ERCC1

DNA excision repair protein ERCC-1

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.,function:Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair.,similarity:Belongs to the ERCC1/RAD10/SWI10 family.,subunit:Heterodimer composed of ERCC1 and XPF/ERRC4.,

nucleotide-excision repair, DNA damage removal, pyrimidine dimer repair by nucleotide-excision repair, DNA catabolic process, endonucleolytic, replicative cell aging, cell activation, somatic diversification of immune receptors, somatic recombination of immunoglobulin genes during immune response, somatic diversification of immunoglobulins during immune response, adaptive immune response, immune effector process, immunoglobulin production, immunoglobulin production during immune response, production of molecular mediator of immune response, leukocyte mediated immunity, lymphocyte mediated immunity, adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains, immune system development, somatic diversification of immune receptors via germline recombination within a single locus, reproductive developmental process, DNA metabolic process, DNA repair, nucleotide-excision repair, pyrimidine dimer repair, nucleotide-excision repair, DNA incision, 3'-to lesion, nucleotide-excision repair, DNA incision, 5'-to lesion, double-strand break repair, DNA catabolic process, DNA recombination, mitotic recombination, syncytium formation, immune response, response to DNA damage stimulus, response to oxidative stress, gamete generation, germ cell development, spermatogenesis, female gamete generation, sex differentiation, aging, cell aging, cell proliferation, gonad development, male gonad development,macromolecule catabolic process, response to radiation, response to UV, response to light stimulus, response to abiotic stimulus, UV protection, post-embryonic development, response to X-ray, response to ionizing radiation,multicellular organismal aging, negative regulation of macromolecule metabolic process, negative regulation of organelle organization, regulation of cell death, immunoglobulin mediated immune response, somatic cell DNA recombination, somatic diversification of immunoglobulins, somatic recombination of immunoglobulin gene segments, B cell mediated immunity, sexual reproduction, hemopoiesis, regulation of telomere maintenance, negative regulation of telomere maintenance, multicellular organism reproduction, regulation of homeostatic process, negative regulation of homeostatic process, regulation of organelle organization, regulation of chromosome organization, cellular response to stress, nucleotide-excision repair, DNA incision, post-embryonic hemopoiesis, multicellular organism growth, growth,B cell activation, regulation of apoptosis, negative regulation of apoptosis, regulation of programmed cell death,negative regulation of programmed cell death, cellular macromolecule catabolic process, development of primary sexual characteristics, isotype switching, leukocyte activation, negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process, development of primary male sexual characteristics, lymphocyte activation, male sex differentiation, male gamete generation, oogenesis, hemopoietic or lymphoid organ development,post-embryonic organ development, reproductive structure development, reproductive process in a multicellular organism, reproductive cellular process, regulation of DNA metabolic process, negative regulation of DNA metabolic process, negative regulation of cellular component organization, negative regulation of nitrogen compound metabolic process, chromosome organization, negative regulation of cell death,

[Isoform 1]: Nucleus .; [Isoform 2]: Cytoplasm . Nucleus .; [Isoform 3]: Nucleus .; [Isoform 4]: Nucleus .