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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
q13.32
Chromosome location (bp)
45407334 - 45478828
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
[Isoform 1]: 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....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
P07992 [Direct mapping] DNA excision repair protein ERCC-1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000109[nucleotide-excision repair complex] GO:0000110[nucleotide-excision repair factor 1 complex] GO:0000710[meiotic mismatch repair] GO:0000781[chromosome, telomeric region] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003697[single-stranded DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006312[mitotic recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0006979[response to oxidative stress] GO:0008022[protein C-terminus binding] GO:0019904[protein domain specific binding] GO:0032205[negative regulation of telomere maintenance] GO:0061819[telomeric DNA-containing double minutes formation] GO:0070522[ERCC4-ERCC1 complex] GO:0070914[UV-damage excision repair] GO:0090656[t-circle formation] GO:1904431[positive regulation of t-circle formation] GO:1905765[negative regulation of protection from non-homologous end joining at telomere] GO:1990599[3' overhang single-stranded DNA endodeoxyribonuclease activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000109[nucleotide-excision repair complex] GO:0000110[nucleotide-excision repair factor 1 complex] GO:0000710[meiotic mismatch repair] GO:0000720[pyrimidine dimer repair by nucleotide-excision repair] GO:0000781[chromosome, telomeric region] GO:0001094[TFIID-class transcription factor complex binding] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003697[single-stranded DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006302[double-strand break repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006310[DNA recombination] GO:0006312[mitotic recombination] GO:0006949[syncytium formation] GO:0006974[cellular response to DNA damage stimulus] GO:0006979[response to oxidative stress] GO:0007281[germ cell development] GO:0007283[spermatogenesis] GO:0007584[response to nutrient] GO:0008022[protein C-terminus binding] GO:0008283[cell population proliferation] GO:0008584[male gonad development] GO:0009650[UV protection] GO:0009744[response to sucrose] GO:0010165[response to X-ray] GO:0010259[multicellular organism aging] GO:0019904[protein domain specific binding] GO:0032205[negative regulation of telomere maintenance] GO:0035166[post-embryonic hemopoiesis] GO:0035264[multicellular organism growth] GO:0035902[response to immobilization stress] GO:0036297[interstrand cross-link repair] GO:0045190[isotype switching] GO:0046686[response to cadmium ion] GO:0048468[cell development] GO:0048477[oogenesis] GO:0048568[embryonic organ development] GO:0051276[chromosome organization] GO:0060261[positive regulation of transcription initiation by RNA polymerase II] GO:0061819[telomeric DNA-containing double minutes formation] GO:0070522[ERCC4-ERCC1 complex] GO:0070914[UV-damage excision repair] GO:0090399[replicative senescence] GO:0090656[t-circle formation] GO:1904431[positive regulation of t-circle formation] GO:1905765[negative regulation of protection from non-homologous end joining at telomere] GO:1990599[3' overhang single-stranded DNA endodeoxyribonuclease activity] GO:1990841[promoter-specific chromatin binding]
P07992 [Direct mapping] DNA excision repair protein ERCC-1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000109[nucleotide-excision repair complex] GO:0000110[nucleotide-excision repair factor 1 complex] GO:0000710[meiotic mismatch repair] GO:0000781[chromosome, telomeric region] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003697[single-stranded DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006312[mitotic recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0006979[response to oxidative stress] GO:0008022[protein C-terminus binding] GO:0019904[protein domain specific binding] GO:0032205[negative regulation of telomere maintenance] GO:0061819[telomeric DNA-containing double minutes formation] GO:0070522[ERCC4-ERCC1 complex] GO:0070914[UV-damage excision repair] GO:0090656[t-circle formation] GO:1904431[positive regulation of t-circle formation] GO:1905765[negative regulation of protection from non-homologous end joining at telomere] GO:1990599[3' overhang single-stranded DNA endodeoxyribonuclease activity]
P07992 [Direct mapping] DNA excision repair protein ERCC-1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000109[nucleotide-excision repair complex] GO:0000110[nucleotide-excision repair factor 1 complex] GO:0000710[meiotic mismatch repair] GO:0000781[chromosome, telomeric region] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003697[single-stranded DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006312[mitotic recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0006979[response to oxidative stress] GO:0008022[protein C-terminus binding] GO:0019904[protein domain specific binding] GO:0032205[negative regulation of telomere maintenance] GO:0061819[telomeric DNA-containing double minutes formation] GO:0070522[ERCC4-ERCC1 complex] GO:0070914[UV-damage excision repair] GO:0090656[t-circle formation] GO:1904431[positive regulation of t-circle formation] GO:1905765[negative regulation of protection from non-homologous end joining at telomere] GO:1990599[3' overhang single-stranded DNA endodeoxyribonuclease activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000109[nucleotide-excision repair complex] GO:0000110[nucleotide-excision repair factor 1 complex] GO:0000710[meiotic mismatch repair] GO:0000781[chromosome, telomeric region] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003697[single-stranded DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006312[mitotic recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0006979[response to oxidative stress] GO:0008022[protein C-terminus binding] GO:0019904[protein domain specific binding] GO:0032205[negative regulation of telomere maintenance] GO:0061819[telomeric DNA-containing double minutes formation] GO:0070522[ERCC4-ERCC1 complex] GO:0070914[UV-damage excision repair] GO:0090656[t-circle formation] GO:1904431[positive regulation of t-circle formation] GO:1905765[negative regulation of protection from non-homologous end joining at telomere] GO:1990599[3' overhang single-stranded DNA endodeoxyribonuclease activity]
K7EK97 [Direct mapping] DNA excision repair protein ERCC-1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
K7ES46 [Direct mapping] DNA excision repair protein ERCC-1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
K7EMT9 [Direct mapping] DNA excision repair protein ERCC-1
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SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
K7ER60 [Direct mapping] DNA excision repair protein ERCC-1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
K7ER89 [Direct mapping] DNA excision repair protein ERCC-1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
K7EP14 [Direct mapping] DNA excision repair protein ERCC-1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
K7EJW9 [Direct mapping] DNA excision repair protein ERCC-1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
