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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 Enzymes Human disease related genes Potential drug targets
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
1
Cytoband
p34.1
Chromosome location (bp)
45329163 - 45340893
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 oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Glycosidase, Hydrolase
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.
4Fe-4S, Iron, Iron-sulfur, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]...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.
E5KP28 [Target identity:100%; Query identity:100%] Adenine DNA glycosylase
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Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
E5KP26 [Target identity:100%; Query identity:100%] Adenine DNA glycosylase
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Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
E5KP27 [Target identity:100%; Query identity:100%] Adenine DNA glycosylase
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Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
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GO:0006284[base-excision repair] GO:0016798[hydrolase activity, acting on glycosyl bonds]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
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GO:0000701[purine-specific mismatch base pair DNA N-glycosylase activity] GO:0006281[DNA repair] GO:0006284[base-excision repair] GO:0006974[cellular response to DNA damage stimulus] GO:0008152[metabolic process] GO:0016787[hydrolase activity] GO:0016798[hydrolase activity, acting on glycosyl bonds] GO:0046872[metal ion binding] GO:0051539[4 iron, 4 sulfur cluster binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
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GO:0000701[purine-specific mismatch base pair DNA N-glycosylase activity] GO:0003824[catalytic activity] GO:0006281[DNA repair] GO:0006284[base-excision repair] GO:0006974[cellular response to DNA damage stimulus] GO:0008152[metabolic process] GO:0016787[hydrolase activity] GO:0016798[hydrolase activity, acting on glycosyl bonds] GO:0046872[metal ion binding] GO:0051536[iron-sulfur cluster binding] GO:0051539[4 iron, 4 sulfur cluster binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
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GO:0000701[purine-specific mismatch base pair DNA N-glycosylase activity] GO:0006281[DNA repair] GO:0006284[base-excision repair] GO:0006974[cellular response to DNA damage stimulus] GO:0008152[metabolic process] GO:0016787[hydrolase activity] GO:0016798[hydrolase activity, acting on glycosyl bonds] GO:0046872[metal ion binding] GO:0051539[4 iron, 4 sulfur cluster binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
A0A5F9ZI14 [Direct mapping] Adenine DNA glycosylase
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
E5KP26 [Target identity:100%; Query identity:100%] Adenine DNA glycosylase
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Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Digestive system diseases Gastrointestinal diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
