ENSG00000158828


Homo sapiens

Features
Gene ID: ENSG00000158828
  
Biological name :PINK1
  
Synonyms : PINK1 / PTEN induced putative kinase 1 / Q9BXM7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p36.12
Gene start: 20633455
Gene end: 20651511
  
Corresponding Affymetrix probe sets: 209018_s_at (Human Genome U133 Plus 2.0 Array)   209019_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000364204
NCBI entrez gene - 65018     See in Manteia.
OMIM - 608309
RefSeq - NM_032409
RefSeq Peptide - NP_115785
swissprot - Q9BXM7
Ensembl - ENSG00000158828
  
Related genetic diseases (OMIM): 605909 - Parkinson disease 6, early onset, 605909
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pink1ENSDARG00000001929Danio rerio
 PINK1ENSGALG00000037593Gallus gallus
 Pink1ENSMUSG00000028756Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000422 autophagy of mitochondrion IMP
 biological_processGO:0001934 positive regulation of protein phosphorylation IDA
 biological_processGO:0002082 regulation of oxidative phosphorylation IDA
 biological_processGO:0002931 response to ischemia IEA
 biological_processGO:0006468 protein phosphorylation TAS
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process TAS
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0006979 response to oxidative stress IGI
 biological_processGO:0007005 mitochondrion organization IMP
 biological_processGO:0010310 regulation of hydrogen peroxide metabolic process IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0010821 regulation of mitochondrion organization IMP
 biological_processGO:0010952 positive regulation of peptidase activity TAS
 biological_processGO:0016236 macroautophagy TAS
 biological_processGO:0016239 positive regulation of macroautophagy IMP
 biological_processGO:0016242 negative regulation of macroautophagy IMP
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0016567 protein ubiquitination IMP
 biological_processGO:0018105 peptidyl-serine phosphorylation TAS
 biological_processGO:0022904 respiratory electron transport chain IEA
 biological_processGO:0031396 regulation of protein ubiquitination IDA
 biological_processGO:0031398 positive regulation of protein ubiquitination ISS
 biological_processGO:0032148 activation of protein kinase B activity IC
 biological_processGO:0032226 positive regulation of synaptic transmission, dopaminergic IEA
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation TAS
 biological_processGO:0033603 positive regulation of dopamine secretion IEA
 biological_processGO:0033605 positive regulation of catecholamine secretion IEA
 biological_processGO:0034599 cellular response to oxidative stress IEA
 biological_processGO:0035307 positive regulation of protein dephosphorylation IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0036289 peptidyl-serine autophosphorylation TAS
 biological_processGO:0038203 TORC2 signaling IC
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IDA
 biological_processGO:0043254 regulation of protein complex assembly IDA
 biological_processGO:0043523 regulation of neuron apoptotic process IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0045727 positive regulation of translation IEA
 biological_processGO:0046329 negative regulation of JNK cascade TAS
 biological_processGO:0050821 protein stabilization IEA
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity IEA
 biological_processGO:0051443 positive regulation of ubiquitin-protein transferase activity TAS
 biological_processGO:0051881 regulation of mitochondrial membrane potential IMP
 biological_processGO:0051897 positive regulation of protein kinase B signaling IC
 biological_processGO:0061136 regulation of proteasomal protein catabolic process NAS
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0072655 establishment of protein localization to mitochondrion IMP
 biological_processGO:0072656 maintenance of protein location in mitochondrion IMP
 biological_processGO:0090141 positive regulation of mitochondrial fission IEA
 biological_processGO:0090200 positive regulation of release of cytochrome c from mitochondria IMP
 biological_processGO:0090258 negative regulation of mitochondrial fission IMP
 biological_processGO:0097237 cellular response to toxic substance IEA
 biological_processGO:0098779 positive regulation of mitophagy in response to mitochondrial depolarization IMP
 biological_processGO:0099074 mitochondrion to lysosome transport IMP
 biological_processGO:1900407 regulation of cellular response to oxidative stress IMP
 biological_processGO:1901215 negative regulation of neuron death IEA
 biological_processGO:1901727 positive regulation of histone deacetylase activity IEA
 biological_processGO:1902803 regulation of synaptic vesicle transport TAS
 biological_processGO:1902902 negative regulation of autophagosome assembly IMP
 biological_processGO:1902958 positive regulation of mitochondrial electron transport, NADH to ubiquinone IEA
 biological_processGO:1903146 regulation of autophagy of mitochondrion TAS
 biological_processGO:1903147 negative regulation of autophagy of mitochondrion IMP
 biological_processGO:1903202 negative regulation of oxidative stress-induced cell death IDA
 biological_processGO:1903204 negative regulation of oxidative stress-induced neuron death TAS
 biological_processGO:1903214 regulation of protein targeting to mitochondrion IDA
 biological_processGO:1903298 negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway IEA
 biological_processGO:1903384 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway IMP
 biological_processGO:1903751 negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide IDA
 biological_processGO:1903852 positive regulation of cristae formation IMP
 biological_processGO:1903955 positive regulation of protein targeting to mitochondrion IMP
 biological_processGO:1904544 positive regulation of free ubiquitin chain polymerization ISS
 biological_processGO:1904783 positive regulation of NMDA glutamate receptor activity IEA
 biological_processGO:1904881 cellular response to hydrogen sulfide IEA
 biological_processGO:1904925 positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization IEA
 biological_processGO:2000377 regulation of reactive oxygen species metabolic process IMP
 biological_processGO:2000378 negative regulation of reactive oxygen species metabolic process IMP
 biological_processGO:2001171 positive regulation of ATP biosynthetic process TAS
 biological_processGO:2001243 negative regulation of intrinsic apoptotic signaling pathway IDA
 cellular_componentGO:0000151 ubiquitin ligase complex ISS
 cellular_componentGO:0000785 chromatin IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005739 mitochondrion IMP
 cellular_componentGO:0005741 mitochondrial outer membrane IMP
 cellular_componentGO:0005742 mitochondrial outer membrane translocase complex IMP
 cellular_componentGO:0005743 mitochondrial inner membrane IDA
 cellular_componentGO:0005758 mitochondrial intermembrane space IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IDA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030424 axon IDA
 cellular_componentGO:0030426 growth cone IEA
 cellular_componentGO:0031307 integral component of mitochondrial outer membrane IDA
 cellular_componentGO:0031932 TORC2 complex IPI
 cellular_componentGO:0044297 cell body IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0097413 Lewy body TAS
 cellular_componentGO:0097449 astrocyte projection IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000287 magnesium ion binding IEA
 molecular_functionGO:0002020 protease binding TAS
 molecular_functionGO:0004672 protein kinase activity IMP
 molecular_functionGO:0004674 protein serine/threonine kinase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IDA
 molecular_functionGO:0010857 calcium-dependent protein kinase activity IDA
 molecular_functionGO:0016301 kinase activity NAS
 molecular_functionGO:0016504 peptidase activator activity TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IEA
 molecular_functionGO:0043422 protein kinase B binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0055131 C3HC4-type RING finger domain binding IPI


Pathways (from Reactome)
Pathway description
Pink/Parkin Mediated Mitophagy


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000012 Urinary urgency 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000726 Dementia 
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 HP:0000739 Anxiety 
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 HP:0001300 Parkinsonism 
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0002063 Rigidity 
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 HP:0002067 Bradykinesia "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators]
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 HP:0002172 Postural instability 
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 HP:0002322 Resting tremor "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [HPO:curators]
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 HP:0003593 Early onset 
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 HP:0003677 Slow progression 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000185345 PRKN / O60260 / parkin RBR E3 ubiquitin protein ligase  / reaction / complex






 

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