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XPG Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too. Defects in ERCC5 are the cause of xeroderma pigmentosum complementation group G (XP-G); also known as xeroderma pigmentosum VII (XP7). Xeroderma pigmentosum is 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. Some XP-G patients present features of Cockayne syndrome, including dwarfism, sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. Belongs to the XPG/RAD2 endonuclease family. XPG subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: DNA repair, damage; Deoxyribonuclease; EC 3.1.-.-
Chromosomal Location of Human Ortholog: 13q33.1
Cellular Component: DNA replication factor A complex; DNA-directed RNA polymerase II, holoenzyme; holo TFIIH complex; nucleoplasm; nucleus
Molecular Function: bubble DNA binding; double-stranded DNA binding; endodeoxyribonuclease activity; protein binding; protein homodimerization activity; protein N-terminus binding; single-stranded DNA binding
Biological Process: negative regulation of apoptosis; nucleotide-excision repair, DNA incision; nucleotide-excision repair, DNA incision, 3'-to lesion; nucleotide-excision repair, DNA incision, 5'-to lesion; nucleotide-excision repair, preincision complex assembly; nucleotide-excision repair, preincision complex stabilization; response to UV; response to UV-C; transcription-coupled nucleotide-excision repair; UV protection
Disease: Cerebrooculofacioskeletal Syndrome 3; Xeroderma Pigmentosum, Complementation Group G
Reference #:  P28715 (UniProtKB)
Alt. Names/Synonyms: COFS3; DNA excision repair protein ERCC-5; DNA repair protein complementing XP-G cells; ERCC5; ERCM2; excision repair cross-complementing rodent repair deficiency, complementation group 5; excision repair protein; UVDR; xeroderma pigmentosum complementation group G protein; Xeroderma pigmentosum group G-complementing protein; xeroderma pigmentosum, complementation group G; XPG; XPG-complementing protein; XPGC
Gene Symbols: ERCC5
Molecular weight: 133,108 Da
Basal Isoelectric point: 5.13  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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