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P28715

- ERCC5_HUMAN

UniProt

P28715 - ERCC5_HUMAN

Protein

DNA repair protein complementing XP-G cells

Gene

ERCC5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 174 (01 Oct 2014)
      Sequence version 3 (02 Sep 2008)
      Previous versions | rss
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    Functioni

    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.

    Cofactori

    Binds 2 magnesium ions per subunit. They probably participate in the reaction catalyzed by the enzyme. May bind an additional third magnesium ion after substrate binding By similarity.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi30 – 301Magnesium 1By similarity
    Metal bindingi77 – 771Magnesium 1By similarity
    Metal bindingi789 – 7891Magnesium 1By similarity
    Metal bindingi791 – 7911Magnesium 1By similarity
    Metal bindingi810 – 8101Magnesium 2By similarity
    Metal bindingi812 – 8121Magnesium 2By similarity
    Metal bindingi861 – 8611Magnesium 2By similarity

    GO - Molecular functioni

    1. bubble DNA binding Source: UniProtKB
    2. double-stranded DNA binding Source: UniProtKB
    3. endodeoxyribonuclease activity Source: UniProtKB
    4. endonuclease activity Source: Reactome
    5. metal ion binding Source: UniProtKB-KW
    6. protein binding Source: UniProtKB
    7. protein homodimerization activity Source: UniProtKB
    8. protein N-terminus binding Source: UniProtKB
    9. single-stranded DNA binding Source: UniProtKB

    GO - Biological processi

    1. DNA catabolic process, endonucleolytic Source: GOC
    2. DNA repair Source: Reactome
    3. negative regulation of apoptotic process Source: UniProtKB
    4. nucleotide-excision repair Source: Reactome
    5. nucleotide-excision repair, DNA damage removal Source: Reactome
    6. nucleotide-excision repair, DNA incision, 3'-to lesion Source: UniProtKB
    7. response to UV Source: UniProtKB
    8. response to UV-C Source: UniProtKB
    9. transcription-coupled nucleotide-excision repair Source: UniProtKB
    10. UV protection Source: MGI

    Keywords - Molecular functioni

    Endonuclease, Hydrolase, Nuclease

    Keywords - Biological processi

    DNA damage, DNA repair

    Keywords - Ligandi

    DNA-binding, Magnesium, Metal-binding

    Enzyme and pathway databases

    ReactomeiREACT_1941. Formation of transcription-coupled NER (TC-NER) repair complex.
    REACT_2222. Dual incision reaction in TC-NER.
    REACT_257. Formation of incision complex in GG-NER.
    REACT_311. Dual incision reaction in GG-NER.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DNA repair protein complementing XP-G cells (EC:3.1.-.-)
    Alternative name(s):
    DNA excision repair protein ERCC-5
    Xeroderma pigmentosum group G-complementing protein
    Gene namesi
    Name:ERCC5
    Synonyms:ERCM2, XPG, XPGC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:3437. ERCC5.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. intermediate filament cytoskeleton Source: HPA
    2. nucleoplasm Source: Reactome
    3. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]: 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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti72 – 721P → H in XP-G; combined with features of Cockayne syndrome. 1 Publication
    VAR_015280
    Natural varianti792 – 7921A → V in XP-G; mild form. 2 Publications
    VAR_007733
    Natural varianti858 – 8581L → P in XP-G; reduced stability and greatly impaired endonuclease activity. 1 Publication
    VAR_017097
    Natural varianti874 – 8741A → T in XP-G; mild form; residual activity. 1 Publication
    Corresponds to variant rs28929496 [ dbSNP | Ensembl ].
    VAR_017096

    Keywords - Diseasei

    Cockayne syndrome, Deafness, Disease mutation, Dwarfism, Xeroderma pigmentosum

    Organism-specific databases

    MIMi278780. phenotype.
    Orphaneti1466. COFS syndrome.
    276267. Xeroderma pigmentosum complementation group G.
    PharmGKBiPA27851.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11861186DNA repair protein complementing XP-G cellsPRO_0000154031Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei8 – 81N6-acetyllysine1 Publication
    Modified residuei384 – 3841PhosphoserineBy similarity

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiP28715.
    PaxDbiP28715.
    PRIDEiP28715.

    PTM databases

    PhosphoSiteiP28715.

    Expressioni

    Gene expression databases

    ArrayExpressiP28715.
    BgeeiP28715.
    CleanExiHS_ERCC5.
    GenevestigatoriP28715.

    Organism-specific databases

    HPAiHPA045845.
    HPA050374.

    Interactioni

    Subunit structurei

    Interacts with PCNA.1 Publication

    Protein-protein interaction databases

    BioGridi108385. 14 interactions.
    DIPiDIP-750N.
    IntActiP28715. 3 interactions.
    MINTiMINT-192239.
    STRINGi9606.ENSP00000347978.

    Structurei

    3D structure databases

    ProteinModelPortaliP28715.
    SMRiP28715. Positions 2-95, 711-977.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 9595N-domainAdd
    BLAST
    Regioni753 – 881129I-domainAdd
    BLAST
    Regioni981 – 100929Interaction with PCNAAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi1057 – 107317Nuclear localization signalSequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0258.
    HOVERGENiHBG051501.
    InParanoidiP28715.
    KOiK10846.
    OMAiHDTKVKR.
    OrthoDBiEOG72ZCD4.
    PhylomeDBiP28715.
    TreeFamiTF101235.

    Family and domain databases

    Gene3Di3.40.50.1010. 2 hits.
    InterProiIPR020045. 5-3_exonuclease_C.
    IPR008918. HhH2.
    IPR029060. PIN_domain-like.
    IPR006086. XPG-I_dom.
    IPR001044. XPG/Rad2_eukaryotes.
    IPR019974. XPG_CS.
    IPR006085. XPG_DNA_repair_N.
    [Graphical view]
    PfamiPF00867. XPG_I. 1 hit.
    PF00752. XPG_N. 1 hit.
    [Graphical view]
    PRINTSiPR00066. XRODRMPGMNTG.
    SMARTiSM00279. HhH2. 1 hit.
    SM00484. XPGI. 1 hit.
    SM00485. XPGN. 1 hit.
    [Graphical view]
    SUPFAMiSSF47807. SSF47807. 2 hits.
    SSF88723. SSF88723. 2 hits.
    TIGRFAMsiTIGR00600. rad2. 1 hit.
    PROSITEiPS00841. XPG_1. 1 hit.
    PS00842. XPG_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P28715-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGVQGLWKLL ECSGRQVSPE ALEGKILAVD ISIWLNQALK GVRDRHGNSI     50
    ENPHLLTLFH RLCKLLFFRI RPIFVFDGDA PLLKKQTLVK RRQRKDLASS 100
    DSRKTTEKLL KTFLKRQAIK TAFRSKRDEA LPSLTQVRRE NDLYVLPPLQ 150
    EEEKHSSEEE DEKEWQERMN QKQALQEEFF HNPQAIDIES EDFSSLPPEV 200
    KHEILTDMKE FTKRRRTLFE AMPEESDDFS QYQLKGLLKK NYLNQHIEHV 250
    QKEMNQQHSG HIRRQYEDEG GFLKEVESRR VVSEDTSHYI LIKGIQAKTV 300
    AEVDSESLPS SSKMHGMSFD VKSSPCEKLK TEKEPDATPP SPRTLLAMQA 350
    ALLGSSSEEE LESENRRQAR GRNAPAAVDE GSISPRTLSA IKRALDDDED 400
    VKVCAGDDVQ TGGPGAEEMR INSSTENSDE GLKVRDGKGI PFTATLASSS 450
    VNSAEEHVAS TNEGREPTDS VPKEQMSLVH VGTEAFPISD ESMIKDRKDR 500
    LPLESAVVRH SDAPGLPNGR ELTPASPTCT NSVSKNETHA EVLEQQNELC 550
    PYESKFDSSL LSSDDETKCK PNSASEVIGP VSLQETSSIV SVPSEAVDNV 600
    ENVVSFNAKE HENFLETIQE QQTTESAGQD LISIPKAVEP MEIDSEESES 650
    DGSFIEVQSV ISDEELQAEF PETSKPPSEQ GEEELVGTRE GEAPAESESL 700
    LRDNSERDDV DGEPQEAEKD AEDSLHEWQD INLEELETLE SNLLAQQNSL 750
    KAQKQQQERI AATVTGQMFL ESQELLRLFG IPYIQAPMEA EAQCAILDLT 800
    DQTSGTITDD SDIWLFGARH VYRNFFNKNK FVEYYQYVDF HNQLGLDRNK 850
    LINLAYLLGS DYTEGIPTVG CVTAMEILNE FPGHGLEPLL KFSEWWHEAQ 900
    KNPKIRPNPH DTKVKKKLRT LQLTPGFPNP AVAEAYLKPV VDDSKGSFLW 950
    GKPDLDKIRE FCQRYFGWNR TKTDESLFPV LKQLDAQQTQ LRIDSFFRLA 1000
    QQEKEDAKRI KSQRLNRAVT CMLRKEKEAA ASEIEAVSVA MEKEFELLDK 1050
    AKGKTQKRGI TNTLEESSSL KRKRLSDSKG KNTCGGFLGE TCLSESSDGS 1100
    SSEDAESSSL MNVQRRTAAK EPKTSASDSQ NSVKEAPVKN GGATTSSSSD 1150
    SDDDGGKEKM VLVTARSVFG KKRRKLRRAR GRKRKT 1186
    Length:1,186
    Mass (Da):133,108
    Last modified:September 2, 2008 - v3
    Checksum:iB0A844D617C53F2E
    GO
    Isoform 2 (identifier: P28715-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-767: Missing.

    Show »
    Length:419
    Mass (Da):47,319
    Checksum:iA26C01C3C1DFAC28
    GO
    Isoform 3 (identifier: P28715-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         225-232: ESDDFSQY → VYLPLLQP
         233-1186: Missing.

    Note: No experimental confirmation available. Includes a cryptic exon found in intron 6.

    Show »
    Length:232
    Mass (Da):27,259
    Checksum:iE2808BE7528D94F1
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti55 – 551L → P in BAA03812. (PubMed:7510366)Curated
    Sequence conflicti120 – 1223KTA → QTS in BAA03812. (PubMed:7510366)Curated
    Sequence conflicti126 – 1261K → Q in BAA03812. (PubMed:7510366)Curated
    Sequence conflicti264 – 2663RQY → SSH in BAA03812. (PubMed:7510366)Curated
    Sequence conflicti760 – 7601I → F in BAA03812. (PubMed:7510366)Curated
    Sequence conflicti796 – 7961I → V in BAA03812. (PubMed:7510366)Curated
    Sequence conflicti864 – 8729EGIPTVGCV → GNTNCGLC in BAA03812. (PubMed:7510366)Curated
    Sequence conflicti959 – 9591R → S in BAA03812. (PubMed:7510366)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti72 – 721P → H in XP-G; combined with features of Cockayne syndrome. 1 Publication
    VAR_015280
    Natural varianti145 – 1451V → I.
    Corresponds to variant rs4987063 [ dbSNP | Ensembl ].
    VAR_020431
    Natural varianti181 – 1811H → R.1 Publication
    Corresponds to variant rs4150295 [ dbSNP | Ensembl ].
    VAR_023120
    Natural varianti254 – 2541M → V.4 Publications
    Corresponds to variant rs1047769 [ dbSNP | Ensembl ].
    VAR_007732
    Natural varianti256 – 2561Q → R.1 Publication
    Corresponds to variant rs4150313 [ dbSNP | Ensembl ].
    VAR_020432
    Natural varianti311 – 3111S → C.1 Publication
    Corresponds to variant rs2307491 [ dbSNP | Ensembl ].
    VAR_014829
    Natural varianti399 – 3991E → K.1 Publication
    Corresponds to variant rs4150315 [ dbSNP | Ensembl ].
    VAR_023121
    Natural varianti529 – 5291C → S.1 Publication
    Corresponds to variant rs2227869 [ dbSNP | Ensembl ].
    VAR_020433
    Natural varianti590 – 5901V → I.1 Publication
    Corresponds to variant rs4150318 [ dbSNP | Ensembl ].
    VAR_023122
    Natural varianti597 – 5971V → L.1 Publication
    Corresponds to variant rs4150319 [ dbSNP | Ensembl ].
    VAR_023123
    Natural varianti670 – 6701F → L.
    Corresponds to variant rs1803542 [ dbSNP | Ensembl ].
    VAR_046373
    Natural varianti680 – 6801Q → R.
    Corresponds to variant rs4987168 [ dbSNP | Ensembl ].
    VAR_020434
    Natural varianti792 – 7921A → V in XP-G; mild form. 2 Publications
    VAR_007733
    Natural varianti858 – 8581L → P in XP-G; reduced stability and greatly impaired endonuclease activity. 1 Publication
    VAR_017097
    Natural varianti874 – 8741A → T in XP-G; mild form; residual activity. 1 Publication
    Corresponds to variant rs28929496 [ dbSNP | Ensembl ].
    VAR_017096
    Natural varianti879 – 8791N → S.1 Publication
    Corresponds to variant rs4150342 [ dbSNP | Ensembl ].
    VAR_020435
    Natural varianti1009 – 10091R → H.1 Publication
    Corresponds to variant rs4150387 [ dbSNP | Ensembl ].
    VAR_023124
    Natural varianti1053 – 10531G → R.6 Publications
    Corresponds to variant rs9514066 [ dbSNP | Ensembl ].
    VAR_046374
    Natural varianti1080 – 10801G → Q Requires 2 nucleotide substitutions. 1 Publication
    VAR_023125
    Natural varianti1080 – 10801G → R.6 Publications
    Corresponds to variant rs9514067 [ dbSNP | Ensembl ].
    VAR_046375
    Natural varianti1104 – 11041D → H.1 Publication
    Corresponds to variant rs17655 [ dbSNP | Ensembl ].
    VAR_007734
    Natural varianti1119 – 11191A → V.
    Corresponds to variant rs2227871 [ dbSNP | Ensembl ].
    VAR_020436

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 767767Missing in isoform 2. CuratedVSP_035380Add
    BLAST
    Alternative sequencei225 – 2328ESDDFSQY → VYLPLLQP in isoform 3. CuratedVSP_053828
    Alternative sequencei233 – 1186954Missing in isoform 3. CuratedVSP_053829Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X69978 mRNA. Translation: CAA49598.1.
    D16305 mRNA. Translation: BAA03812.1.
    L20046 mRNA. Translation: AAC37533.1.
    AF255436
    , AF255431, AF255433, AF255434, AF255435 Genomic DNA. Translation: AAF89178.1.
    AF255442
    , AF255431, AF255433, AF255434, AF255435, AF255436, AF255437, AF255438, AF255439, AF255440, AF255441 Genomic DNA. Translation: AAF89179.1.
    AF462447 mRNA. Translation: AAP97715.1.
    AF550128 Genomic DNA. Translation: AAN46091.1.
    AL157769 Genomic DNA. Translation: CAI14530.1.
    AL157769 Genomic DNA. Translation: CAI14531.1.
    BC031522 mRNA. Translation: AAH31522.1.
    X71341, X71342 Genomic DNA. Translation: CAA50481.1.
    CCDSiCCDS32004.1. [P28715-1]
    PIRiI58009.
    S35993.
    RefSeqiNP_000114.2. NM_000123.3.
    UniGeneiHs.258429.

    Genome annotation databases

    EnsembliENST00000355739; ENSP00000347978; ENSG00000134899. [P28715-1]
    ENST00000375954; ENSP00000365121; ENSG00000134899. [P28715-2]
    ENST00000535557; ENSP00000442117; ENSG00000134899. [P28715-3]
    GeneIDi2073.
    KEGGihsa:2073.
    UCSCiuc001vpw.3. human. [P28715-1]

    Polymorphism databases

    DMDMi205371791.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Allelic variations of the XP genes
    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X69978 mRNA. Translation: CAA49598.1 .
    D16305 mRNA. Translation: BAA03812.1 .
    L20046 mRNA. Translation: AAC37533.1 .
    AF255436
    , AF255431 , AF255433 , AF255434 , AF255435 Genomic DNA. Translation: AAF89178.1 .
    AF255442
    , AF255431 , AF255433 , AF255434 , AF255435 , AF255436 , AF255437 , AF255438 , AF255439 , AF255440 , AF255441 Genomic DNA. Translation: AAF89179.1 .
    AF462447 mRNA. Translation: AAP97715.1 .
    AF550128 Genomic DNA. Translation: AAN46091.1 .
    AL157769 Genomic DNA. Translation: CAI14530.1 .
    AL157769 Genomic DNA. Translation: CAI14531.1 .
    BC031522 mRNA. Translation: AAH31522.1 .
    X71341 , X71342 Genomic DNA. Translation: CAA50481.1 .
    CCDSi CCDS32004.1. [P28715-1 ]
    PIRi I58009.
    S35993.
    RefSeqi NP_000114.2. NM_000123.3.
    UniGenei Hs.258429.

    3D structure databases

    ProteinModelPortali P28715.
    SMRi P28715. Positions 2-95, 711-977.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108385. 14 interactions.
    DIPi DIP-750N.
    IntActi P28715. 3 interactions.
    MINTi MINT-192239.
    STRINGi 9606.ENSP00000347978.

    Chemistry

    BindingDBi P28715.
    ChEMBLi CHEMBL4736.

    PTM databases

    PhosphoSitei P28715.

    Polymorphism databases

    DMDMi 205371791.

    Proteomic databases

    MaxQBi P28715.
    PaxDbi P28715.
    PRIDEi P28715.

    Protocols and materials databases

    DNASUi 2073.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000355739 ; ENSP00000347978 ; ENSG00000134899 . [P28715-1 ]
    ENST00000375954 ; ENSP00000365121 ; ENSG00000134899 . [P28715-2 ]
    ENST00000535557 ; ENSP00000442117 ; ENSG00000134899 . [P28715-3 ]
    GeneIDi 2073.
    KEGGi hsa:2073.
    UCSCi uc001vpw.3. human. [P28715-1 ]

    Organism-specific databases

    CTDi 2073.
    GeneCardsi GC13P103497.
    GeneReviewsi ERCC5.
    HGNCi HGNC:3437. ERCC5.
    HPAi HPA045845.
    HPA050374.
    MIMi 133530. gene.
    278780. phenotype.
    neXtProti NX_P28715.
    Orphaneti 1466. COFS syndrome.
    276267. Xeroderma pigmentosum complementation group G.
    PharmGKBi PA27851.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0258.
    HOVERGENi HBG051501.
    InParanoidi P28715.
    KOi K10846.
    OMAi HDTKVKR.
    OrthoDBi EOG72ZCD4.
    PhylomeDBi P28715.
    TreeFami TF101235.

    Enzyme and pathway databases

    Reactomei REACT_1941. Formation of transcription-coupled NER (TC-NER) repair complex.
    REACT_2222. Dual incision reaction in TC-NER.
    REACT_257. Formation of incision complex in GG-NER.
    REACT_311. Dual incision reaction in GG-NER.

    Miscellaneous databases

    GeneWikii ERCC5.
    GenomeRNAii 2073.
    NextBioi 8433.
    PROi P28715.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P28715.
    Bgeei P28715.
    CleanExi HS_ERCC5.
    Genevestigatori P28715.

    Family and domain databases

    Gene3Di 3.40.50.1010. 2 hits.
    InterProi IPR020045. 5-3_exonuclease_C.
    IPR008918. HhH2.
    IPR029060. PIN_domain-like.
    IPR006086. XPG-I_dom.
    IPR001044. XPG/Rad2_eukaryotes.
    IPR019974. XPG_CS.
    IPR006085. XPG_DNA_repair_N.
    [Graphical view ]
    Pfami PF00867. XPG_I. 1 hit.
    PF00752. XPG_N. 1 hit.
    [Graphical view ]
    PRINTSi PR00066. XRODRMPGMNTG.
    SMARTi SM00279. HhH2. 1 hit.
    SM00484. XPGI. 1 hit.
    SM00485. XPGN. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47807. SSF47807. 2 hits.
    SSF88723. SSF88723. 2 hits.
    TIGRFAMsi TIGR00600. rad2. 1 hit.
    PROSITEi PS00841. XPG_1. 1 hit.
    PS00842. XPG_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complementation of the DNA repair defect in Xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2."
      Scherly D., Nouspikel T., Corlet J., Ucla C., Bairoch A., Clarkson S.G.
      Nature 363:182-185(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ARG-1053; ARG-1080 AND HIS-1104.
    2. "An ERCC5 gene with homology to yeast RAD2 is involved in group G Xeroderma pigmentosum."
      Shiomi T., Harada Y.-N., Saito T., Shiomi N., Okuno Y., Yamaizumi M.
      Mutat. Res. 314:167-175(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS VAL-254; ARG-1053 AND ARG-1080.
    3. "Human ERCC5 cDNA-cosmid complementation for excision repair and bipartite amino acid domains conserved with RAD proteins of Saccharomyces cerevisiae and Schizosaccharomyces pombe."
      Macinnes M.A., Dickson J.A., Hernandez R.R., Learmonth D., Lin G.Y., Mudgett J.S., Park M.S., Schauer S., Reynolds R.J., Strniste G.F., Yu J.Y.
      Mol. Cell. Biol. 13:6393-6402(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS VAL-254; ARG-1053 AND ARG-1080.
    4. "The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms."
      Emmert S., Schneider T.D., Khan S.G., Kraemer K.H.
      Nucleic Acids Res. 29:1443-1452(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORMS 1 AND 3).
    5. Zan Q., Guo J.H., Yu L.
      Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS VAL-254; ARG-1053 AND ARG-1080.
      Tissue: Bone marrow.
    6. NIEHS SNPs program
      Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-181; VAL-254; ARG-256; CYS-311; LYS-399; SER-529; ILE-590; LEU-597; SER-879; HIS-1009 AND ARG-1053; ARG-1080 AND GLN-1080.
    7. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ARG-1053 AND ARG-1080.
      Tissue: Eye.
    9. "The human gene for Xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization."
      Samec S., Jones T.A., Corlet J., Scherly D., Sheer D., Wood R.D., Clarkson S.G.
      Genomics 21:283-285(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-88.
    10. "Isolation of active recombinant XPG protein, a human DNA repair endonuclease."
      O'Donovan A., Scherly D., Clarkson S.G., Wood R.D.
      J. Biol. Chem. 269:15965-15968(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION.
    11. "XPG endonuclease makes the 3' incision in human DNA nucleotide excision repair."
      O'Donovan A., Davies A.A., Moggs J.G., West S.C., Wood R.D.
      Nature 371:432-435(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION.
    12. "Human Xeroderma pigmentosum group G gene encodes a DNA endonuclease."
      Habraken Y., Sung P., Prakash L., Prakash S.
      Nucleic Acids Res. 22:3312-3316(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION.
    13. "XPG protein has a structure-specific endonuclease activity."
      Cloud K.G., Shen B., Strniste G.F., Park M.S.
      Mutat. Res. 347:55-60(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION, SUBCELLULAR LOCATION.
    14. "The DNA repair endonuclease XPG binds to proliferating cell nuclear antigen (PCNA) and shares sequence elements with the PCNA-binding regions of FEN-1 and cyclin-dependent kinase inhibitor p21."
      Gary R., Ludwig D.L., Cornelius H.L., MacInnes M.A., Park M.S.
      J. Biol. Chem. 272:24522-24529(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PCNA.
    15. Cited for: REVIEW.
    16. "A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy."
      Cleaver J.E., Thompson L.H., Richardson A.S., States J.C.
      Hum. Mutat. 14:9-22(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS XP-G.
    17. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-8, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    18. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    19. "Mutations that disable the DNA repair gene XPG in a Xeroderma pigmentosum group G patient."
      Nouspikel T., Clarkson S.G.
      Hum. Mol. Genet. 3:963-967(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XP-G VAL-792.
    20. "A common mutational pattern in Cockayne syndrome patients from Xeroderma pigmentosum group G: implications for a second XPG function."
      Nouspikel T., Lalle P., Leadon S.A., Cooper P.K., Clarkson S.G.
      Proc. Natl. Acad. Sci. U.S.A. 94:3116-3121(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XP-G VAL-792.
    21. "Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy."
      Zafeiriou D.I., Thorel F., Andreou A., Kleijer W.J., Raams A., Garritsen V.H., Gombakis N., Jaspers N.G.J., Clarkson S.G.
      Pediatr. Res. 49:407-412(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XP-G HIS-72.
    22. "The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity."
      Lalle P., Nouspikel T., Constantinou A., Thorel F., Clarkson S.G.
      J. Invest. Dermatol. 118:344-351(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XP-G PRO-858.
    23. Cited for: VARIANT XP-G THR-874.

    Entry informationi

    Entry nameiERCC5_HUMAN
    AccessioniPrimary (citable) accession number: P28715
    Secondary accession number(s): A6NGT4
    , Q5JUS4, Q5JUS5, Q7Z2V3, Q8IZL6, Q8N1B7, Q9HD59, Q9HD60
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1993
    Last sequence update: September 2, 2008
    Last modified: October 1, 2014
    This is version 174 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 13
      Human chromosome 13: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3