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0  structures 36  species 0  interactions 88  sequences 3  architectures

Family: Fanconi_C (PF02106)

Summary: Fanconi anaemia group C protein

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This is the Wikipedia entry entitled "Fanconi anemia, complementation group C". More...

Fanconi anemia, complementation group C Edit Wikipedia article

Fanconi anemia, complementation group C
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:
97.86 – 98.08 Mb
Chr 13:
63.3 – 63.5 Mb
PubMed search [1] [2]
Fanconi anaemia group C protein
Symbol Fanconi_C
Pfam PF02106
InterPro IPR000686

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

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 STAT1,[3][4][5] ZBTB32,[4][6] GSTP1,[4][7] Cdk1,[4][8] SPTAN1,[9][10] HSPA1A,[4][11] FANCF,[12][13] FANCA[10][13][14][15][16][17][18][19] and FANCE.[12][18][20][21][22]


  1. ^ Strathdee CA, Duncan AM, Buchwald M (June 1993). "Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9". Nat Genet 1 (3): 196–8. doi:10.1038/ng0692-196. PMID 1303234. 
  2. ^ a b "Entrez Gene: FANCC Fanconi anemia, complementation group C". 
  3. ^ Pang, Q; Fagerlie S, Christianson T A, Keeble W, Faulkner G, Diaz J, Rathbun R K, Bagby G C (July 2000). "The Fanconi Anemia Protein FANCC Binds to and Facilitates the Activation of STAT1 by Gamma Interferon and Hematopoietic Growth Factors". Mol. Cell. Biol. (UNITED STATES) 20 (13): 4724–35. doi:10.1128/MCB.20.13.4724-4735.2000. ISSN 0270-7306. PMC 85895. PMID 10848598. 
  4. ^ a b c d e Reuter, Tanja Y; Medhurst Annette L, Waisfisz Quinten, Zhi Yu, Herterich Sabine, Hoehn Holger, Gross Hans J, Joenje Hans, Hoatlin Maureen E, Mathew Christopher G, Huber Pia A J (October 2003). "Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport". Exp. Cell Res. (United States) 289 (2): 211–21. doi:10.1016/S0014-4827(03)00261-1. ISSN 0014-4827. PMID 14499622. 
  5. ^ Pang, Q; Christianson T A, Keeble W, Diaz J, Faulkner G R, Reifsteck C, Olson S, Bagby G C (September 2001). "The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality". Blood (United States) 98 (5): 1392–401. doi:10.1182/blood.V98.5.1392. ISSN 0006-4971. PMID 11520787. 
  6. ^ Hoatlin, M E; Zhi Y, Ball H, Silvey K, Melnick A, Stone S, Arai S, Hawe N, Owen G, Zelent A, Licht J D (December 1999). "A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF". Blood (UNITED STATES) 94 (11): 3737–47. ISSN 0006-4971. PMID 10572087. 
  7. ^ Cumming, R C; Lightfoot J, Beard K, Youssoufian H, O'Brien P J, Buchwald M (July 2001). "Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1". Nat. Med. (United States) 7 (7): 814–20. doi:10.1038/89937. ISSN 1078-8956. PMID 11433346. 
  8. ^ Kupfer, G M; Yamashita T, Naf D, Suliman A, Asano S, D'Andrea A D (August 1997). "The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2". Blood (UNITED STATES) 90 (3): 1047–54. ISSN 0006-4971. PMID 9242535. 
  9. ^ McMahon, L W; Sangerman J, Goodman S R, Kumaresan K, Lambert M W (June 2001). "Human alpha spectrin II and the FANCA, FANCC, and FANCG proteins bind to DNA containing psoralen interstrand cross-links". Biochemistry (United States) 40 (24): 7025–34. doi:10.1021/bi002917g. ISSN 0006-2960. PMID 11401546. 
  10. ^ a b McMahon, L W; Walsh C E, Lambert M W (November 1999). "Human alpha spectrin II and the Fanconi anemia proteins FANCA and FANCC interact to form a nuclear complex". J. Biol. Chem. (UNITED STATES) 274 (46): 32904–8. doi:10.1074/jbc.274.46.32904. ISSN 0021-9258. PMID 10551855. 
  11. ^ Pang, Qishen; Christianson Tracy A, Keeble Winifred, Koretsky Tara, Bagby Grover C (December 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". J. Biol. Chem. (United States) 277 (51): 49638–43. doi:10.1074/jbc.M209386200. ISSN 0021-9258. PMID 12397061. 
  12. ^ a b Léveillé, France; Blom Eric, Medhurst Annette L, Bier Patrick, Laghmani El Houari, Johnson Mark, Rooimans Martin A, Sobeck Alexandra, Waisfisz Quinten, Arwert Fré, Patel K J, Hoatlin Maureen E, Joenje Hans, de Winter Johan P (September 2004). "The Fanconi anemia gene product FANCF is a flexible adaptor protein". J. Biol. Chem. (United States) 279 (38): 39421–30. doi:10.1074/jbc.M407034200. ISSN 0021-9258. PMID 15262960. 
  13. ^ a b de Winter, J P; van der Weel L, de Groot J, Stone S, Waisfisz Q, Arwert F, Scheper R J, Kruyt F A, Hoatlin M E, Joenje H (November 2000). "The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG". Hum. Mol. Genet. (ENGLAND) 9 (18): 2665–74. doi:10.1093/hmg/9.18.2665. ISSN 0964-6906. PMID 11063725. 
  14. ^ Garcia-Higuera, I; Kuang Y, Näf D, Wasik J, D'Andrea A D (July 1999). "Fanconi Anemia Proteins FANCA, FANCC, and FANCG/XRCC9 Interact in a Functional Nuclear Complex". Mol. Cell. Biol. (UNITED STATES) 19 (7): 4866–73. ISSN 0270-7306. PMC 84285. PMID 10373536. 
  15. ^ Reuter, T; Herterich S, Bernhard O, Hoehn H, Gross H J (January 2000). "Strong FANCA/FANCG but weak FANCA/FANCC interaction in the yeast 2-hybrid system". Blood (UNITED STATES) 95 (2): 719–20. ISSN 0006-4971. PMID 10627486. 
  16. ^ Thomashevski, Andrei; High Anthony A, Drozd Mary, Shabanowitz Jeffrey, Hunt Donald F, Grant Patrick A, Kupfer Gary M (June 2004). "The Fanconi anemia core complex forms four complexes of different sizes in different subcellular compartments". J. Biol. Chem. (United States) 279 (25): 26201–9. doi:10.1074/jbc.M400091200. ISSN 0021-9258. PMID 15082718. 
  17. ^ Meetei, Amom Ruhikanta; de Winter Johan P, Medhurst Annette L, Wallisch Michael, Waisfisz Quinten, van de Vrugt Henri J, Oostra Anneke B, Yan Zhijiang, Ling Chen, Bishop Colin E, Hoatlin Maureen E, Joenje Hans, Wang Weidong (October 2003). "A novel ubiquitin ligase is deficient in Fanconi anemia". Nat. Genet. (United States) 35 (2): 165–70. doi:10.1038/ng1241. ISSN 1061-4036. PMID 12973351. 
  18. ^ a b Taniguchi, Toshiyasu; D'Andrea Alan D (October 2002). "The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC". Blood (United States) 100 (7): 2457–62. doi:10.1182/blood-2002-03-0860. ISSN 0006-4971. PMID 12239156. 
  19. ^ Otsuki, Tetsuya; Young David B, Sasaki Dennis T, Pando Matthew P, Li Jianwu, Manning Anthony, Hoekstra Merl, Hoatlin Maureen E, Mercurio Frank, Liu Johnson M (2002). "Fanconi anemia protein complex is a novel target of the IKK signalsome". J. Cell. Biochem. (United States) 86 (4): 613–23. doi:10.1002/jcb.10270. ISSN 0730-2312. PMID 12210728. 
  20. ^ Gordon, Susan M; Buchwald Manuel (July 2003). "Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems". Blood (United States) 102 (1): 136–41. doi:10.1182/blood-2002-11-3517. ISSN 0006-4971. PMID 12649160. 
  21. ^ Medhurst, A L; Huber P A, Waisfisz Q, de Winter J P, Mathew C G (February 2001). "Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway". Hum. Mol. Genet. (England) 10 (4): 423–9. doi:10.1093/hmg/10.4.423. ISSN 0964-6906. PMID 11157805. 
  22. ^ Pace, Paul; Johnson Mark, Tan Wu Meng, Mosedale Georgina, Sng Chelvin, Hoatlin Maureen, de Winter Johan, Joenje Hans, Gergely Fanni, Patel K J (July 2002). "FANCE: the link between Fanconi anaemia complex assembly and activity". EMBO J. (England) 21 (13): 3414–23. doi:10.1093/emboj/cdf355. ISSN 0261-4189. PMC 125396. PMID 12093742. 

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Fanconi anaemia group C protein Provide feedback

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This tab holds annotation information from the InterPro database.

InterPro entry IPR000686

Fanconi anaemia (FA) [PUBMED:8490620, PUBMED:7929819, PUBMED:1574115] is a recessive inherited disease characterised by defective DNA repair. FA cells are sensitive to DNA cross-linking agents that cause chromosomal instability and cell death. The disease is manifested clinically by progressive pancytopenia, variable physical anomalies, and predisposition to malignancy. Four complementation groups have been identified, designated A to D. The gene for group C (FACC) has been cloned. Expression of the FACC cDNA corrects the phenotypic defect of FA(C) cells, resulting in normalized cell growth in the presence of DNA cross-linking agents such as mitomycin C (MMC). Gene transfer of the FACC gene should provide a survival advantage to transduced hematopoietic cells, suggesting that FA might be an ideal candidate for gene therapy [PUBMED:7929819]. The function of the FACC gene is not known. Immunofluorescence and sub-cellular fractionation studies of human cell lines, and COS-7 cells transiently expressing human FACC, showed the protein to be located primarily in the cytoplasm. Yet, placement of a nuclear localisation signal at the N terminus of FACC directed the hybrid protein to the nuclei of transfected COS-7 cells. Such findings suggest an indirect role for FACC in regulating DNA repair in this group of Fanconi anaemia [PUBMED:8058745].

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Seed source: IPR000686
Previous IDs: Fanconi;
Type: Family
Author: Mian N, Bateman A
Number in seed: 5
Number in full: 88
Average length of the domain: 385.40 aa
Average identity of full alignment: 44 %
Average coverage of the sequence by the domain: 98.24 %

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build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 23193494 -E 1000 --cpu 4 HMM pfamseq
Model details:
Parameter Sequence Domain
Gathering cut-off 25.0 25.0
Trusted cut-off 26.3 26.1
Noise cut-off 19.8 22.6
Model length: 559
Family (HMM) version: 10
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