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

ERCC1

ERCC1

protein_coding 19 45,407,333 - 45,479,055 PDO SQLite primary read-only query mode

Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000012061

Gene type
protein_coding

Chromosome
19

Coordinates
45,407,333 - 45,479,055

Strand
-

Status
not available

NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

2067 CCDS12662 CCDS12663 CCDS54279 ENST00000300853.8 NM_001983 NM_001983.4 P07992 RAD10 excision repair cross-complementation group 1 excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)

Summary

GENCODE gene_type=protein_coding; HGNC symbol=ERCC1; HGNC name=ERCC excision repair 1; alias_count=12; RefSeq=NM_001983; UniProt=P07992; MANE Select=ENST00000300853.8,NM_001983.4

Source: GENCODE + HGNC complete set

2067 • protein-coding

The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]

NCBI Gene

UniProt

P07992 • reviewed

Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4 Not functional in the nucleotide excision repair pathway

DNA excision repair protein ERCC-1 · Nucleus; Cytoplasm

P07992 • reviewed

Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4 Not functional in the nucleotide excision repair pathway

DNA excision repair protein ERCC-1 · Nucleus; Cytoplasm

P07992 • reviewed

Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4 Not functional in the nucleotide excision repair pathway

DNA excision repair protein ERCC-1 · Nucleus; Cytoplasm

P07992 • reviewed

Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4 Not functional in the nucleotide excision repair pathway

DNA excision repair protein ERCC-1 · Nucleus; Cytoplasm

P07992 • reviewed

Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4 Not functional in the nucleotide excision repair pathway

DNA excision repair protein ERCC-1 · Nucleus; Cytoplasm

GO annotations

Biological process

GO:0006310 DNA recombination (IEA)
GO:0006281 DNA repair (IMP)
GO:0006281 DNA repair (IEA)
GO:0070914 UV-damage excision repair (IBA)
GO:0006302 double-strand break repair (IEA)
GO:0006303 double-strand break repair via nonhomologous end joining (IMP)
GO:0006312 mitotic recombination (IMP)
GO:0006312 mitotic recombination (IBA)
GO:1905765 negative regulation of protection from non-homologous end joining at telomere (IMP)
GO:0032205 negative regulation of telomere maintenance (IMP)

+ 13 more

Cellular component

GO:0070522 ERCC4-ERCC1 complex (IDA)
GO:0070522 ERCC4-ERCC1 complex (IPI)
GO:0070522 ERCC4-ERCC1 complex (IDA)
GO:0070522 ERCC4-ERCC1 complex (IBA)
GO:0000781 chromosome, telomeric region (IDA)
GO:0005737 cytoplasm (IEA)
GO:0005737 cytoplasm (EXP)
GO:0005654 nucleoplasm (IDA)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)

+ 20 more

Molecular function

GO:1990599 3' overhang single-stranded DNA endonuclease activity (IMP)
GO:0003677 DNA binding (IDA)
GO:0001094 TFIID-class transcription factor complex binding (IEA)
GO:0003684 damaged DNA binding (IEA)
GO:0003684 damaged DNA binding (IDA)
GO:0003684 damaged DNA binding (IBA)
GO:1990841 promoter-specific chromatin binding (IEA)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)

+ 38 more

Representative

Representative transcript
ENST00000013807

Representative protein
ENSP00000013807.4

Representative type
CCDS

Candidate count
23

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID	Name	Type	Status	Protein	Location
ENST00000340192	ERCC1-203	protein_coding	not available	ENSP00000345203.6	19:45,407,333 - 45,423,926 -
ENST00000423698	ERCC1-204	protein_coding	not available	ENSP00000394875.2	19:45,407,333 - 45,479,055 -
ENST00000589165	ERCC1-208	protein_coding	not available	ENSP00000468035.1	19:45,407,333 - 45,424,478 -
ENST00000591636	ERCC1-212	protein_coding	not available	ENSP00000468119.1	19:45,407,333 - 45,423,594 -
ENST00000899224	ERCC1-219	protein_coding	not available	ENSP00000569283.1	19:45,407,333 - 45,479,055 -
ENST00000899225	ERCC1-220	protein_coding	not available	ENSP00000569284.1	19:45,407,333 - 45,479,055 -
ENST00000899226	ERCC1-221	protein_coding	not available	ENSP00000569285.1	19:45,407,333 - 45,423,926 -
ENST00000899227	ERCC1-222	protein_coding	not available	ENSP00000569286.1	19:45,407,333 - 45,424,478 -
ENST00000899228	ERCC1-223	protein_coding	not available	ENSP00000569287.1	19:45,407,333 - 45,423,926 -
ENST00000899229	ERCC1-224	protein_coding	not available	ENSP00000569288.1	19:45,407,333 - 45,423,926 -
ENST00000899230	ERCC1-225	protein_coding	not available	ENSP00000569289.1	19:45,407,333 - 45,423,594 -
ENST00000899231	ERCC1-226	protein_coding	not available	ENSP00000569290.1	19:45,407,333 - 45,423,594 -
ENST00000899232	ERCC1-227	protein_coding	not available	ENSP00000569291.1	19:45,407,333 - 45,423,594 -
ENST00000899233	ERCC1-228	protein_coding	not available	ENSP00000569292.1	19:45,407,333 - 45,424,478 -
ENST00000899234	ERCC1-229	protein_coding	not available	ENSP00000569293.1	19:45,407,333 - 45,424,478 -
ENST00000899235	ERCC1-230	protein_coding	not available	ENSP00000569294.1	19:45,407,333 - 45,424,478 -
ENST00000899236	ERCC1-231	protein_coding	not available	ENSP00000569295.1	19:45,407,333 - 45,424,478 -
ENST00000899237	ERCC1-232	protein_coding	not available	ENSP00000569296.1	19:45,407,333 - 45,423,926 -
ENST00000899238	ERCC1-233	protein_coding	not available	ENSP00000569297.1	19:45,407,333 - 45,423,926 -
ENST00000899239	ERCC1-234	protein_coding	not available	ENSP00000569298.1	19:45,407,333 - 45,424,478 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

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ClinVar disease associations

ClinVar disease associations: 0

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