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Aliases for PINK1 Gene

Aliases for PINK1 Gene

  • PTEN Induced Putative Kinase 1 2 3
  • PTEN-Induced Putative Kinase Protein 1 3 4
  • PARK6 3 6
  • 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

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 pink1 type of young-onset parkinson disease. Among its related pathways are Neuroscience and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include protein serine/threonine kinase activity and ubiquitin protein ligase binding.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PINK1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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).

    Alternative splice isoforms for PINK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PINK1 Gene

Proteomics data for PINK1 Gene at MOPED

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)

No data available for DME Specific Peptides for PINK1 Gene

Domains for PINK1 Gene

Gene Families for PINK1 Gene

HGNC:
  • PARK :Parkinson disease
IUPHAR :

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 :
  • Q9BXM7
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:0000287 magnesium ion binding IDA 14607334
GO:0002020 protease binding TAS 24522549
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity TAS 24522549
GO:0004713 protein tyrosine kinase activity --
genes like me logo Genes that share ontologies with PINK1: view
genes like me logo Genes that share phenotypes with PINK1: view

Animal Models for PINK1 Gene

MGI Knock Outs for PINK1:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PINK1

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting 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
Jensen Localization Image for PINK1 Gene COMPARTMENTS Subcellular localization image for PINK1 gene
Compartment Confidence
cytosol 5
mitochondrion 5

Gene Ontology (GO) - Cellular Components for PINK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 24798695
GO:0005634 nucleus IDA 24798695
GO:0005737 cytoplasm IDA 16702191
GO:0005739 colocalizes_with mitochondrion IGI 21355049
GO:0005741 mitochondrial outer membrane IDA 21426348
genes like me logo Genes that share ontologies with PINK1: view

Pathways for PINK1 Gene

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

Pathways by source for PINK1 Gene

1 Qiagen pathway for PINK1 Gene
1 Cell Signaling Technology pathway for PINK1 Gene
1 BioSystems pathway for PINK1 Gene
1 KEGG pathway for PINK1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PINK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000422 mitochondrion degradation 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

Compounds for PINK1 Gene

(3) HMDB Compounds for PINK1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4

(6) Novoseek inferred chemical compound relationships for PINK1 Gene

Compound -log(P) Hits PubMed IDs
levodopa 53.4 2
threonine 49.5 13
dopamine 41.2 8
serine 35.8 12
atp 17.2 3
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PINK1

Primer Products

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 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 (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PINK1 Gene

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 expressions with PINK1: view

In Situ Assay Products

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 35
  • 99.54 (n)
  • 99.66 (a)
PINK1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PINK1 35
  • 85.72 (n)
  • 86.87 (a)
PINK1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PINK1 35
  • 85.5 (n)
  • 86.64 (a)
PINK1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pink1 35
  • 81.98 (n)
  • 81.69 (a)
Pink1 16
Pink1 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PINK1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PINK1 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pink1 35
  • 81.39 (n)
  • 78.75 (a)
chicken
(Gallus gallus)
Aves PINK1 35
  • 66.08 (n)
  • 64.05 (a)
PINK1 36
  • 55 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10399 35
zebrafish
(Danio rerio)
Actinopterygii pink1 35
  • 58.32 (n)
  • 57.48 (a)
pink1 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Pink1 36
  • 25 (a)
OneToOne
CG4523 37
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea pink-1 35
  • 43.7 (n)
  • 35.5 (a)
pink-1 36
  • 26 (a)
OneToOne
EEED8.9 37
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8949 36
  • 30 (a)
OneToOne
Species with no ortholog for PINK1:
  • 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 MAF
rs879089 -- 20,642,023(+) GGAAA(C/G/T)GATGC intron-variant
rs931161 -- 20,639,278(-) GCATG(C/T)TTTGA intron-variant
rs931162 -- 20,638,914(-) GCCTC(G/T)GAGCT intron-variant
rs1152994 -- 20,635,615(+) aggcc(A/G)aggcg intron-variant
rs2275922 -- 20,639,815(+) TCCAG(A/G)TTACA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834369 CNV Loss 17160897
nsv870827 CNV Gain 21882294

Relevant External Links for PINK1 Gene

HapMap Linkage Disequilibrium report
PINK1
Human Gene Mutation Database (HGMD)
PINK1
Locus Specific Mutation Databases (LSDB)
PINK1

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

Disorders for PINK1 Gene

(1) OMIM Diseases for PINK1 Gene (608309)

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.

(1) University of Copenhagen DISEASES for PINK1 Gene

(9) Novoseek inferred disease relationships for PINK1 Gene

Disease -log(P) Hits PubMed IDs
autosomal recessive parkinsonism 94.7 12
parkinson disease 89.5 118
parkinsonism 86.3 75
neurodegenerative diseases 73.3 1
movement disorders 71.9 2

Relevant External Links for PINK1

GeneTests
PINK1
GeneReviews
PINK1
Genetic Association Database (GAD)
PINK1
Human Genome Epidemiology (HuGE) Navigator
PINK1
genes like me logo Genes that share disorders with PINK1: view

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 23 48
  2. PINK1 (PARK6) associated Parkinson disease in Ireland. (PMID: 15505171) Healy D.G. … Lynch T. (Neurology 2004) 3 4 23 48
  3. 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 23 48
  4. 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 23 48
  5. The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism. (PMID: 15349859) Healy D.G. … Wood N.W. (Ann. Neurol. 2004) 3 23 48

Products for PINK1 Gene

  • Addgene plasmids for PINK1

Sources for PINK1 Gene

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