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PINK1 Gene(Protein Coding)

PTEN Induced Putative Kinase 1

GCID:
GC01P020634
GIFtS:
71
Genes Participants
UDN Logo

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
  • 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Neuroscience. 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

Products:

  1. Regulatory Element

Regulatory Elements for PINK1 Gene

Enhancers for PINK1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around PINK1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PINK1 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for PINK1 Gene

Proteins for PINK1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for PINK1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Gene Families for PINK1 Gene

HGNC:
IUPHAR :

Protein Domains for PINK1 Gene

InterPro:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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 IEA,IDA 14607334
GO:0016504 peptidase activator activity TAS 24522549
genes like me logo Genes that share ontologies with PINK1: view

Phenotypes for PINK1 Gene

MGI mutant phenotypes for PINK1:
inferred from 10 alleles
GenomeRNAi human phenotypes for PINK1:
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

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
Jensen Localization Image for PINK1 Gene COMPARTMENTS Subcellular localization image for PINK1 gene
Compartment Confidence
cytosol 5
mitochondrion 5
nucleus 5
cytoskeleton 4
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for PINK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005741 mitochondrial outer membrane TAS --
GO:0005742 colocalizes_with mitochondrial outer membrane translocase complex IMP 24270810
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:0002082 regulation of oxidative phosphorylation IDA 20871098
GO:0007005 mitochondrion organization IMP 18560593
GO:0010821 regulation of mitochondrion organization IMP 21508222
GO:0016236 macroautophagy TAS --
genes like me logo Genes that share ontologies with PINK1: view

Drugs & Compounds for PINK1 Gene

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for PINK1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(368) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PINK1 Gene

PTEN induced putative kinase 1:
Representative Sequences:

Inhibitory RNA 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

Products:

  1. Primer

mRNA expression in normal human tissues for PINK1 Gene

mRNA expression in normal human tissues for PINK1 Gene
mRNA expression by BioGPS for PINK1 GenemRNA expression by GTEx 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



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

Protein tissue co-expression partners for PINK1 Gene

Primer 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
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
chimpanzee
(Pan troglodytes)
 Mammalia PINK1 35
  • 99.54 (n)
  • 99.66 (a)
PINK1 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Pink1 35
  • 81.39 (n)
  • 78.75 (a)
oppossum
(Monodelphis domestica)
 Mammalia PINK1 36
  • 78 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PINK1 36
  • 71 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PINK1 35
  • 66.08 (n)
  • 64.05 (a)
PINK1 36
  • 55 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii pink1 35
  • 58.32 (n)
  • 57.48 (a)
pink1 36
  • 55 (a)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10399 35
fruit fly
(Drosophila melanogaster)
 Insecta CG4523 37
  • 43 (a)
Pink1 36
  • 25 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea EEED8.9 37
  • 31 (a)
pink-1 35
  • 43.7 (n)
  • 35.5 (a)
pink-1 36
  • 26 (a)
 OneToOne
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
VAR_018993 -
VAR_018994 Parkinson disease 6 (PARK6)
VAR_018995 -
VAR_018996 -
rs56297806 - 20,637,897(+) ACGCT(C/G/T)GCAGG reference, missense

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

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

HapMap Linkage Disequilibrium report
PINK1
Human Gene Mutation Database (HGMD)
PINK1

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

Disorders for PINK1 Gene

MalaCards: The human disease database

(12) 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 8
  • autosomal dominant parkinson disease 8
- 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 23 48 67
  2. 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 23
  3. Phosphorylation of parkin by Parkinson disease-linked kinase PINK1 activates parkin E3 ligase function and NF-kappaB signaling. (PMID: 19880420) Sha D. … Li L. (Hum. Mol. Genet. 2010) 3 23
  4. PINK1-dependent recruitment of Parkin to mitochondria in mitophagy. (PMID: 19966284) Vives-Bauza C. … Przedborski S. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 23
  5. PINK1 is recruited to mitochondria with parkin and associates with LC3 in mitophagy. (PMID: 20153330) Kawajiri S. … Hattori N. (FEBS Lett. 2010) 3 23

Products for PINK1 Gene

  • Addgene plasmids for PINK1

Sources for PINK1 Gene

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