ERCC5 (ERCC excision repair 5, endonuclease)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2073
Gene name ERCC excision repair 5, endonuclease
Gene symbol ERCC5
Synonyms (NCBI Gene)
COFS3ERCC5-201ERCM2UVDRXPGXPGC
Chromosome 13
Chromosome location 13q33.1
Summary 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.
20
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 Transcription factors information provided by TRRUST V2 database.
2
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
E2F1 Activation 17893230
YY1 Activation 17893230
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
133530 3437 ENSG00000134899
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebrooculofacioskeletal syndrome 3 Pathogenic; Likely pathogenic rs1882701423, rs1325131028, rs756420203, rs759551120, rs760232640, rs121434571, rs2140538834, rs786200919, rs752661599, rs2501542886, rs1283214655 RCV001329034
RCV001582367
RCV002503310
RCV006262010
RCV002308604
View all (7 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ERCC5-related disorder Pathogenic; Likely pathogenic rs2501529754, rs2501534251 RCV003393208
RCV003901439
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatoblastoma Likely pathogenic rs2140527110 RCV001843893
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer Likely pathogenic rs1180157198, rs2501509040 RCV003154756
RCV003154765
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (14)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CEREBELLAR ATROPHY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRO-OCULO-FACIO-SKELETAL SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COFS SYNDROME — CTD, Orphanet
CTD, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (237)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 27624071
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 16284370
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis multiplex congenita BEFREE 24700531
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis multiplex congenita HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 25400036
★★★★★
★☆☆☆☆
Found in Text Mining only
Basal cell carcinoma Carcinoma CGI_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 16537713, 21426550, 21647780, 23246108, 24061640
★★★★★
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Inherited Blood coagulation disorder Pubtator 29482223 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only