Fanconi anemia, complementation group C

Fanconi anemia, complementation group C
Identifiers
Symbols	FANCC ; FA3; FAC; FACC
External IDs	OMIM: 613899 MGI: 95480 HomoloGene: 109 GeneCards: FANCC Gene
Gene ontology Molecular function • protein binding Cellular component • chromatin • nucleus • nucleoplasm • cytoplasm • cytosol • Fanconi anaemia nuclear complex Biological process • myeloid cell homeostasis • DNA repair • nucleotide-excision repair • protein complex assembly • germ cell development • removal of superoxide radicals • activation of mitophagy in response to mitochondrial depolarization Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
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

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
Symbol	Fanconi_C
Pfam	PF02106
InterPro	IPR000686
Available protein structures: Pfam structures PDB RCSB PDB; PDBe; PDBj PDBsum structure 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.^[2]

Interactions

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

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

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. "Entrez Gene: FANCC Fanconi anemia, complementation group C".
3. 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. 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. 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. doi:10.1128/mcb.19.7.4866. 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. 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. 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.

Further reading

• Strathdee CA, Gavish H, Shannon WR, Buchwald M (Apr 1992). "Cloning of cDNAs for Fanconi's anaemia by functional complementation". Nature 356 (6372): 763–7. doi:10.1038/356763a0. PMID 1574115.
• Strathdee CA, Gavish H, Shannon WR, Buchwald M (Jul 1992). "Cloning of cDNAs for Fanconi's anaemia by functional complementation". Nature 358 (6385): 434. doi:10.1038/358434a0. PMID 1641028.
• Verlander PC, Kaporis A, Liu Q, Zhang Q, Seligsohn U, Auerbach AD (Dec 1995). "Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population". Blood 86 (11): 4034–8. PMID 7492758. Check date values in: |year= / |date= mismatch (help)
• Yamashita T, Barber DL, Zhu Y, Wu N, D'Andrea AD (Jul 1994). "The Fanconi anemia polypeptide FACC is localized to the cytoplasm". Proceedings of the National Academy of Sciences of the United States of America 91 (14): 6712–6. doi:10.1073/pnas.91.14.6712. PMC 44273. PMID 7517562.
• Segal GM, Magenis RE, Brown M, Keeble W, Smith TD, Heinrich MC, Bagby GC (Aug 1994). "Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells". The Journal of Clinical Investigation 94 (2): 846–52. doi:10.1172/JCI117405. PMC 296166. PMID 7518843.
• Youssoufian H (Aug 1994). "Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells". Proceedings of the National Academy of Sciences of the United States of America 91 (17): 7975–9. doi:10.1073/pnas.91.17.7975. PMC 44527. PMID 8058745.
• Whitney MA, Jakobs P, Kaback M, Moses RE, Grompe M (1994). "The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population". Human Mutation 3 (4): 339–41. doi:10.1002/humu.1380030402. PMID 8081385.
• Murer-Orlando M, Llerena JC, Birjandi F, Gibson RA, Mathew CG (Sep 1993). "FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia". Lancet 342 (8872): 686. doi:10.1016/0140-6736(93)91800-2. PMID 8103176.
• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Mathew CG, Auerbach AD (Apr 1994). "Mutation analysis of the Fanconi anemia gene FACC". American Journal of Human Genetics 54 (4): 595–601. PMC 1918103. PMID 8128956.
• Whitney MA, Saito H, Jakobs PM, Gibson RA, Moses RE, Grompe M (Jun 1993). "A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews". Nature Genetics 4 (2): 202–5. doi:10.1038/ng0693-202. PMID 8348157.
• Gibson RA, Buchwald M, Roberts RG, Mathew CG (Jan 1993). "Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR". Human Molecular Genetics 2 (1): 35–8. doi:10.1093/hmg/2.1.35. PMID 8490620.
• Gavish H, dos Santos CC, Buchwald M (Feb 1993). "A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein". Human Molecular Genetics 2 (2): 123–6. doi:10.1093/hmg/2.2.123. PMID 8499901.
• Youssoufian H, Li Y, Martin ME, Buchwald M (Feb 1996). "Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele". The Journal of Clinical Investigation 97 (4): 957–62. doi:10.1172/JCI118519. PMC 507141. PMID 8613549.
• Yamashita T, Wu N, Kupfer G, Corless C, Joenje H, Grompe M, D'Andrea AD (May 1996). "Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity". Blood 87 (10): 4424–32. PMID 8639804.
• Lo Ten Foe JR, Rooimans MA, Joenje H, Arwert F (1996). "Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC". Human Mutation 7 (3): 264–5. doi:10.1002/(SICI)1098-1004(1996)7:3<264::AID-HUMU11>3.0.CO;2-0. PMID 8829660.
• 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 (1996). "Novel mutations and polymorphisms in the Fanconi anemia group C gene". Human Mutation 8 (2): 140–8. doi:10.1002/(SICI)1098-1004(1996)8:2<140::AID-HUMU6>3.0.CO;2-F. PMID 8844212.
• 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.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.

External links

• GeneReviews/NCBI/NIH/UW entry on 9q22.3 Microdeletion
• GeneReviews/NCBI/NIH/UW entry on Fanconi Anemia or Pancytopenia