ERCC1 - ERCC excision repair 1, endonuclease non-catalytic subunit Gene
Also Known as UV20; COFS4; RAD10
Species: Homo sapiens
About ERCC1
This gene has 17 transcripts (splice variants), 184 orthologues and is associated with 4 phenotypes. Ubiquitous expression in skin (RPKM 11.1), ovary (RPKM 9.5) and 25 other tissues.
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]
ERCC1 Products (15)
| mRNA | Protein | Name |
|---|---|---|
| NM_001166049.2 | NP_001159521.1 | DNA excision repair protein ERCC-1 isoform 3 |
| NM_001369408.1 | NP_001356337.1 | DNA excision repair protein ERCC-1 isoform 1 |
| NM_001369409.1 | NP_001356338.1 | DNA excision repair protein ERCC-1 isoform 1 |
| NM_001369410.1 | NP_001356339.1 | DNA excision repair protein ERCC-1 isoform 4 |
| NM_001369411.1 | NP_001356340.1 | DNA excision repair protein ERCC-1 isoform 4 |
| NM_001369412.1 | NP_001356341.1 | DNA excision repair protein ERCC-1 isoform 2 |
| NM_001369413.1 | NP_001356342.1 | DNA excision repair protein ERCC-1 isoform 2 |
| NM_001369414.1 | NP_001356343.1 | DNA excision repair protein ERCC-1 isoform 2 |
| NM_001369415.1 | NP_001356344.1 | DNA excision repair protein ERCC-1 isoform 2 |
| NM_001369416.1 | NP_001356345.1 | DNA excision repair protein ERCC-1 isoform 2 |
| NM_001369417.1 | NP_001356346.1 | DNA excision repair protein ERCC-1 isoform 3 |
| NM_001369418.1 | NP_001356347.1 | DNA excision repair protein ERCC-1 isoform 3 |
| NM_001369419.1 | NP_001356348.1 | DNA excision repair protein ERCC-1 isoform 3 |
| NM_001983.4 | NP_001974.1 | DNA excision repair protein ERCC-1 isoform 2 |
| NM_202001.3 | NP_973730.1 | DNA excision repair protein ERCC-1 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| contributes to 3' overhang single-stranded DNA endodeoxyribonuclease activity |
IMP
IMP: Inferred from mutant phenotype
|
14690602 | GOA |
| contributes to DNA binding |
IDA
IDA: Inferred from direct assay
|
14734547 | GOA |
| enables damaged DNA binding |
IDA
IDA: Inferred from direct assay
|
17720715 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
7559382 | GOA |
| enables single-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
16076955 | GOA |
| contributes to single-stranded DNA endodeoxyribonuclease activity |
IDA
IDA: Inferred from direct assay
|
7559382 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of ERCC4-ERCC1 complex |
IDA
IDA: Inferred from direct assay
|
14690602 | GOA |
| part of ERCC4-ERCC1 complex |
IPI
IPI: Inferred from physical interaction
|
16076955 | GOA |
| located in chromosome, telomeric region |
IDA
IDA: Inferred from direct assay
|
14690602 | GOA |
| part of nucleotide-excision repair complex |
IDA
IDA: Inferred from direct assay
|
3290851 | GOA |
| part of nucleotide-excision repair factor 1 complex |
IDA
IDA: Inferred from direct assay
|
10413517 | GOA |
ERCC1 Protein Structure
Rad10: Binding domain of DNA repair protein Ercc1 (rad10/Swi10) (99 - 165)
HHH: Helix-hairpin-helix motif (259 - 287)
- 0
- 100
- 200
- 297 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA excision repair protein ERCC-1 |
|
ERCC1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ERCC1 | P07992 | MKRN3 | Homo sapiens | Q6NSB6 | 25416956 | |
|
Intra
|
ERCC1 | P07992 | TRMT2B | Homo sapiens | Q96GJ1 | 25416956 | |
|
Intra
|
ERCC1 | P07992 | TRMT2B | Homo sapiens | Q96GJ1 | 25416956 | |
|
Intra
|
ERCC1 | P07992 | TRMT2B | Homo sapiens | Q96GJ1 | 25416956 | |
|
Intra
|
ERCC1 | P07992 | MKRN3 | Homo sapiens | Q13064 | 25416956 | |
|
Intra
|
ERCC1 | P07992 | SLX4 | Homo sapiens | Q8IY92 | 19596235 | |
|
Intra
|
ERCC1 | P07992 | SLX4 | Homo sapiens | Q8IY92 | 19596235 | |
|
Intra
|
ERCC1 | P07992 | ERCC4 | Homo sapiens | Q92889 | 24780295 | |
|
Intra
|
ERCC1 | P07992 | ERCC4 | Homo sapiens | Q92889 | 17289582 | |
|
Intra
|
ERCC1 | P07992 | ERCC4 | Homo sapiens | Q92889 | 16338413 | |
|
Intra
|
ERCC1 | P07992 | ERCC4 | Homo sapiens | Q92889 | 16338413 | |
|
Intra
|
ERCC1 | P07992 | ERCC4 | Homo sapiens | Q92889 | 28514442 | |
|
Intra
|
ERCC1 | P07992 | ERCC4 | Homo sapiens | Q92889 | 16338413 | |
|
Intra
|
ERCC1 | P07992 | XPA | Homo sapiens | P23025 | 25416956 | |
|
Intra
|
ERCC1 | P07992 | XPA | Homo sapiens | P23025 | 11058119 | |
|
Intra
|
ERCC1 | P07992 | EGFR | Homo sapiens | P00533 | 24780295 | |
|
Intra
|
ERCC1 | P07992 | EGFR | Homo sapiens | P00533 | 24780295 | |
|
Intra
|
ERCC1 | P07992 | EGFR | Homo sapiens | P00533 | 24780295 | |
|
Intra
|
ERCC1 | P07992 | UBL7 | Homo sapiens | Q96S82 | 25416956 | |
|
Intra
|
ERCC1 | P07992 | UBL7 | Homo sapiens | Q96S82 | 16189514 | |
|
Intra
|
ERCC1 | P07992 | VPS37B | Homo sapiens | Q9H9H4 | 25416956 | |
|
Intra
|
ERCC1 | P07992 | VPS37B | Homo sapiens | Q9H9H4 | 31515488 | |
|
Intra
|
ERCC1 | P07992 | VPS37B | Homo sapiens | Q9H9H4 | 25416956 | |
|
Intra
|
ERCC1 | P07992 | USHBP1 | Homo sapiens | Q8N6Y0 | 25416956 | |
|
Intra
|
ERCC1 | P07992 | USHBP1 | Homo sapiens | Q8N6Y0 | 25416956 |
ERCC1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80661 | ERCC1 Antibody (YA770) | WB, IHC-P, ICC/IF, IF-Tissue | Human, Mouse |
| HY-P83997 | ERCC1 Antibody (YA3694) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse |
| HY-P83997A | ERCC1 Antibody (YA3694)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse |
| HY-P85665 | ERCC1 Antibody (YA5357) | WB, IHC-P, ICC/IF, | Human |
| HY-P85792 | ERCC1 Antibody (YA5484) | WB, ICC/IF, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cerebrooculofacioskeletal Syndrome 4 |
|
|
| Cockayne Syndrome B |
|
|
| Cerebrooculofacioskeletal Syndrome 1 |
|
|
| Premature Menopause |
|
|
| Xeroderma Pigmentosum, Variant Type |
|
|
| Cockayne Syndrome |
|
|
| Cerebrooculofacioskeletal Syndrome |
|
|
| Trichothiodystrophy |
|
|
| Xeroderma Pigmentosum, Complementation Group F |
|
|
| Testicular Cancer |
|
|
| Xfe Progeroid Syndrome |
|
|
| Xeroderma Pigmentosum, Complementation Group D |
|
|
| Xeroderma Pigmentosum, Complementation Group A |
|
|
| Xeroderma Pigmentosum, Complementation Group G |
|
|
| Basal Cell Carcinoma |
|
|
| Lung Cancer |
|
|
| Xeroderma Pigmentosum, Complementation Group B |
|
|
| Cheilitis |
|
|
| Ovarian Cancer |
|
|
| Colorectal Cancer |
|
|
| Xeroderma Pigmentosum, Complementation Group C |
|
|
| Gastric Cancer |
|
|
| Cockayne Syndrome A |
|
|
| Uv-Sensitive Syndrome |
|
|
| Bladder Cancer |
|
|
| Vallecula Cancer |
|
|
| Breast Cancer |
|
|
| Testicular Disease |
|
|
| Lung Cancer Susceptibility 3 |
|
|
| Prostate Cancer |
|
|
| Microcephaly |
|
|
| Aplastic Anemia |
|
|
| Leukemia, Chronic Lymphocytic |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Lynch Syndrome |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | ERCC1 | VGNC | VGNC:28568 |
| Felis catus | ERCC1 | VGNC | VGNC:61930 |
| Rattus norvegicus | ERCC1 | RGD | RGD:1306992 |
| Canis familiaris | ERCC1 | VGNC | VGNC:40441 |
| Mus musculus | ERCC1 | MGD | MGI:95412 |
| Macaca mulatta | ERCC1 | VGNC | VGNC:72422 |
| Others | ERCC1 | NCBI |