Entity Details

Primary name ERCC5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP28715
EntryNameERCC5_HUMAN
FullNameDNA excision repair protein ERCC-5
TaxID9606
Evidenceevidence at protein level
Length1186
SequenceStatuscomplete
DateCreated1993-04-01
DateModified2021-06-02

Ontological Relatives

GenesERCC5

GO terms

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GOName
GO:0000109 nucleotide-excision repair complex
GO:0000405 bubble DNA binding
GO:0000724 double-strand break repair via homologous recombination
GO:0000993 RNA polymerase II complex binding
GO:0003684 damaged DNA binding
GO:0003690 double-stranded DNA binding
GO:0003697 single-stranded DNA binding
GO:0004519 endonuclease activity
GO:0004520 endodeoxyribonuclease activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006285 base-excision repair, AP site formation
GO:0006289 nucleotide-excision repair
GO:0006293 nucleotide-excision repair, preincision complex stabilization
GO:0006294 nucleotide-excision repair, preincision complex assembly
GO:0006295 nucleotide-excision repair, DNA incision, 3'-to lesion
GO:0006296 nucleotide-excision repair, DNA incision, 5'-to lesion
GO:0008047 enzyme activator activity
GO:0009411 response to UV
GO:0009650 UV protection
GO:0010225 response to UV-C
GO:0032991 protein-containing complex
GO:0033683 nucleotide-excision repair, DNA incision
GO:0042803 protein homodimerization activity
GO:0043066 negative regulation of apoptotic process
GO:0044877 protein-containing complex binding
GO:0046872 metal ion binding
GO:0047485 protein N-terminus binding
GO:0050790 regulation of catalytic activity

Subcellular Location

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Subcellular Location
Chromosome
Nucleus

Domains

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DomainNameCategoryType
IPR001044 XPG/Rad2 endonuclease, eukaryotesFamilyFamily
IPR006084 XPG/Rad2 endonucleaseFamilyFamily
IPR006085 XPG, N-terminalDomainDomain
IPR006086 XPG-I domainDomainDomain
IPR008918 Helix-hairpin-helix motif, class 2SiteConserved site
IPR019974 XPG conserved siteSiteConserved site
IPR029060 PIN-like domain superfamilyFamilyHomologous superfamily
IPR036279 5'-3' exonuclease, C-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
278780 OMIMXeroderma pigmentosum complementation group G (XP-G)An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. The disease is caused by variants affecting the gene represented in this entry.
616570 OMIMCerebro-oculo-facio-skeletal syndrome 3 (COFS3)A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. The disease is caused by variants affecting the gene represented in this entry.