ERCC5 (ERCC excision repair 5, endonuclease)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2073
Gene name Gene Name - the full gene name approved by the HGNC.
ERCC excision repair 5, endonuclease
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERCC5
Synonyms (NCBI Gene) Gene synonyms aliases
COFS3, ERCC5-201, ERCM2, UVDR, XPG, XPGC
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q33.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a single-strand specific DNA endonuclease that makes the 3` incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcript
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
miRTarBase ID miRNA Experiments Reference
MIRT022203 hsa-miR-124-3p Microarray 18668037
MIRT968512 hsa-miR-1185 CLIP-seq
MIRT968513 hsa-miR-1273c CLIP-seq
MIRT968514 hsa-miR-3125 CLIP-seq
MIRT968515 hsa-miR-3129-3p CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
E2F1 Activation 17893230
YY1 Activation 17893230
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(47)
GO ID Ontology Definition Evidence Reference
GO:0000109 Component Nucleotide-excision repair complex IDA 11259578
GO:0000405 Function Bubble DNA binding IDA 16246722, 32821917
GO:0000724 Process Double-strand break repair via homologous recombination IMP 26833090
GO:0000993 Function RNA polymerase II complex binding IDA 16246722
GO:0003677 Function DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
133530 3437 ENSG00000134899
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P28715
Protein name DNA excision repair protein ERCC-5 (EC 3.1.-.-) (DNA repair protein complementing XP-G cells) (XPG) (Xeroderma pigmentosum group G-complementing protein)
Protein function Single-stranded structure-specific DNA endonuclease involved in DNA excision repair (PubMed:32522879, PubMed:32821917, PubMed:7651464, PubMed:8078765, PubMed:8090225, PubMed:8206890). Makes the 3'incision in DNA nucleotide excision repair (NER)
PDB 5EKF , 5EKG , 6TUR , 6TUS , 6TUW , 6TUX , 6VBH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00752 XPG_N 1 → 98 XPG N-terminal domain Family
PF00867 XPG_I 777 → 861 XPG I-region Family
Sequence 
MGVQGLWKLLECSGRQVSPEALEGKILAVDISIWLNQALKGVRDRHGNSIENPHLLTLFH
RLCKLLFFRIRPIFVFDGDAPLLKKQTLVKRRQRKDLASSDSRKTTEKLLKTFLKRQAIK
TAFRSKRDEALPSLTQVRRENDLYVLPPLQEEEKHSSEEEDEKEWQERMNQKQALQEEFF
HNPQAIDIESEDFSSLPPEVKHEILTDMKEFTKRRRTLFEAMPEESDDFSQYQLKGLLKK
NYLNQHIEHVQKEMNQQHSGHIRRQYEDEGGFLKEVESRRVVSEDTSHYILIKGIQAKTV
AEVDSESLPSSSKMHGMSFDVKSSPCEKLKTEKEPDATPPSPRTLLAMQAALLGSSSEEE
LESENRRQARGRNAPAAVDEGSISPRTLSAIKRALDDDEDVKVCAGDDVQTGGPGAEEMR
INSSTENSDEGLKVRDGKGIPFTATLASSSVNSAEEHVASTNEGREPTDSVPKEQMSLVH
VGTEAFPISDESMIKDRKDRLPLESAVVRHSDAPGLPNGRELTPASPTCTNSVSKNETHA
EVLEQQNELCPYESKFDSSLLSSDDETKCKPNSASEVIGPVSLQETSSIVSVPSEAVDNV
ENVVSFNAKEHENFLETIQEQQTTESAGQDLISIPKAVEPMEIDSEESESDGSFIEVQSV
ISDEELQAEFPETSKPPSEQGEEELVGTREGEAPAESESLLRDNSERDDVDGEPQEAEKD
AEDSLHEWQDINLEELETLESNLLAQQNSLKAQKQQQERIAATVTGQMFLESQELLRLFG
IPYIQAPMEAEAQCAILDLTDQTSGTITDDSDIWLFGARHVYRNFFNKNKFVEYYQYVDF
HNQLGLDRNKLINLAYLLGSDYTEGIPTVGCVTAMEILNEFPGHGLEPLLKFSEWWHEAQ
KNPKIRPNPHDTKVKKKLRTLQLTPGFPNPAVAEAYLKPVVDDSKGSFLWGKPDLDKIRE
FCQRYFGWNRTKTDESLFPVLKQLDAQQTQLRIDSFFRLAQQEKEDAKRIKSQRLNRAVT
CMLRKEKEAAASEIEAVSVAMEKEFELLDKAKGKTQKRGITNTLEESSSLKRKRLSDSKG
KNTCGGFLGETCLSESSDGSSSEDAESSSLMNVQRRTAAKEPKTSASDSQNSVKEAPVKN
GGATTSSSSDSDDDGGKEKMVLVTARSVFGKKRRKLRRARGRKRKT
Sequence length 1186
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Nucleotide excision repair   Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cerebrooculofacioskeletal Syndrome cerebrooculofacioskeletal syndrome 3 rs2140538834, rs760232640 N/A
Xeroderma Pigmentosum xeroderma pigmentosum, group g, Xeroderma pigmentosum group G/Cockayne syndrome, xeroderma pigmentosum rs121434577, rs121434571, rs267607281, rs267607280, rs121434572, rs121434573, rs1283214655, rs121434574, rs1244074570, rs121434575, rs786200919, rs1595382501, rs786200920, rs752661599, rs121434570 N/A
Xeroderma Pigmentosum-Cockayne Syndrome Complex xeroderma pigmentosum-cockayne syndrome complex rs1242579404 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
COFS Syndrome COFS syndrome N/A N/A GenCC
ovarian cancer Ovarian cancer N/A N/A ClinVar
Show/Hide Text Mining Associations (106)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 37006075
Blood Coagulation Disorders Inherited Associate 29482223
Breast Neoplasms Associate 18701435, 18767034, 21700777, 23330005, 23852586, 26045839, 35691022, 35763649, 40535424
Breast Neoplasms Inhibit 23852586
Bronchitis Chronic Associate 29506519
Carcinogenesis Associate 26130668
Carcinoma Bronchogenic Associate 16255782
Carcinoma Ductal Breast Associate 39237917
Carcinoma Hepatocellular Associate 26967386, 32812509
Carcinoma Merkel Cell Associate 25531179