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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 Plasma proteins
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
10
Cytoband
q11.23
Chromosome location (bp)
49454168 - 49539538
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses. This response is almost completely suppressed in the presence of ERCC6. In the presence of ERCC6, regulates the expression of genes involved in metabolism regulation, including IGFBP5 and IGFBP7. In vitro binds to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterized by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF. [P0DP91] Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes 1,2,3. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA 4. It is required for transcription-coupled repair complex formation 5. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the sites of RNA polymerase II-blocking lesions 6. Plays an important role in regulating the choice of the DNA double-strand breaks (DSBs) repair pathway and G2/M checkpoint activation; DNA-dependent ATPase activity is essential for this function 7. Regulates the DNA repair pathway choice by inhibiting non-homologous end joining (NHEJ), thereby promoting the homologous recombination (HR)-mediated repair of DSBs during the S/G2 phases of the cell cycle 8. Mediates the activation of the ATM- and CHEK2-dependent DNA damage responses thus preventing premature entry of cells into mitosis following the induction of DNA DSBs 9. Acts as a chromatin remodeler at DSBs; DNA-dependent ATPase-dependent activity is essential for this function. Remodels chromatin by evicting histones from chromatin flanking DSBs, limiting RIF1 accumulation at DSBs thereby promoting BRCA1-mediated HR 10. Required for stable recruitment of ELOA and CUL5 to DNA damage sites 11. Involved in UV-induced translocation of ERCC8 to the nuclear matrix 12. Essential for neuronal differentiation and neuritogenesis; regulates transcription and chromatin remodeling activities required during neurogenesis 13. [Q03468] ...show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Helicase, Hydrolase [Q03468]
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair, Neurogenesis, Transcription, Transcription regulation [Q03468]
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding [Q03468]
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]...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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q03468 [Direct mapping] DNA excision repair protein ERCC-6
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Eye disease Reproductive system diseases Reproductive system diseases Skin diseases Skin and soft tissue diseases 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:0000012[single strand break repair] GO:0000077[DNA damage checkpoint signaling] GO:0000166[nucleotide binding] GO:0000303[response to superoxide] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0004386[helicase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0006281[DNA repair] GO:0006283[transcription-coupled nucleotide-excision repair] GO:0006284[base-excision repair] GO:0006290[pyrimidine dimer repair] GO:0006338[chromatin remodeling] GO:0006362[transcription elongation by RNA polymerase I] GO:0006366[transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0006979[response to oxidative stress] GO:0007254[JNK cascade] GO:0007399[nervous system development] GO:0008022[protein C-terminus binding] GO:0008023[transcription elongation factor complex] GO:0008094[ATP-dependent activity, acting on DNA] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0009411[response to UV] GO:0009636[response to toxic substance] GO:0010165[response to X-ray] GO:0010224[response to UV-B] GO:0010332[response to gamma radiation] GO:0016787[hydrolase activity] GO:0016887[ATP hydrolysis activity] GO:0022008[neurogenesis] GO:0030182[neuron differentiation] GO:0030296[protein tyrosine kinase activator activity] GO:0031175[neuron projection development] GO:0032784[regulation of DNA-templated transcription elongation] GO:0032786[positive regulation of DNA-templated transcription, elongation] GO:0034243[regulation of transcription elongation by RNA polymerase II] GO:0035066[positive regulation of histone acetylation] GO:0035264[multicellular organism growth] GO:0042262[DNA protection] GO:0044877[protein-containing complex binding] GO:0045494[photoreceptor cell maintenance] GO:0045739[positive regulation of DNA repair] GO:0045943[positive regulation of transcription by RNA polymerase I] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0045945[positive regulation of transcription by RNA polymerase III] GO:0047485[protein N-terminus binding] GO:0060261[positive regulation of transcription initiation by RNA polymerase II] GO:0090734[site of DNA damage] GO:0097680[double-strand break repair via classical nonhomologous end joining] GO:0110016[B-WICH complex] GO:0140658[ATP-dependent chromatin remodeler activity] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2001033[negative regulation of double-strand break repair via nonhomologous end joining]
P0DP91 [Direct mapping] Chimeric ERCC6-PGBD3 protein
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MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Eye disease Reproductive system diseases Reproductive system diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0002230[positive regulation of defense response to virus by host] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0010628[positive regulation of gene expression] GO:0016604[nuclear body] GO:0033141[positive regulation of peptidyl-serine phosphorylation of STAT protein] GO:0043565[sequence-specific DNA binding] GO:0045739[positive regulation of DNA repair]
D6R9X7 [Direct mapping] Chimeric ERCC6-PGBD3 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Eye disease Reproductive system diseases Reproductive system diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
P0DP91 [Direct mapping] Chimeric ERCC6-PGBD3 protein
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MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Eye disease Reproductive system diseases Reproductive system diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0002230[positive regulation of defense response to virus by host] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0010628[positive regulation of gene expression] GO:0016604[nuclear body] GO:0033141[positive regulation of peptidyl-serine phosphorylation of STAT protein] GO:0043565[sequence-specific DNA binding] GO:0045739[positive regulation of DNA repair]
A0A7P0TA32 [Direct mapping] Chimeric ERCC6-PGBD3 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Eye disease Reproductive system diseases Reproductive system diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
A0A7P0T9G4 [Direct mapping] Chimeric ERCC6-PGBD3 protein
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Eye disease Reproductive system diseases Reproductive system diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
