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PINK1 PTEN induced putative kinase 1 [ Homo sapiens (human) ]

Gene ID: 65018, updated on 13-Sep-2014
Official Symbol
PINK1provided by HGNC
Official Full Name
PTEN induced putative kinase 1provided by HGNC
Primary source
HGNC:HGNC:14581
See related
Ensembl:ENSG00000158828; HPRD:10514; MIM:608309; Vega:OTTHUMG00000002841
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BRPK; PARK6
Summary
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]
See PINK1 in Epigenomics, MapViewer
Location:
1p36
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (20633455..20651511)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (20959948..20978004)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 43, member B Neighboring gene cytidine deaminase Neighboring gene microRNA 6084 Neighboring gene PINK1 antisense RNA Neighboring gene dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) Neighboring gene kinesin family member 17

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Parkinson's disease, organism-specific biosystem (from KEGG)
    Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
  • Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
    Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ27236

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
C3HC4-type RING finger domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcium-dependent protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
kinase activity NAS
Non-traceable Author Statement
more info
 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
peptidase activator activity TAS
Traceable Author Statement
more info
 
protease binding IPI
Inferred from Physical Interaction
more info
 
protease binding TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase B binding IDA
Inferred from Direct Assay
more info
 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
TORC2 signaling IC
Inferred by Curator
more info
 
activation of protein kinase B activity IC
Inferred by Curator
more info
 
cell death IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia IMP
Inferred from Mutant Phenotype
more info
 
cellular response to toxic substance IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion degradation IMP
Inferred from Mutant Phenotype
more info
 
mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
 
negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of oxidative stress-induced cell death IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of oxidative stress-induced neuron death TAS
Traceable Author Statement
more info
 
negative regulation of reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
phosphorylation NAS
Non-traceable Author Statement
more info
 
positive regulation of I-kappaB kinase/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of dopamine secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mitochondrial electron transport, NADH to ubiquinone TAS
Traceable Author Statement
more info
 
positive regulation of peptidase activity TAS
Traceable Author Statement
more info
 
positive regulation of peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
 
positive regulation of protein kinase B signaling IC
Inferred by Curator
more info
 
positive regulation of release of cytochrome c from mitochondria IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of synaptic transmission, dopaminergic IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation TAS
Traceable Author Statement
more info
 
protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
 
regulation of mitochondrial membrane potential IGI
Inferred from Genetic Interaction
more info
 
regulation of mitochondrial membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitochondrion degradation TAS
Traceable Author Statement
more info
 
regulation of protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of reactive oxygen species metabolic process IGI
Inferred from Genetic Interaction
more info
 
regulation of reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
 
regulation of synaptic vesicle transport TAS
Traceable Author Statement
more info
 
response to oxidative stress IGI
Inferred from Genetic Interaction
more info
 
response to stress IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Lewy body TAS
Traceable Author Statement
more info
 
colocalizes_with TORC2 complex IPI
Inferred from Physical Interaction
more info
 
astrocyte projection IDA
Inferred from Direct Assay
more info
PubMed 
axon IDA
Inferred from Direct Assay
more info
PubMed 
cell body IDA
Inferred from Direct Assay
more info
PubMed 
chromatin IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
integral component of mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
serine/threonine-protein kinase PINK1, mitochondrial
Names
serine/threonine-protein kinase PINK1, mitochondrial
protein kinase BRPK
PTEN-induced putative kinase protein 1
NP_115785.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008164.1 

    Range
    5001..23057
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032409.2NP_115785.1  serine/threonine-protein kinase PINK1, mitochondrial precursor

    See proteins identical to NP_115785.1

    Status: REVIEWED

    Source sequence(s)
    AB053323, AL391357
    Consensus CDS
    CCDS211.1
    UniProtKB/Swiss-Prot
    Q9BXM7
    Related
    ENSP00000364204, OTTHUMP00000002881, ENST00000321556, OTTHUMT00000007954
    Conserved Domains (1) summary
    cd00180
    Location:271501
    Blast Score: 218
    PKc; Catalytic domain of Protein Kinases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    20633455..20651511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    19206074..19224136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    21070747..21088823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)