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PINK1 (PTEN induced putative kinase 1)

Identity

Other namesBRPK
PARK6
HGNC (Hugo) PINK1
LocusID (NCBI) 65018
Atlas_Id 41720
Location 1p36.12
Location_base_pair Starts at 20959948 and ends at 20978004 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)PINK1   14581
Cards
Entrez_Gene (NCBI)PINK1  65018  PTEN induced putative kinase 1
GeneCards (Weizmann)PINK1
Ensembl hg19 (Hinxton)ENSG00000158828 [Gene_View]  chr1:20959948-20978004 [Contig_View]  PINK1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000158828 [Gene_View]  chr1:20959948-20978004 [Contig_View]  PINK1 [Vega]
ICGC DataPortalENSG00000158828
TCGA cBioPortalPINK1
AceView (NCBI)PINK1
Genatlas (Paris)PINK1
WikiGenes65018
SOURCE (Princeton)PINK1
Genomic and cartography
GoldenPath hg19 (UCSC)PINK1  -     chr1:20959948-20978004 +  1p36.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PINK1  -     1p36.12   [Description]    (hg38-Dec_2013)
EnsemblPINK1 - 1p36.12 [CytoView hg19]  PINK1 - 1p36.12 [CytoView hg38]
Mapping of homologs : NCBIPINK1 [Mapview hg19]  PINK1 [Mapview hg38]
OMIM605909   608309   
Gene and transcription
Genbank (Entrez)AB053323 AF316873 AK075225 AK130746 BC009534
RefSeq transcript (Entrez)NM_032409
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_008164 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)PINK1
Cluster EST : UnigeneHs.389171 [ NCBI ]
CGAP (NCI)Hs.389171
Alternative Splicing : Fast-db (Paris)GSHG0000215
Alternative Splicing GalleryENSG00000158828
Gene ExpressionPINK1 [ NCBI-GEO ]     PINK1 [ SEEK ]   PINK1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BXM7 (Uniprot)
NextProtQ9BXM7  [Medical]
With graphics : InterProQ9BXM7
Splice isoforms : SwissVarQ9BXM7 (Swissvar)
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Kinase-like_dom    Prot_kinase_dom    Ser/Thr_kinase_AS   
Related proteins : CluSTrQ9BXM7
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
DMDM Disease mutations65018
Blocks (Seattle)Q9BXM7
Human Protein AtlasENSG00000158828
Peptide AtlasQ9BXM7
HPRD10514
IPIIPI00307065   IPI00411562   
Protein Interaction databases
DIP (DOE-UCLA)Q9BXM7
IntAct (EBI)Q9BXM7
FunCoupENSG00000158828
BioGRIDPINK1
IntegromeDBPINK1
STRING (EMBL)PINK1
Ontologies - Pathways
QuickGOQ9BXM7
Ontology : AmiGOmagnesium ion binding  mitochondrion degradation  chromatin  positive regulation of protein phosphorylation  protease binding  protease binding  regulation of oxidative phosphorylation  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nucleus  cytoplasm  mitochondrion  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  mitochondrial intermembrane space  cytosol  cytoskeleton  protein phosphorylation  protein phosphorylation  ubiquitin-dependent protein catabolic process  response to stress  response to oxidative stress  mitochondrion organization  regulation of hydrogen peroxide metabolic process  negative regulation of gene expression  regulation of mitochondrion organization  calcium-dependent protein kinase activity  positive regulation of peptidase activity  membrane  positive regulation of macroautophagy  negative regulation of macroautophagy  kinase activity  kinase activity  phosphorylation  peptidase activator activity  protein ubiquitination  peptidyl-serine phosphorylation  peptidyl-serine phosphorylation  respiratory electron transport chain  axon  integral component of mitochondrial outer membrane  regulation of protein ubiquitination  regulation of protein ubiquitination  ubiquitin protein ligase binding  TORC2 complex  activation of protein kinase B activity  positive regulation of synaptic transmission, dopaminergic  positive regulation of peptidyl-serine phosphorylation  positive regulation of peptidyl-serine phosphorylation  positive regulation of dopamine secretion  cellular response to oxidative stress  positive regulation of protein dephosphorylation  intracellular signal transduction  peptidyl-serine autophosphorylation  TORC2 signaling  positive regulation of I-kappaB kinase/NF-kappaB signaling  regulation of protein complex assembly  protein kinase B binding  negative regulation of neuron apoptotic process  cell body  positive regulation of translation  negative regulation of JNK cascade  perinuclear region of cytoplasm  protein stabilization  positive regulation of sequence-specific DNA binding transcription factor activity  positive regulation of ubiquitin-protein transferase activity  regulation of mitochondrial membrane potential  regulation of mitochondrial membrane potential  positive regulation of protein kinase B signaling  C3HC4-type RING finger domain binding  regulation of proteasomal protein catabolic process  cellular response to hypoxia  positive regulation of mitochondrial fission  positive regulation of release of cytochrome c from mitochondria  negative regulation of mitochondrial fission  cellular response to toxic substance  Lewy body  astrocyte projection  activation of mitophagy in response to mitochondrial depolarization  negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  regulation of synaptic vesicle transport  negative regulation of autophagic vacuole assembly  positive regulation of mitochondrial electron transport, NADH to ubiquinone  regulation of mitochondrion degradation  negative regulation of mitochondrion degradation  negative regulation of oxidative stress-induced cell death  negative regulation of oxidative stress-induced neuron death  regulation of protein targeting to mitochondrion  regulation of protein targeting to mitochondrion  regulation of protein targeting to mitochondrion  negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway  negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway  negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway  positive regulation of cristae formation  positive regulation of protein targeting to mitochondrion  regulation of reactive oxygen species metabolic process  regulation of reactive oxygen species metabolic process  negative regulation of reactive oxygen species metabolic process  positive regulation of ATP biosynthetic process  
Ontology : EGO-EBImagnesium ion binding  mitochondrion degradation  chromatin  positive regulation of protein phosphorylation  protease binding  protease binding  regulation of oxidative phosphorylation  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nucleus  cytoplasm  mitochondrion  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  mitochondrial intermembrane space  cytosol  cytoskeleton  protein phosphorylation  protein phosphorylation  ubiquitin-dependent protein catabolic process  response to stress  response to oxidative stress  mitochondrion organization  regulation of hydrogen peroxide metabolic process  negative regulation of gene expression  regulation of mitochondrion organization  calcium-dependent protein kinase activity  positive regulation of peptidase activity  membrane  positive regulation of macroautophagy  negative regulation of macroautophagy  kinase activity  kinase activity  phosphorylation  peptidase activator activity  protein ubiquitination  peptidyl-serine phosphorylation  peptidyl-serine phosphorylation  respiratory electron transport chain  axon  integral component of mitochondrial outer membrane  regulation of protein ubiquitination  regulation of protein ubiquitination  ubiquitin protein ligase binding  TORC2 complex  activation of protein kinase B activity  positive regulation of synaptic transmission, dopaminergic  positive regulation of peptidyl-serine phosphorylation  positive regulation of peptidyl-serine phosphorylation  positive regulation of dopamine secretion  cellular response to oxidative stress  positive regulation of protein dephosphorylation  intracellular signal transduction  peptidyl-serine autophosphorylation  TORC2 signaling  positive regulation of I-kappaB kinase/NF-kappaB signaling  regulation of protein complex assembly  protein kinase B binding  negative regulation of neuron apoptotic process  cell body  positive regulation of translation  negative regulation of JNK cascade  perinuclear region of cytoplasm  protein stabilization  positive regulation of sequence-specific DNA binding transcription factor activity  positive regulation of ubiquitin-protein transferase activity  regulation of mitochondrial membrane potential  regulation of mitochondrial membrane potential  positive regulation of protein kinase B signaling  C3HC4-type RING finger domain binding  regulation of proteasomal protein catabolic process  cellular response to hypoxia  positive regulation of mitochondrial fission  positive regulation of release of cytochrome c from mitochondria  negative regulation of mitochondrial fission  cellular response to toxic substance  Lewy body  astrocyte projection  activation of mitophagy in response to mitochondrial depolarization  negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  regulation of synaptic vesicle transport  negative regulation of autophagic vacuole assembly  positive regulation of mitochondrial electron transport, NADH to ubiquinone  regulation of mitochondrion degradation  negative regulation of mitochondrion degradation  negative regulation of oxidative stress-induced cell death  negative regulation of oxidative stress-induced neuron death  regulation of protein targeting to mitochondrion  regulation of protein targeting to mitochondrion  regulation of protein targeting to mitochondrion  negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway  negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway  negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway  positive regulation of cristae formation  positive regulation of protein targeting to mitochondrion  regulation of reactive oxygen species metabolic process  regulation of reactive oxygen species metabolic process  negative regulation of reactive oxygen species metabolic process  positive regulation of ATP biosynthetic process  
Pathways : KEGGParkinson's disease   
Protein Interaction DatabasePINK1
DoCM (Curated mutations)PINK1
Wikipedia pathwaysPINK1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerPINK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PINK1
dbVarPINK1
ClinVarPINK1
1000_GenomesPINK1 
Exome Variant ServerPINK1
SNP (GeneSNP Utah)PINK1
SNP : HGBasePINK1
Genetic variants : HAPMAPPINK1
Genomic Variants (DGV)PINK1 [DGVbeta]
Mutations
ICGC Data PortalPINK1 
TCGA Data PortalPINK1 
Tumor PortalPINK1
Somatic Mutations in Cancer : COSMICPINK1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)Parkinson's disease Mutation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:20959948-20978004
CONAN: Copy Number AnalysisPINK1 
Mutations and Diseases : HGMDPINK1
OMIM605909    608309   
MedgenPINK1
NextProtQ9BXM7 [Medical]
GENETestsPINK1
Disease Genetic AssociationPINK1
Huge Navigator PINK1 [HugePedia]  PINK1 [HugeCancerGEM]
snp3D : Map Gene to Disease65018
DGIdb (Drug Gene Interaction db)PINK1
General knowledge
Homologs : HomoloGenePINK1
Homology/Alignments : Family Browser (UCSC)PINK1
Phylogenetic Trees/Animal Genes : TreeFamPINK1
Chemical/Protein Interactions : CTD65018
Chemical/Pharm GKB GenePA33325
Clinical trialPINK1
Cancer Resource (Charite)ENSG00000158828
Other databases
Probes
Litterature
PubMed243 Pubmed reference(s) in Entrez
CoreMinePINK1
GoPubMedPINK1
iHOPPINK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 20 19:51:15 CEST 2015

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