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Aliases for PINK1 Gene

Aliases for PINK1 Gene

  • PTEN Induced Putative Kinase 1 2 3 5
  • PTEN-Induced Putative Kinase Protein 1 3 4
  • BRPK 3 4
  • Serine/Threonine-Protein Kinase PINK1, Mitochondrial 3
  • Parkinson Disease (Autosomal Recessive) 6 2
  • Protein Kinase BRPK 3
  • EC 2.7.11.1 4
  • PARK6 3

External Ids for PINK1 Gene

Previous HGNC Symbols for PINK1 Gene

  • PARK6

Previous GeneCards Identifiers for PINK1 Gene

  • GC01P020530
  • GC01P019995
  • GC01P020105
  • GC01P020429
  • GC01P020705
  • GC01P020832
  • GC01P020959
  • GC01P019206

Summaries for PINK1 Gene

Entrez Gene Summary for PINK1 Gene

  • 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]

GeneCards Summary for PINK1 Gene

PINK1 (PTEN Induced Putative Kinase 1) is a Protein Coding gene. Diseases associated with PINK1 include Parkinson Disease 6, Early Onset and Parkinson Disease, Juvenile, Type 2. Among its related pathways are Pink/Parkin Mediated Mitophagy and Parkinsons Disease Pathway. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity.

UniProtKB/Swiss-Prot for PINK1 Gene

  • Protects against mitochondrial dysfunction during cellular stress by phosphorylating mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) by mediating activation and translocation of PARK2. Targets PARK2 to dysfunctional depolarized mitochondria through the phosphorylation of MFN2. Activates PARK2 in 2 steps: (1) by mediating phosphorylation at Ser-65 of PARK2 and (2) mediating phosphorylation of ubiquitin, converting PARK2 to its fully-active form (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291).

Gene Wiki entry for PINK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PINK1 Gene

Genomics for PINK1 Gene

Regulatory Elements for PINK1 Gene

Enhancers for PINK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F020610 1.2 Ensembl ENCODE 37.4 -20.5 -20471 4.2 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 GATA2 FOS MIER2 PINK1 CDA OTUD3 MIR6084 FAM43B DDOST GC01P020619
GH01F020632 1.1 ENCODE 30.4 +0.6 560 2.5 ATF1 CREB3L1 ARID4B SIN3A ZNF2 SLC30A9 GLIS2 ZNF143 KLF7 KDM4B PINK1 CDA PIR40855 MIR6084
GH01F020575 1.2 Ensembl ENCODE 21.8 -57.4 -57381 1.5 PKNOX1 ARID4B SIN3A ZNF2 GTF3C2 GLIS2 ZNF143 ZNF263 YY2 MIER2 PINK1 OTUD3 CDA MIR6084 DDOST MUL1 HS6ST1P1 FAM43B
GH01F020600 1.4 FANTOM5 Ensembl ENCODE 13.1 -30.7 -30740 5.4 CBX3 ESRRA NFRKB JUN ZNF266 YY1 ZNF121 ZNF316 NFYB SCRT2 CDA PINK1 GC01P020619
GH01F020588 0.9 ENCODE 17.9 -43.8 -43800 2.8 PKNOX1 KLF17 RAD21 YY1 CREM EGR2 THAP11 SMARCA5 ZNF280D CEBPB CDA PINK1 MIR6084 FAM43B MUL1 GC01P020619
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PINK1 on UCSC Golden Path with GeneCards custom track

Promoters for PINK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000532063 445 1801 CREB3L1 ARID4B SIN3A ZNF2 SLC30A9 GLIS2 ZNF143 KLF7 KDM4B KLF13

Genomic Location for PINK1 Gene

Chromosome:
1
Start:
20,633,455 bp from pter
End:
20,651,511 bp from pter
Size:
18,057 bases
Orientation:
Plus strand

Genomic View for PINK1 Gene

Genes around PINK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PINK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PINK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PINK1 Gene

Proteins for PINK1 Gene

  • Protein details for PINK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXM7-PINK1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase PINK1, mitochondrial
    Protein Accession:
    Q9BXM7
    Secondary Accessions:
    • Q8N6T9
    • Q8NBU3
    • Q96DE4

    Protein attributes for PINK1 Gene

    Size:
    581 amino acids
    Molecular mass:
    62769 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with PARK2. Interacts with FBXO7. Forms a complex with PARK2 and PARK7 (PubMed:19229105).
    • Interacts with PARK2. Interacts with FBXO7. Forms a complex with PARK2 and PARK7 (PubMed:19229105).

    Alternative splice isoforms for PINK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PINK1 Gene

Post-translational modifications for PINK1 Gene

  • Autophosphorylation at Ser-228 and Ser-402 is essential for Parkin/PARK2 recruitment to depolarized mitochondria.
  • Two shorter forms of 55 kDa and 48 kDa seem to be produced by proteolytic cleavage and localize mainly in cytosol.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PINK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PINK1 (PINK1)
  • Cloud-Clone Corp. Antibodies for PINK1

No data available for DME Specific Peptides for PINK1 Gene

Domains & Families for PINK1 Gene

Protein Domains for PINK1 Gene

Suggested Antigen Peptide Sequences for PINK1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BXM7

UniProtKB/Swiss-Prot:

PINK1_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
genes like me logo Genes that share domains with PINK1: view

Function for PINK1 Gene

Molecular function for PINK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Protects against mitochondrial dysfunction during cellular stress by phosphorylating mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) by mediating activation and translocation of PARK2. Targets PARK2 to dysfunctional depolarized mitochondria through the phosphorylation of MFN2. Activates PARK2 in 2 steps: (1) by mediating phosphorylation at Ser-65 of PARK2 and (2) mediating phosphorylation of ubiquitin, converting PARK2 to its fully-active form (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291).

Enzyme Numbers (IUBMB) for PINK1 Gene

Gene Ontology (GO) - Molecular Function for PINK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IDA 14607334
GO:0002020 protease binding TAS 24522549
GO:0004672 protein kinase activity IMP 25527497
GO:0004674 protein serine/threonine kinase activity IEA,TAS 24522549
genes like me logo Genes that share ontologies with PINK1: view
genes like me logo Genes that share phenotypes with PINK1: view

Human Phenotype Ontology for PINK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PINK1 Gene

MGI Knock Outs for PINK1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PINK1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PINK1

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for PINK1 Gene

Localization for PINK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PINK1 Gene

Mitochondrion outer membrane; Single-pass membrane protein. Cytoplasm, cytosol. Note=Localizes mostly in mitochondrion and the 2 proteolytic processed fragments of 55 kDa and 48 kDa localize mainly in cytosol. {ECO:0000269 PubMed:19229105}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PINK1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
cytoskeleton 4
lysosome 2

Gene Ontology (GO) - Cellular Components for PINK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 colocalizes_with ubiquitin ligase complex ISS --
GO:0000785 chromatin IDA 24798695
GO:0005634 nucleus IDA 24798695
GO:0005737 cytoplasm IDA 16702191
GO:0005739 colocalizes_with mitochondrion IEA,IMP 24184327
genes like me logo Genes that share ontologies with PINK1: view

Pathways & Interactions for PINK1 Gene

genes like me logo Genes that share pathways with PINK1: view

Pathways by source for PINK1 Gene

1 Cell Signaling Technology pathway for PINK1 Gene
1 BioSystems pathway for PINK1 Gene
2 Reactome pathways for PINK1 Gene
1 KEGG pathway for PINK1 Gene
1 Qiagen pathway for PINK1 Gene

SIGNOR curated interactions for PINK1 Gene

Activates:

Gene Ontology (GO) - Biological Process for PINK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000422 mitophagy IMP 20798600
GO:0001934 positive regulation of protein phosphorylation IDA 25244949
GO:0002082 regulation of oxidative phosphorylation IDA 20871098
GO:0006468 protein phosphorylation TAS 24522549
GO:0006511 ubiquitin-dependent protein catabolic process TAS 24522549
genes like me logo Genes that share ontologies with PINK1: view

Drugs & Compounds for PINK1 Gene

(8) Drugs for PINK1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Magnesium Nutra 0

(1) Additional Compounds for PINK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with PINK1: view

Transcripts for PINK1 Gene

mRNA/cDNA for PINK1 Gene

Unigene Clusters for PINK1 Gene

PTEN induced putative kinase 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PINK1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PINK1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
SP1: - -
SP2: -
SP3:

Relevant External Links for PINK1 Gene

GeneLoc Exon Structure for
PINK1
ECgene alternative splicing isoforms for
PINK1

Expression for PINK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PINK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PINK1 Gene

This gene is overexpressed in Muscle - Skeletal (x4.1).

Protein differential expression in normal tissues from HIPED for PINK1 Gene

This gene is overexpressed in Serum (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PINK1 Gene



Protein tissue co-expression partners for PINK1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PINK1 Gene:

PINK1

SOURCE GeneReport for Unigene cluster for PINK1 Gene:

Hs.389171

mRNA Expression by UniProt/SwissProt for PINK1 Gene:

Q9BXM7-PINK1_HUMAN
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.
genes like me logo Genes that share expression patterns with PINK1: view

Orthologs for PINK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PINK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PINK1 34 35
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia PINK1 34 35
  • 85.72 (n)
dog
(Canis familiaris)
Mammalia PINK1 34 35
  • 85.5 (n)
mouse
(Mus musculus)
Mammalia Pink1 34 16 35
  • 81.98 (n)
rat
(Rattus norvegicus)
Mammalia Pink1 34
  • 81.39 (n)
oppossum
(Monodelphis domestica)
Mammalia PINK1 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PINK1 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves PINK1 34 35
  • 66.08 (n)
zebrafish
(Danio rerio)
Actinopterygii pink1 34 35
  • 58.32 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10399 34
fruit fly
(Drosophila melanogaster)
Insecta CG4523 36
  • 43 (a)
Pink1 35
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea pink-1 34 35
  • 43.7 (n)
EEED8.9 36
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8949 35
  • 30 (a)
OneToOne
Species where no ortholog for PINK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PINK1 Gene

ENSEMBL:
Gene Tree for PINK1 (if available)
TreeFam:
Gene Tree for PINK1 (if available)

Paralogs for PINK1 Gene

No data available for Paralogs for PINK1 Gene

Variants for PINK1 Gene

Sequence variations from dbSNP and Humsavar for PINK1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs138302371 Parkinson disease 6 (PARK6) [MIM:605909] 20,638,041(+) AGGCC(C/T)AGGTA reference, missense
rs28940284 Parkinson disease 6 (PARK6) [MIM:605909], Pathogenic 20,644,526(+) CCTCA(A/C)CCCAA intron-variant, reference, missense
rs28940285 Parkinson disease 6 (PARK6) [MIM:605909], Pathogenic 20,645,640(+) GCTGC(C/T)GGAAG nc-transcript-variant, reference, missense
rs371854396 A glioblastoma multiforme sample, Uncertain significance 20,638,098(+) CTTCC(C/G/T)CTTGG reference, missense
rs372280083 Parkinson disease 6 (PARK6) [MIM:605909] 20,644,515(+) AGCAA(C/G)TAGCC intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PINK1 Gene

Variant ID Type Subtype PubMed ID
nsv834369 CNV loss 17160897
nsv545731 CNV gain 21841781
nsv1137740 CNV deletion 24896259
nsv1126183 CNV deletion 24896259
nsv1076232 CNV deletion 25765185
nsv1003348 CNV gain 25217958

Variation tolerance for PINK1 Gene

Residual Variation Intolerance Score: 77.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.23; 90.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PINK1 Gene

Human Gene Mutation Database (HGMD)
PINK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PINK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PINK1 Gene

Disorders for PINK1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for PINK1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
parkinson disease 6, early onset
  • early-onset parkinson disease 6
parkinson disease, juvenile, type 2
  • autosomal recessive juvenile parkinson disease 2
pink1 type of young-onset parkinson disease
  • pink1-related parkinson disease
movement disease
  • movement disorders
parkinson disease 10
- elite association - COSMIC cancer census association via MalaCards
Search PINK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PINK1_HUMAN
  • Parkinson disease 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. {ECO:0000269 PubMed:15087508, ECO:0000269 PubMed:15349860, ECO:0000269 PubMed:15349870, ECO:0000269 PubMed:15505171, ECO:0000269 PubMed:15596610, ECO:0000269 PubMed:15955953, ECO:0000269 PubMed:15970950, ECO:0000269 PubMed:16009891, ECO:0000269 PubMed:16207217, ECO:0000269 PubMed:16257123, ECO:0000269 PubMed:16401616, ECO:0000269 PubMed:16482571, ECO:0000269 PubMed:16632486, ECO:0000269 PubMed:16966503, ECO:0000269 PubMed:17030667, ECO:0000269 PubMed:18286320, ECO:0000269 PubMed:22956510}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PINK1

Genetic Association Database (GAD)
PINK1
Human Genome Epidemiology (HuGE) Navigator
PINK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PINK1
genes like me logo Genes that share disorders with PINK1: view

No data available for Genatlas for PINK1 Gene

Publications for PINK1 Gene

  1. PINK1 mutations are associated with sporadic early-onset parkinsonism. (PMID: 15349860) Valente E.M. … Bentivoglio A.R. (Ann. Neurol. 2004) 2 3 4 22 46 64
  2. PINK1, Parkin, and DJ-1 mutations in Italian patients with early- onset parkinsonism. (PMID: 15970950) Klein C. … Pramstaller P.P. (Eur. J. Hum. Genet. 2005) 3 4 22 46 64
  3. PINK1 (PARK6) associated Parkinson disease in Ireland. (PMID: 15505171) Healy D.G. … Lynch T. (Neurology 2004) 3 4 22 46 64
  4. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. (PMID: 15596610) Rogaeva E. … Singleton A.B. (Arch. Neurol. 2004) 3 4 22 46 64
  5. A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease. (PMID: 19726410) Nishioka K. … Hentati F. (J. Neurol. Neurosurg. Psychiatr. 2010) 3 22 46 64

Products for PINK1 Gene

Sources for PINK1 Gene

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