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FANCC

Protein FULL name:

Fanconi anemia group C protein [Homo sapiens].


FANCC (Homo sapiens) is product of expression of FANCC gene.

Human diseases related to this protein:

FANCC is involved in:

DDS in Homo sapiens
     
HRR in Homo sapiens
     


Keywords:



FUNCTION: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.

SUBUNIT: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. Interacts with ZBTB32.

SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.

TISSUE SPECIFICITY: Ubiquitous.

DISEASE: Defects in FANare a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair.

WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; [LINK]

WEB RESOURCE: Name=Fanconi Anemia Mutation Database; [LINK]

WEB RESOURCE: Name=GeneReviews; [LINK]

WEB RESOURCE: Name=NIEHS-SNPs; [LINK]


NCBI GenPept GI number(s): 56118236
Species: Homo sapiens

Links to other databases:

Database ID Link
Uniprot Q00597 Q00597
PFAM: - Q00597 (Link - using uniprot id)
InterPro: - Q00597 (Link - using uniprot id)
CATH: None  
SCOP: None  
PDB: - -


Protein sequence:
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYE
ALKEMDSNTVIERFPTIGQLLAKACWNPFILAYDESQKILIWCLCCLINK
EPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLL
KNMVLSLASELRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLV
EALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVVCLWLRHLPSL
EKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRC
ALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAM
VLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVL
GHLLAMSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPG
GHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLAREL
LKELRTQV

FANCC (Homo sapiens) is able to recognize following damages:
FANCC (Homo sapiens) belongs to following protein families:
References:

Title Authors Journal
Cloning of cDNAs for Fanconi's anaemia by functional complementation. Strathdee CA, Gavish H, Shannon WR, Buchwald M Nature April 1, 1992
Cloning of cDNAs for Fanconi's anaemia by functional complementation. Strathdee CA, Gavish H, Shannon WR, Buchwald M Nature July 1, 1992
A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. Gavish H, dos Santos CC, Buchwald M Hum Mol Genet Jan. 1, 1993
Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. Gibson RA, Buchwald M, Roberts RG, Mathew CG Hum Mol Genet Feb. 1, 1993
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Whitney MA, Saito H, Jakobs PM, Gibson RA, Moses RE, Grompe M Nat Genet June 1, 1993
Mutation analysis of the Fanconi anemia gene FACC. Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Mathew CG, Auerbach AD Am J Hum Genet April 1, 1994
The Fanconi anemia polypeptide FACC is localized to the cytoplasm. Yamashita T, Barber DL, Zhu Y, Wu N, D'Andrea AD Proc Natl Acad Sci U S A July 5, 1994
Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. Youssoufian H Proc Natl Acad Sci U S A Aug. 16, 1994
Novel mutations and polymorphisms in the Fanconi anemia group C gene. 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 Jr, Samochatova E, Mohan SP, Vasudevan P, Birjandi F, Hajianpour A, Murer-Orlando M, Mathew CG Hum Mutat Jan. 1, 1996
A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF. Hoatlin ME, Zhi Y, Ball H, Silvey K, Melnick A, Stone S, Arai S, Hawe N, Owen G, Zelent A, Licht JD Blood Dec. 1, 1999
A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. Meetei AR, Sechi S, Wallisch M, Yang D, Young MK, Joenje H, Hoatlin ME, Wang W Mol Cell Biol May 1, 2003
DNA sequence and analysis of human chromosome 9. Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I Nature May 27, 2004
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J Genome Res Oct. 1, 2004
X-linked inheritance of Fanconi anemia complementation group B. Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, Rooimans MA, Bier P, Hoatlin M, Pals G, de Winter JP, Wang W, Joenje H Nat Genet Nov. 1, 2004
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. Meetei AR, Medhurst AL, Ling C, Xue Y, Singh TR, Bier P, Steltenpool J, Stone S, Dokal I, Mathew CG, Hoatlin M, Joenje H, de Winter JP, Wang W Nat Genet Sept. 1, 2005


Last modification of this entry: Oct. 12, 2010.

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