ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: ERCC1provided by HGNC
Official Full Name: ERCC excision repair 1, endonuclease non-catalytic subunitprovided by HGNC
Primary source: HGNC:HGNC:3433
See related: Ensembl:ENSG00000012061 MIM:126380; AllianceGenome:HGNC:3433
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: UV20; COFS4; RAD10
Summary: 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]
Expression: Ubiquitous expression in skin (RPKM 11.1), ovary (RPKM 9.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (45407334..45451547, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (48234581..48278793, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45910592..45954805, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of ERCC1 Gene Polymorphisms (rs3212986 and rs11615) With the Risk of Lung Cancer in a Population From Southeast Iran.
Title: Association of ERCC1 Gene Polymorphisms (rs3212986 and rs11615) With the Risk of Lung Cancer in a Population From Southeast Iran.
Relationship between ERCC1 and XPC polymorphisms and the susceptibility to head and neck carcinoma: A systematic review, meta-analysis, and trial sequential analysis.
Title: Relationship between ERCC1 and XPC polymorphisms and the susceptibility to head and neck carcinoma: A systematic review, meta-analysis, and trial sequential analysis.
ERCC1 and MGMT Methylation as a Predictive Marker of Relapse and FOLFOX Response in Colorectal Cancer Patients from South Tunisia.
Title: ERCC1 and MGMT Methylation as a Predictive Marker of Relapse and FOLFOX Response in Colorectal Cancer Patients from South Tunisia.
Association of ERCC1 and XPF polymorphisms with pediatric glioma susceptibility.
Title: Association of ERCC1 and XPF polymorphisms with pediatric glioma susceptibility.
Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793, rs13181) polymorphisms of DNA repair genes in breast cancer occurrence in Burkina Faso.
Title: Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793, rs13181) polymorphisms of DNA repair genes in breast cancer occurrence in Burkina Faso.
Perspectives of ERCC1 in early-stage and advanced cervical cancer: From experiments to clinical applications.
Title: Perspectives of ERCC1 in early-stage and advanced cervical cancer: From experiments to clinical applications.
Genetic Polymorphisms in ERCC1 Gene and Their Association with Response to Radiotherapy in Moroccan Patients with Nasopharyngeal Carcinoma.
Title: Genetic Polymorphisms in ERCC1 Gene and Their Association with Response to Radiotherapy in Moroccan Patients with Nasopharyngeal Carcinoma.
Association between ERCC1 Gene Polymorphism (rs11615) and Colorectal Cancer Susceptibility: A Meta-Analysis of Medical Image Fusion and Safety Applications.
Title: Association between ERCC1 Gene Polymorphism (rs11615) and Colorectal Cancer Susceptibility: A Meta-Analysis of Medical Image Fusion and Safety Applications.
A miR-15a related polymorphism affects NSCLC prognosis via altering ERCC1 repair to platinum-based chemotherapy.
Title: A miR-15a related polymorphism affects NSCLC prognosis via altering ERCC1 repair to platinum-based chemotherapy.
Modification Effect of PARP4 and ERCC1 Gene Polymorphisms on the Relationship between Particulate Matter Exposure and Fasting Glucose Level.
Title: Modification Effect of PARP4 and ERCC1 Gene Polymorphisms on the Relationship between Particulate Matter Exposure and Fasting Glucose Level.

Submit: New GeneRIF Correction See all GeneRIFs (541)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cerebrooculofacioskeletal syndrome 4 MedGen: C1853100 OMIM: 610758 GeneReviews: Not available	Compare labs
ERCC1-Related Xeroderma Pigmentosum MedGen: CN119607 GeneReviews: Xeroderma Pigmentosum	Compare labs
Xeroderma pigmentosum MedGen: C0043346 GeneReviews: Xeroderma Pigmentosum	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of excision repair cross-complementing rodent repair deficiency, complementation group 1 (ERCC1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	Co-immunoprecipitation and glycerol-gradient sedimentation demonstrate that HIV-1 Vpr, VPRBP, DDB1, SLX4, MUS81, EME1, ERCC1, and ERCC4 form a complex	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47033 (e-PCR)
- UniSTS:82481

STS-R48186 (e-PCR)
- UniSTS:66890

ERCC1 (e-PCR)
- UniSTS:278346

NoName (e-PCR)
- UniSTS:148575

D1S1425 (e-PCR)
- UniSTS:149621

GDB:181915 (e-PCR)
- UniSTS:155335

GDB:190019 (e-PCR)
- UniSTS:155609

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to 3' overhang single-stranded DNA endodeoxyribonuclease activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables TFIID-class transcription factor complex binding	IEA Inferred from Electronic Annotation more info
enables damaged DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables damaged DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables promoter-specific chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to single-stranded DNA endodeoxyribonuclease activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in UV protection	IEA Inferred from Electronic Annotation more info
involved_in UV-damage excision repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via nonhomologous end joining	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic organ development	IEA Inferred from Electronic Annotation more info
involved_in insulin-like growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in interstrand cross-link repair	IEA Inferred from Electronic Annotation more info
involved_in isotype switching	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in mitotic recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protection from non-homologous end joining at telomere	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nucleotide-excision repair	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleotide-excision repair	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleotide-excision repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of t-circle formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription initiation by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in post-embryonic hemopoiesis	IEA Inferred from Electronic Annotation more info
involved_in pyrimidine dimer repair by nucleotide-excision repair	IEA Inferred from Electronic Annotation more info
involved_in replicative senescence	IEA Inferred from Electronic Annotation more info
involved_in response to X-ray	IEA Inferred from Electronic Annotation more info
involved_in response to cadmium ion	IEA Inferred from Electronic Annotation more info
involved_in response to immobilization stress	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to sucrose	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in syncytium formation	IEA Inferred from Electronic Annotation more info
involved_in t-circle formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in telomeric DNA-containing double minutes formation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of ERCC4-ERCC1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ERCC4-ERCC1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of ERCC4-ERCC1 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of nucleotide-excision repair complex	IDA Inferred from Direct Assay more info	PubMed
part_of nucleotide-excision repair factor 1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of nucleotide-excision repair factor 1 complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA excision repair protein ERCC-1

Names: excision repair cross-complementation group 1; excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_015839.2 RefSeqGene

Range

59912..76495

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_305

mRNA and Protein(s)

NM_001166049.2 → NP_001159521.1 DNA excision repair protein ERCC-1 isoform 3

See identical proteins and their annotated locations for NP_001159521.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 2. The resulting isoform (3) lacks an internal segment, compared to isoform 2.

Source sequence(s)

AB069681, AC092309, AK314884, BQ019990, BQ671113

Consensus CDS

CCDS54279.1

UniProtKB/TrEMBL

K7ER89

Related

ENSP00000345203.6, ENST00000340192.11

Conserved Domains (2) summary

pfam00633
Location:235 → 264

HHH; Helix-hairpin-helix motif

cd22325
Location:99 → 226

ERCC1_C-like; Central domain of ERCC1
NM_001369408.1 → NP_001356337.1 DNA excision repair protein ERCC-1 isoform 1

Status: REVIEWED

Source sequence(s)

AC139353

Consensus CDS

CCDS12663.1

Conserved Domains (2) summary

PRK00024
Location:250 → 281

PRK00024; hypothetical protein; Reviewed

pfam03834
Location:100 → 213

Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
NM_001369409.1 → NP_001356338.1 DNA excision repair protein ERCC-1 isoform 1

Status: REVIEWED

Source sequence(s)

AC139353

Consensus CDS

CCDS12663.1

Conserved Domains (2) summary

PRK00024
Location:250 → 281

PRK00024; hypothetical protein; Reviewed

pfam03834
Location:100 → 213

Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
NM_001369410.1 → NP_001356339.1 DNA excision repair protein ERCC-1 isoform 4

Status: REVIEWED

Source sequence(s)

AC139353

Conserved Domains (1) summary

pfam03834
Location:100 → 213

Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
NM_001369411.1 → NP_001356340.1 DNA excision repair protein ERCC-1 isoform 4

Status: REVIEWED

Source sequence(s)

AC139353

Conserved Domains (1) summary

pfam03834
Location:100 → 213

Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
NM_001369412.1 → NP_001356341.1 DNA excision repair protein ERCC-1 isoform 2

Status: REVIEWED

Source sequence(s)

AC092309, AC138128, AC139353

Consensus CDS

CCDS12662.1

UniProtKB/Swiss-Prot

B2RC01, B3KRR0, P07992, Q7Z7F5, Q96S40

UniProtKB/TrEMBL

K7EP14

Conserved Domains (2) summary

PRK00558
Location:251 → 291

uvrC; excinuclease ABC subunit UvrC

cd22325
Location:99 → 226

ERCC1_C-like; Central domain of ERCC1
NM_001369413.1 → NP_001356342.1 DNA excision repair protein ERCC-1 isoform 2

Status: REVIEWED

Source sequence(s)

AC092309, AC138128, AC139353

Consensus CDS

CCDS12662.1

UniProtKB/Swiss-Prot

B2RC01, B3KRR0, P07992, Q7Z7F5, Q96S40

UniProtKB/TrEMBL

K7EP14

Conserved Domains (2) summary

PRK00558
Location:251 → 291

uvrC; excinuclease ABC subunit UvrC

cd22325
Location:99 → 226

ERCC1_C-like; Central domain of ERCC1
NM_001369414.1 → NP_001356343.1 DNA excision repair protein ERCC-1 isoform 2

Status: REVIEWED

Source sequence(s)

AC092309, AC138128, AC139353

Consensus CDS

CCDS12662.1

UniProtKB/Swiss-Prot

B2RC01, B3KRR0, P07992, Q7Z7F5, Q96S40

UniProtKB/TrEMBL

K7EP14

Related

ENSP00000467183.1, ENST00000592083.5

Conserved Domains (2) summary

PRK00558
Location:251 → 291

uvrC; excinuclease ABC subunit UvrC

cd22325
Location:99 → 226

ERCC1_C-like; Central domain of ERCC1
NM_001369415.1 → NP_001356344.1 DNA excision repair protein ERCC-1 isoform 2

Status: REVIEWED

Source sequence(s)

AC092309, BM011724, BM453702, BQ227841, BT019806, CN314897

Consensus CDS

CCDS12662.1

UniProtKB/Swiss-Prot

B2RC01, B3KRR0, P07992, Q7Z7F5, Q96S40

UniProtKB/TrEMBL

K7EP14

Related

ENSP00000468035.1, ENST00000589165.5

Conserved Domains (2) summary

PRK00558
Location:251 → 291

uvrC; excinuclease ABC subunit UvrC

cd22325
Location:99 → 226

ERCC1_C-like; Central domain of ERCC1
NM_001369416.1 → NP_001356345.1 DNA excision repair protein ERCC-1 isoform 2

Status: REVIEWED

Source sequence(s)

AC092309, AC139353

Consensus CDS

CCDS12662.1

UniProtKB/Swiss-Prot

B2RC01, B3KRR0, P07992, Q7Z7F5, Q96S40

UniProtKB/TrEMBL

K7EP14

Conserved Domains (2) summary

PRK00558
Location:251 → 291

uvrC; excinuclease ABC subunit UvrC

cd22325
Location:99 → 226

ERCC1_C-like; Central domain of ERCC1
NM_001369417.1 → NP_001356346.1 DNA excision repair protein ERCC-1 isoform 3

Status: REVIEWED

Source sequence(s)

AC092309, AC138128, AC139353

Consensus CDS

CCDS54279.1

UniProtKB/TrEMBL

K7ER89

Conserved Domains (2) summary

pfam00633
Location:235 → 264

HHH; Helix-hairpin-helix motif

cd22325
Location:99 → 226

ERCC1_C-like; Central domain of ERCC1
NM_001369418.1 → NP_001356347.1 DNA excision repair protein ERCC-1 isoform 3

Status: REVIEWED

Source sequence(s)

AC092309, AC139353

Consensus CDS

CCDS54279.1

UniProtKB/TrEMBL

K7ER89

Conserved Domains (2) summary

pfam00633
Location:235 → 264

HHH; Helix-hairpin-helix motif

cd22325
Location:99 → 226

ERCC1_C-like; Central domain of ERCC1
NM_001369419.1 → NP_001356348.1 DNA excision repair protein ERCC-1 isoform 3

Status: REVIEWED

Source sequence(s)

AC092309, AC139353

Consensus CDS

CCDS54279.1

UniProtKB/TrEMBL

K7ER89

Related

ENSP00000468158.1, ENST00000592023.5

Conserved Domains (2) summary

pfam00633
Location:235 → 264

HHH; Helix-hairpin-helix motif

cd22325
Location:99 → 226

ERCC1_C-like; Central domain of ERCC1
NM_001983.4 → NP_001974.1 DNA excision repair protein ERCC-1 isoform 2

See identical proteins and their annotated locations for NP_001974.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) encodes isoform 2.

Source sequence(s)

AC092309, AK314884, BC008930, BQ019990, BQ671113

Consensus CDS

CCDS12662.1

UniProtKB/Swiss-Prot

B2RC01, B3KRR0, P07992, Q7Z7F5, Q96S40

UniProtKB/TrEMBL

K7EP14

Related

ENSP00000300853.3, ENST00000300853.8

Conserved Domains (2) summary

PRK00558
Location:251 → 291

uvrC; excinuclease ABC subunit UvrC

cd22325
Location:99 → 226

ERCC1_C-like; Central domain of ERCC1
NM_202001.3 → NP_973730.1 DNA excision repair protein ERCC-1 isoform 1

See identical proteins and their annotated locations for NP_973730.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents use of an alternate promoter and 5' UTR and uses a distinct splice pattern in the 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (1) has a longer and distinct C-terminus, compared to isoform 2.

Source sequence(s)

AC139353, AK314884, BC052813, BU627436, DB468563

Consensus CDS

CCDS12663.1

UniProtKB/Swiss-Prot

P07992

Related

ENSP00000013807.4, ENST00000013807.9

Conserved Domains (2) summary

PRK00024
Location:250 → 281

PRK00024; hypothetical protein; Reviewed

pfam03834
Location:100 → 213

Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)