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ERCC1

Protein FULL name:

DNA excision repair protein ERCC-1 isoform 1 [Homo sapiens].


Protein SHORT name:

ERCC1, ERCC-1


ERCC1 (Homo sapiens) is product of expression of ERCC1 gene.

Human diseases related to this protein:

ERCC1 is involved in:

NER in Homo sapiens
     


Keywords:



FUNCTION: Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair.

SUBUNIT: Heterodimer composed of ERCC1 and XPF/ERRC4.

SUBCELLULAR LOCATION: Nucleus.

DISEASE: Defects in ERCC1 are the cause of cerebro-oculo-facio- skeletal syndrome type 4 (COFS4) [MIM:610758]. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur.

SIMILARITY: Belongs to the ERCC1/RAD10/SWI10 family.

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

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


NCBI GenPept GI number(s): 42544169
4503599
119538
Species: Homo sapiens

Links to other databases:

Database ID Link
Uniprot P07992 P07992
PFAM: - P07992 (Link - using uniprot id)
InterPro: - P07992 (Link - using uniprot id)
CATH: - -
SCOP: - -
PDB: - -


Protein sequence:
MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVD
TSAQAAPQTYAEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNS
IIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHP
DYIHGRLQSLGKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAW
SPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRVTECLTTVKSVNKTDS
QTLLTTFGSLEQLIAASREDLALCPGLGPQKVRALGKNPRSWGKERAPNK
HNLRPQSFKVKKEPKTRHSGFRL

ERCC1 (Homo sapiens) is able to recognize following damages:
References:

Title Authors Journal
Identification of DNA repair genes in the human genome. Hoeijmakers JH, van Duin M, Westerveld A, Yasui A, Bootsma D Cold Spring Harb Symp Quant Biol Jan. 1, 1986
Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RAD10. van Duin M, de Wit J, Odijk H, Westerveld A, Yasui A, Koken MH, Hoeijmakers JH, Bootsma D Cell March 28, 1986
A nucleotide polymorphism in ERCC1 in human ovarian cancer cell lines and tumor tissues. Yu JJ, Mu C, Lee KB, Okamoto A, Reed EL, Bostick-Bruton F, Mitchell KC, Reed E Mutat Res Sept. 1, 1997
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
First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, Giglia-Mari G, Hoogstraten D, Kleijer WJ, Hoeijmakers JH, Vermeulen W Am J Hum Genet March 1, 2007


Last modification of this entry: Oct. 19, 2010.

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