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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
16
Cytoband
p13.12
Chromosome location (bp)
13920138 - 13952348
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Endonuclease, Hydrolase, Nuclease
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Magnesium
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 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 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.
Q92889 [Direct mapping] DNA repair endonuclease XPF
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A0A1W1GSK9 [Target identity:100%; Query identity:100%] DNA repair endonuclease XPF; Excision repair cross-complementing rodent repair deficiency, complementation group 4, isoform CRA_a
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MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cardiovascular diseases Hematologic diseases Congenital malformations Congenital malformations of skin Other congenital malformations Nervous system diseases Neurodegenerative 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:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000109[nucleotide-excision repair complex] GO:0000110[nucleotide-excision repair factor 1 complex] GO:0000712[resolution of meiotic recombination intermediates] GO:0000723[telomere maintenance] GO:0000724[double-strand break repair via homologous recombination] 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:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0004520[endodeoxyribonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006295[nucleotide-excision repair, DNA incision, 3'-to lesion] GO:0006296[nucleotide-excision repair, DNA incision, 5'-to lesion] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006974[cellular response to DNA damage stimulus] GO:0008022[protein C-terminus binding] GO:0009411[response to UV] GO:0009650[UV protection] GO:0010506[regulation of autophagy] GO:0016787[hydrolase activity] GO:0032205[negative regulation of telomere maintenance] GO:0034644[cellular response to UV] GO:0042802[identical protein binding] GO:0047485[protein N-terminus binding] GO:0061819[telomeric DNA-containing double minutes formation] GO:0070522[ERCC4-ERCC1 complex] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:1901255[nucleotide-excision repair involved in interstrand cross-link repair] GO:1904357[negative regulation of telomere maintenance via telomere lengthening] GO:1905765[negative regulation of protection from non-homologous end joining at telomere] GO:1905768[negative regulation of double-stranded telomeric DNA binding] GO:1990599[3' overhang single-stranded DNA endodeoxyribonuclease activity] GO:1990841[promoter-specific chromatin binding]
Q92889 [Direct mapping] DNA repair endonuclease XPF
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A0A1W1GSP5 [Target identity:100%; Query identity:100%] DNA repair endonuclease XPF
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MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cardiovascular diseases Hematologic diseases Congenital malformations Congenital malformations of skin Other congenital malformations Nervous system diseases Neurodegenerative diseases 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:0000712[resolution of meiotic recombination intermediates] GO:0000723[telomere maintenance] GO:0000724[double-strand break repair via homologous recombination] GO:0000781[chromosome, telomeric region] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003697[single-stranded DNA binding] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0004520[endodeoxyribonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006295[nucleotide-excision repair, DNA incision, 3'-to lesion] GO:0006296[nucleotide-excision repair, DNA incision, 5'-to lesion] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006974[cellular response to DNA damage stimulus] GO:0008022[protein C-terminus binding] GO:0009411[response to UV] GO:0016787[hydrolase activity] GO:0032205[negative regulation of telomere maintenance] GO:0034644[cellular response to UV] GO:0042802[identical protein binding] GO:0047485[protein N-terminus binding] GO:0061819[telomeric DNA-containing double minutes formation] GO:0070522[ERCC4-ERCC1 complex] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:1901255[nucleotide-excision repair involved in interstrand cross-link repair] GO:1904357[negative regulation of telomere maintenance via telomere lengthening] GO:1905765[negative regulation of protection from non-homologous end joining at telomere] GO:1905768[negative regulation of double-stranded telomeric DNA binding] GO:1990599[3' overhang single-stranded DNA endodeoxyribonuclease activity]
The Human Protein Atlas project is funded
