Fanconi anemia, complementation group C

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Fanconi anemia, complementation group C
Symbols FANCC ; FA3; FAC; FACC
External IDs OMIM613899 MGI95480 HomoloGene109 GeneCards: FANCC Gene
RNA expression pattern
PBB GE FANCC 205189 s at tn.png
More reference expression data
Species Human Mouse
Entrez 2176 14088
Ensembl ENSG00000158169 ENSMUSG00000021461
UniProt Q00597 P50652
RefSeq (mRNA) NM_000136 NM_001042673
RefSeq (protein) NP_000127 NP_001036138
Location (UCSC) Chr 9:
95.1 – 95.32 Mb
Chr 13:
63.3 – 63.5 Mb
PubMed search [1] [2]

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


Fanconi anaemia group C protein
Symbol Fanconi_C
Pfam PF02106
InterPro IPR000686


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]


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


  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. ^ a b "Entrez Gene: FANCC Fanconi anemia, complementation group C". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ 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. PMC 84285. PMID 10373536. 
  8. ^ 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. 
  9. ^ 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. 
  10. ^ 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. 
  11. ^ 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. 
  12. ^ 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. 
  13. ^ 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. 
  14. ^ 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. 
  15. ^ 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. 
  16. ^ 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. 
  17. ^ 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. 
  18. ^ 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. 
  19. ^ 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. 
  20. ^ 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. 
  21. ^ 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. 
  22. ^ 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. 

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