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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).
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
9
Cytoband
q34.11
Chromosome location (bp)
128818500 - 128822676
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Endonuclease that preferentially catalyzes the cleavage of double-stranded 5-hydroxymethylcytosine (5hmC)-modified DNA 1. The 5hmC-modified nucleotide does not increase the binding affinity, but instead increases the efficiency of cutting and specifies the site of cleavage for the modified DNAs (By similarity). Shows significantly higher affinity for four-stranded Holliday junction over duplex and single-stranded DNAs (By similarity). Promotes conservative recombination when the DNA is 5hmC-modified 2. Promotes autophagy through the suppression of mTOR by its phosphorylation-mediated interaction with YWHAG and its endonuclease activity-mediated DNA damage response 3. GSK3-beta mediated phosphorylation of ENDOG enhances its interaction with YWHAG, leading to the release of TSC2 and PIK3C3 from YWHAG resulting in mTOR pathway suppression and autophagy initiation 4. Promotes cleavage of mtDNA in response to oxidative and nitrosative stress, in turn inducing compensatory mtDNA replication 5....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Endonuclease, Hydrolase, Nuclease
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Magnesium, Manganese, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a nuclear encoded endonuclease that is localized in the mitochondrion. The encoded protein is widely distributed among animals and cleaves DNA at GC tracts. This protein is capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA. [provided by RefSeq, Jul 2008]...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.
Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins Predicted intracellular proteins Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000287[magnesium ion binding] GO:0001701[in utero embryonic development] GO:0003676[nucleic acid binding] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0004520[endodeoxyribonuclease activity] GO:0004521[endoribonuclease activity] GO:0004536[deoxyribonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005829[cytosol] GO:0006309[apoptotic DNA fragmentation] GO:0006310[DNA recombination] GO:0007568[aging] GO:0009612[response to mechanical stimulus] GO:0010508[positive regulation of autophagy] GO:0016787[hydrolase activity] GO:0032007[negative regulation of TOR signaling] GO:0032043[mitochondrial DNA catabolic process] GO:0032355[response to estradiol] GO:0034599[cellular response to oxidative stress] GO:0034612[response to tumor necrosis factor] GO:0036475[neuron death in response to oxidative stress] GO:0042803[protein homodimerization activity] GO:0043065[positive regulation of apoptotic process] GO:0043204[perikaryon] GO:0046677[response to antibiotic] GO:0046872[metal ion binding] GO:0071277[cellular response to calcium ion] GO:0071333[cellular response to glucose stimulus] GO:0071456[cellular response to hypoxia] GO:0090297[positive regulation of mitochondrial DNA replication] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0090502[RNA phosphodiester bond hydrolysis, endonucleolytic] GO:1901300[positive regulation of hydrogen peroxide-mediated programmed cell death] GO:1902512[positive regulation of apoptotic DNA fragmentation] GO:2001022[positive regulation of response to DNA damage stimulus]
The Human Protein Atlas project is funded
