Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

ERCC5

protein_coding 13 102,845,831 - 102,875,995 PDO SQLite primary read-only query mode

Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000134899

Gene type
protein_coding

Chromosome
13

Coordinates
102,845,831 - 102,875,995

Strand
+

Status
not available

NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

2073 CCDS32004 Cockayne syndrome ENST00000652225.2 ERCM2 NM_000123 NM_000123.4 P28715 XPGC excision repair cross-complementation group 5 excision repair cross-complementing rodent repair deficiency, complementation group 5 xeroderma pigmentosum, complementation group G

Summary

GENCODE gene_type=protein_coding; HGNC symbol=ERCC5; HGNC name=ERCC excision repair 5; alias_count=14; RefSeq=NM_000123; UniProt=P28715; MANE Select=ENST00000652225.2,NM_000123.4

Source: GENCODE + HGNC complete set

2073 • protein-coding

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 transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]

NCBI Gene

UniProt

P28715 • reviewed

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) (PubMed:32522879, PubMed:32821917, PubMed:8078765, PubMed:8090225). Binds and bends DNA repair bubble substrate and breaks base stacking at the single-strand/double-strand DNA junction of the DNA bubble (PubMed:32522879). Plays a role in base excision repair (BER) by promoting the binding of DNA glycosylase NTHL1 to its substrate and increasing NTHL1 catalytic activity that removes oxidized pyrimidines from DNA (PubMed:9927729). Involved in transcription-coupled nucleotide excision repair (TCR) which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes (PubMed:16246722). Functions during the initial step of TCR in cooperation with ERCC6/CSB to recognized stalled RNA polymerase II (PubMed:16246722). Also, stimulates ERCC6/CSB binding to the DNA repair bubble and ERCC6/CSB ATPase activity (PubMed:16246722). Required for DNA replication fork maintenance and preservation of genomic stability (PubMed:26833090, PubMed:32522879). Involved in homologous recombination repair (HRR) induced by DNA replication stress by recruiting RAD51, BRCA2, and PALB2 to the damaged DNA site (PubMed:26833090). In TFIIH stimulates the 5'-3' helicase activity of XPD/ERCC2 and the DNA translocase activity of XPB/ERCC3 (PubMed:31253769). During HRR, binds to the replication fork with high specificity and stabilizes it (PubMed:32522879). Also, acts upstream of HRR, to promote the release of BRCA1 from DNA (PubMed:26833090)

DNA excision repair protein ERCC-5 · Nucleus; Chromosome

GO annotations

Biological process

GO:0006310 DNA recombination (IEA)
GO:0006285 base-excision repair, AP site formation (IDA)
GO:0000724 double-strand break repair via homologous recombination (IMP)
GO:0043066 negative regulation of apoptotic process (IMP)
GO:0006289 nucleotide-excision repair (IEA)
GO:0006289 nucleotide-excision repair (IEA)
GO:0006289 nucleotide-excision repair (IDA)
GO:0006289 nucleotide-excision repair (IDA)
GO:0006289 nucleotide-excision repair (IDA)
GO:0006289 nucleotide-excision repair (IMP)

+ 8 more

Cellular component

GO:0005662 DNA replication factor A complex (IDA)
GO:0005694 chromosome (IEA)
GO:0005694 chromosome (EXP)
GO:0005654 nucleoplasm (IDA)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)

+ 13 more

Molecular function

GO:0003677 DNA binding (IEA)
GO:0004520 DNA endonuclease activity (IEA)
GO:0004520 DNA endonuclease activity (IDA)
GO:0004520 DNA endonuclease activity (IDA)
GO:0004520 DNA endonuclease activity (TAS)
GO:0004520 DNA endonuclease activity (TAS)
GO:0004520 DNA endonuclease activity (IBA)
GO:0000993 RNA polymerase II complex binding (IDA)
GO:0000405 bubble DNA binding (IDA)
GO:0000405 bubble DNA binding (IDA)

+ 28 more

Representative

Representative transcript
ENST00000652225

Representative protein
ENSP00000498881.2

Representative type
CCDS

Candidate count
3

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=NA

Transcript FASTA Protein FASTA

Transcripts

Transcript ID	Name	Type	Status	Protein	Location
ENST00000651002	ERCC5-207	nonsense_mediated_decay	not available	ENSP00000498809.1	13:102,845,831 - 102,875,982 +
ENST00000535557	ERCC5-206	protein_coding_CDS_not_defined	not available	not available	13:102,845,841 - 102,858,937 +
ENST00000872814	ERCC5-219	protein_coding	not available	ENSP00000542873.1	13:102,845,849 - 102,875,995 +
ENST00000958785	ERCC5-220	protein_coding	not available	ENSP00000628844.1	13:102,845,849 - 102,875,995 +
ENST00000958786	ERCC5-221	protein_coding	not available	ENSP00000628845.1	13:102,845,849 - 102,875,995 +
ENST00000991065	ERCC5-223	protein_coding	not available	ENSP00000660882.1	13:102,845,849 - 102,875,995 +
ENST00001131589	ERCC5-228	protein_coding	not available	ENSP00000815220.1	13:102,845,849 - 102,875,995 +
ENST00000991064	ERCC5-222	nonsense_mediated_decay	not available	ENSP00000660881.1	13:102,845,856 - 102,875,995 +
ENST00000652613	ERCC5-213	protein_coding	not available	ENSP00000498357.1	13:102,845,867 - 102,875,995 +
ENST00001023510	ERCC5-226	nonsense_mediated_decay	not available	ENSP00000693327.1	13:102,845,867 - 102,875,994 +
ENST00000683246	ERCC5-216	retained_intron	not available	not available	13:102,845,905 - 102,875,974 +
ENST00000682632	ERCC5-214	retained_intron	not available	not available	13:102,846,026 - 102,875,974 +
ENST00000652225	ERCC5-212	protein_coding	not available	ENSP00000498881.2	13:102,846,032 - 102,875,995 +
ENST00000682869	ERCC5-215	retained_intron	not available	not available	13:102,846,033 - 102,875,972 +
ENST00000684184	ERCC5-218	retained_intron	not available	not available	13:102,846,036 - 102,859,874 +
ENST00000991066	ERCC5-224	nonsense_mediated_decay	not available	ENSP00000660883.1	13:102,846,037 - 102,875,991 +
ENST00000472151	ERCC5-203	nonsense_mediated_decay	not available	ENSP00000436083.1	13:102,846,049 - 102,853,872 +
ENST00001023513	ERCC5-227	nonsense_mediated_decay	not available	ENSP00000693330.1	13:102,846,076 - 102,875,994 +
ENST00000991067	ERCC5-225	nonsense_mediated_decay	not available	ENSP00000660884.1	13:102,846,084 - 102,856,080 +
ENST00000375958	ERCC5-202	retained_intron	not available	not available	13:102,846,112 - 102,853,933 +

FASTA

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ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.