBj
PDBsumstructure summary

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.[6]

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.[7] In normal, non-mutant, cells FANCD2 is mono-ubiquinated in response to DNA damage. FANCC together with FANCE acts as the substrate adaptor for this reaction [8] 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.[7]

FANCC(-/-) mutant male and female mice have compromised gametogenesis, leading to markedly impaired fertility, a characteristic of Fanconi anemia patients.[9] Both male and female FANCC mutant mice have reduced numbers of germ cells.[10]

Interactions

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000158169 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021461 – 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. ^ 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. S2CID 7341515.
  6. ^ a b "Entrez Gene: FANCC Fanconi anemia, complementation group C".
  7. ^ a b 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.
  8. ^ van Twest, S; Murphy, VJ; Hodson, C; Tan, W; Swuec, P; O'Rourke, JJ; Heierhorst, J; Crismani, W; Deans, AJ (19 January 2017). "Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway". Molecular Cell. 65 (2): 247–259. doi:10.1016/j.molcel.2016.11.005. PMID 27986371.
  9. ^ 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. S2CID 34666783.
  10. ^ 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. doi:10.1182/blood.V88.1.49.49. PMID 8704201.
  11. ^ a b c d e 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.
  12. ^ 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. doi:10.1182/blood.V90.3.1047. PMID 9242535.
  13. ^ a b 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.
  14. ^ a b 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.
  15. ^ 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.
  16. ^ 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. doi:10.1182/blood.V95.2.719. PMID 10627486.
  17. ^ 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.
  18. ^ 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. S2CID 10149290.
  19. ^ a b 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.
  20. ^ Otsuki T, Young DB, Sasaki DT, Pando MP, Li J, Manning A, Hoekstra M, Hoatlin ME, Mercurio F, Liu JM (2002). "Fanconi anemia protein complex is a novel target of the IKK signalsome". Journal of Cellular Biochemistry (Submitted manuscript). 86 (4): 613–23. doi:10.1002/jcb.10270. PMID 12210728. S2CID 42471384.
  21. ^ a b 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.
  22. ^ 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.
  23. ^ 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.
  24. ^ 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.
  25. ^ 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. S2CID 35177844.
  26. ^ 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.
  27. ^ 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.
  28. ^ 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.
  29. ^ 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.
  30. ^ 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. doi:10.1182/blood.V94.11.3737. PMID 10572087.

Further reading

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