Human Gene PINK1 (ENST00000321556.5) from GENCODE V44
Description: Homo sapiens PTEN induced kinase 1 (PINK1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_032409) RefSeq Summary (NM_032409): 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]. Gencode Transcript: ENST00000321556.5 Gencode Gene: ENSG00000158828.8 Transcript (Including UTRs) Position: hg38 chr1:20,633,458-20,651,511 Size: 18,054 Total Exon Count: 8 Strand: + Coding Region Position: hg38 chr1:20,633,549-20,650,691 Size: 17,143 Coding Exon Count: 8
ID:PINK1_HUMAN DESCRIPTION: RecName: Full=Serine/threonine-protein kinase PINK1, mitochondrial; EC=2.7.11.1; AltName: Full=BRPK; AltName: Full=PTEN-induced putative kinase protein 1; Flags: Precursor; FUNCTION: Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy). It is necessary for PARK2 recruitment to dysfunctional mitochondria to initiate their degradation. CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein. COFACTOR: Magnesium. SUBUNIT: Interacts with PARK2. INTERACTION: Q8IXI2:RHOT1; NbExp=3; IntAct=EBI-2846068, EBI-1396430; SUBCELLULAR LOCATION: Mitochondrion outer membrane; Single-pass membrane protein. Cytoplasm, cytosol. TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle and testis, and at lower levels in brain, placenta, liver, kidney, pancreas, prostate, ovary and small intestine. Present in the embryonic testis from an early stage of development. PTM: Autophosphorylation at Ser-228 and Ser-402 is essential for Parkin/PARK2 recruitment to depolarized mitochondria. DISEASE: Defects in PINK1 are the cause of Parkinson disease type 6 (PARK6) [MIM:605909]. A neurodegenerative disorder characterized by parkinsonian signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifest additional symptoms including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptoms show diurnal fluctuation and can improve after sleep. SIMILARITY: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. SIMILARITY: Contains 1 protein kinase domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PINK1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BXM7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000422 mitophagy GO:0001934 positive regulation of protein phosphorylation GO:0002082 regulation of oxidative phosphorylation GO:0002931 response to ischemia 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:0010952 positive regulation of peptidase activity GO:0016236 macroautophagy GO:0016239 positive regulation of macroautophagy GO:0016242 negative regulation of macroautophagy GO:0016310 phosphorylation GO:0016567 protein ubiquitination GO:0018105 peptidyl-serine phosphorylation GO:0022904 respiratory electron transport chain GO:0031396 regulation of protein ubiquitination GO:0031398 positive regulation of protein ubiquitination 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:0043066 negative regulation of apoptotic process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043254 regulation of protein complex assembly GO:0043523 regulation of neuron apoptotic process GO:0043524 negative regulation of neuron apoptotic process GO:0045727 positive regulation of translation GO:0046329 negative regulation of JNK cascade GO:0050821 protein stabilization GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051443 positive regulation of ubiquitin-protein transferase activity GO:0051881 regulation of mitochondrial membrane potential GO:0051897 positive regulation of protein kinase B signaling 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: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:0098779 mitophagy in response to mitochondrial depolarization GO:0099074 mitochondrion to lysosome transport GO:1900407 regulation of cellular response to oxidative stress GO:1901215 negative regulation of neuron death 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 mitophagy GO:1903147 negative regulation of mitophagy 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:1904881 cellular response to hydrogen sulfide GO:1904925 positive regulation of mitophagy 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
AB053323 - Homo sapiens PINK1 mRNA for PTEN induced putative kinase 1, complete cds. LF383922 - JP 2014500723-A/191425: Polycomb-Associated Non-Coding RNAs. MA619499 - JP 2018138019-A/191425: Polycomb-Associated Non-Coding RNAs. AF316873 - Homo sapiens protein kinase BRPK mRNA, complete cds. JD195872 - Sequence 176896 from Patent EP1572962. JD473789 - Sequence 454813 from Patent EP1572962. DQ891033 - Synthetic construct clone IMAGE:100003663; FLH168697.01X; RZPDo839C0394D PTEN induced putative kinase 1 (PINK1) gene, encodes complete protein. DQ893330 - Synthetic construct clone IMAGE:100005960; FLH196238.01X; RZPDo839G02154D PTEN induced putative kinase 1 (PINK1) gene, encodes complete protein. DQ894212 - Synthetic construct Homo sapiens clone IMAGE:100008672; FLH168693.01L; RZPDo839C0393D PTEN induced putative kinase 1 (PINK1) gene, encodes complete protein. DQ896646 - Synthetic construct Homo sapiens clone IMAGE:100011106; FLH196234.01L; RZPDo839G02153D PTEN induced putative kinase 1 (PINK1) gene, encodes complete protein. BC028215 - Homo sapiens PTEN induced putative kinase 1, mRNA (cDNA clone MGC:39860 IMAGE:5214483), complete cds. AB384405 - Synthetic construct DNA, clone: pF1KSDB1510, Homo sapiens PINK1 gene for serine/threonine-protein kinase PINK1, complete cds, without stop codon, in Flexi system. HZ482421 - JP 2015535430-A/2927: TERMINALLY MODIFIED RNA. HZ792352 - JP 2016504050-A/4097: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES. JC515084 - Sequence 5337 from Patent WO2014113089. LF161537 - JP 2016513950-A/1603: Oligomers with improved off-target profile. LQ072672 - Sequence 2996 from Patent EP2964234. MA646173 - JP 2017113010-A/4097: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES. MA734057 - JP 2017140048-A/2927: TERMINALLY MODIFIED RNA. DQ579744 - Homo sapiens piRNA piR-47856, complete sequence. AK093117 - Homo sapiens cDNA FLJ35798 fis, clone TESTI2005908, highly similar to Homo sapiens hyaluronidase (LUCA-3) mRNA. AX747934 - Sequence 1459 from Patent EP1308459. LF357125 - JP 2014500723-A/164628: Polycomb-Associated Non-Coding RNAs. MA592702 - JP 2018138019-A/164628: Polycomb-Associated Non-Coding RNAs. AK130746 - Homo sapiens cDNA FLJ27236 fis, clone SYN07450, highly similar to Homo sapiens PTEN induced putative kinase 1 (PINK1). DQ578319 - Homo sapiens piRNA piR-46431, complete sequence. LF357124 - JP 2014500723-A/164627: Polycomb-Associated Non-Coding RNAs. MA592701 - JP 2018138019-A/164627: Polycomb-Associated Non-Coding RNAs. BC009534 - Homo sapiens PTEN induced putative kinase 1, mRNA (cDNA clone IMAGE:3891886), partial cds. AK075225 - Homo sapiens cDNA FLJ90744 fis, clone PLACE1011364, weakly similar to MYOTONIN-PROTEIN KINASE (EC 2.7.1.-). JD261206 - Sequence 242230 from Patent EP1572962. JD498348 - Sequence 479372 from Patent EP1572962. JD181372 - Sequence 162396 from Patent EP1572962. JD493883 - Sequence 474907 from Patent EP1572962. JD088360 - Sequence 69384 from Patent EP1572962. JD543886 - Sequence 524910 from Patent EP1572962. JD133096 - Sequence 114120 from Patent EP1572962. JD380811 - Sequence 361835 from Patent EP1572962. JD332669 - Sequence 313693 from Patent EP1572962. JD166293 - Sequence 147317 from Patent EP1572962. MA803226 - JP 2018183181-A/4097: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa05012 - Parkinson's disease
Reactome (by CSHL, EBI, and GO)
Protein Q9BXM7 (Reactome details) participates in the following event(s):
R-HSA-5205681 Pink1 is cleaved on healthy mitochondria R-HSA-5205661 Pink1 is recruited from the cytoplasm to the mitochondria R-HSA-5205652 Pink1 recruits Parkin to the outer mitochondrial membrane. R-HSA-5205672 Uncleaved Pink1 accumulates in damaged mitochondria R-HSA-5205682 Parkin promotes the ubiquitination of mitochondrial substrates R-HSA-5205685 Pink/Parkin Mediated Mitophagy R-HSA-5205647 Mitophagy