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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).
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
p36.12
Chromosome location (bp)
20633458 - 20651511
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Serine/threonine-protein kinase which protects against mitochondrial dysfunction during cellular stress by phosphorylating mitochondrial proteins such as PRKN and DNM1L, to coordinate mitochondrial quality control mechanisms that remove and replace dysfunctional mitochondrial components 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20. Depending on the severity of mitochondrial damage and/or dysfunction, activity ranges from preventing apoptosis and stimulating mitochondrial biogenesis to regulating mitochondrial dynamics and eliminating severely damaged mitochondria via mitophagy 21,22,23,24,25,26,27,28,29,30. Mediates the translocation and activation of PRKN at the outer membrane (OMM) of dysfunctional/depolarized mitochondria 31,32,33,34,35,36,37,38,39. At the OMM of damaged mitochondria, phosphorylates pre-existing polyubiquitin chains at 'Ser-65', the PINK1-phosphorylated polyubiquitin then recruits PRKN from the cytosol to the OMM where PRKN is fully activated by phosphorylation at 'Ser-65' by PINK1 40,41,42,43,44,45,46,47,48. In damaged mitochondria, mediates the decision between mitophagy or preventing apoptosis by promoting PRKN-dependent poly-or monoubiquitination of VDAC1; polyubiquitination of VDAC1 by PRKN promotes mitophagy, while monoubiquitination of VDAC1 by PRKN decreases mitochondrial calcium influx which ultimately inhibits apoptosis 49. When cellular stress results in irreversible mitochondrial damage, functions with PRKN to promote clearance of damaged mitochondria via selective autophagy (mitophagy) 50,51,52,53,54,55. The PINK1-PRKN pathway also promotes fission of damaged mitochondria by phosphorylating and thus promoting the PRKN-dependent degradation of mitochondrial proteins involved in fission such as MFN2 56,57,58. This prevents the refusion of unhealthy mitochondria with the mitochondrial network or initiates mitochondrial fragmentation facilitating their later engulfment by autophagosomes 59,60. Also promotes mitochondrial fission independently of PRKN and ATG7-mediated mitophagy, via the phosphorylation and activation of DNM1L 61,62. Regulates motility of damaged mitochondria by promoting the ubiquitination and subsequent degradation of MIRO1 and MIRO2; in motor neurons, this likely inhibits mitochondrial intracellular anterograde transport along the axons which probably increases the chance of the mitochondria undergoing mitophagy in the soma 63. Required for ubiquinone reduction by mitochondrial complex I by mediating phosphorylation of complex I subunit NDUFA10 (By similarity). Phosphorylates LETM1, positively regulating its mitochondrial calcium transport activity 64....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [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 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.
Enzymes ENZYME proteins Transferases Kinases MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000166[nucleotide binding] GO:0000287[magnesium ion binding] GO:0000422[autophagy of mitochondrion] GO:0000423[mitophagy] GO:0000785[chromatin] GO:0001934[positive regulation of protein phosphorylation] GO:0002020[protease binding] GO:0002082[regulation of oxidative phosphorylation] GO:0002931[response to ischemia] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005743[mitochondrial inner membrane] GO:0005758[mitochondrial intermembrane space] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0006468[protein phosphorylation] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006914[autophagy] GO:0006979[response to oxidative stress] GO:0007005[mitochondrion organization] GO:0010310[regulation of hydrogen peroxide metabolic process] GO:0010629[negative regulation of gene expression] GO:0010821[regulation of mitochondrion organization] GO:0010857[calcium-dependent protein kinase activity] GO:0010952[positive regulation of peptidase activity] GO:0014046[dopamine secretion] GO:0016020[membrane] GO:0016239[positive regulation of macroautophagy] GO:0016242[negative regulation of macroautophagy] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016504[peptidase activator activity] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0018105[peptidyl-serine phosphorylation] GO:0022904[respiratory electron transport chain] GO:0030097[hemopoiesis] GO:0030424[axon] GO:0030426[growth cone] GO:0031396[regulation of protein ubiquitination] GO:0031398[positive regulation of protein ubiquitination] GO:0031625[ubiquitin protein ligase binding] GO:0032148[activation of protein kinase B activity] GO:0032226[positive regulation of synaptic transmission, dopaminergic] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0033603[positive regulation of dopamine secretion] GO:0033605[positive regulation of catecholamine secretion] GO:0034599[cellular response to oxidative stress] GO:0035307[positive regulation of protein dephosphorylation] GO:0035556[intracellular signal transduction] GO:0036289[peptidyl-serine autophosphorylation] GO:0038203[TORC2 signaling] GO:0042981[regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043254[regulation of protein-containing complex assembly] GO:0043422[protein kinase B binding] GO:0043523[regulation of neuron apoptotic process] GO:0043524[negative regulation of neuron apoptotic process] GO:0044297[cell body] GO:0044877[protein-containing complex binding] GO:0045727[positive regulation of translation] GO:0046329[negative regulation of JNK cascade] GO:0046872[metal ion binding] GO:0048471[perinuclear region of cytoplasm] GO:0050432[catecholamine secretion] GO:0050821[protein stabilization] GO:0050896[response to stimulus] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051171[regulation of nitrogen compound metabolic process] GO:0051443[positive regulation of ubiquitin-protein transferase activity] GO:0051649[establishment of localization in cell] GO:0051881[regulation of mitochondrial membrane potential] GO:0051897[positive regulation of protein kinase B signaling] GO:0055131[C3HC4-type RING finger domain binding] GO:0060255[regulation of macromolecule metabolic process] GO:0061136[regulation of proteasomal protein catabolic process] GO:0071456[cellular response to hypoxia] GO:0072655[establishment of protein localization to mitochondrion] GO:0072656[maintenance of protein location in mitochondrion] GO:0080090[regulation of primary metabolic process] GO:0090141[positive regulation of mitochondrial fission] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0090258[negative regulation of mitochondrial fission] GO:0097237[cellular response to toxic substance] GO:0097413[Lewy body] GO:0097449[astrocyte projection] GO:0098779[positive regulation of mitophagy in response to mitochondrial depolarization] GO:0099074[mitochondrion to lysosome transport] GO:0106310[protein serine kinase activity] GO:1900407[regulation of cellular response to oxidative stress] GO:1901215[negative regulation of neuron death] GO:1901525[negative regulation of mitophagy] GO:1901727[positive regulation of histone deacetylase activity] GO:1902803[regulation of synaptic vesicle transport] GO:1902902[negative regulation of autophagosome assembly] GO:1902958[positive regulation of mitochondrial electron transport, NADH to ubiquinone] GO:1903146[regulation of autophagy of mitochondrion] GO:1903202[negative regulation of oxidative stress-induced cell death] GO:1903204[negative regulation of oxidative stress-induced neuron death] GO:1903214[regulation of protein targeting to mitochondrion] GO:1903298[negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway] GO:1903384[negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway] GO:1903751[negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide] GO:1903852[positive regulation of cristae formation] GO:1903955[positive regulation of protein targeting to mitochondrion] GO:1904544[positive regulation of free ubiquitin chain polymerization] GO:1904783[positive regulation of NMDA glutamate receptor activity] GO:1904841[TORC2 complex binding] GO:1904881[cellular response to hydrogen sulfide] GO:1904925[positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization] GO:2000377[regulation of reactive oxygen species metabolic process] GO:2000378[negative regulation of reactive oxygen species metabolic process] GO:2001171[positive regulation of ATP biosynthetic process] GO:2001243[negative regulation of intrinsic apoptotic signaling pathway]
The Human Protein Atlas project is funded
