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Pink1 Gene Detail
Summary
  • Symbol
    Pink1
  • Name
    PTEN induced putative kinase 1
  • Synonyms
    1190006F07Rik, brpk
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916193
    NCBI Gene: 68943
  • Gene Overview
    MyGene.info: PINK1
Location & Maps
more
  • Sequence Map
    Chr4:138313409-138326307 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12899 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 70.14 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PINK1, PTEN induced putative kinase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PINK1, PTEN induced putative kinase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BRPK, PARK6
  • Links
    NCBI Gene ID: 65018
    neXtProt AC: NX_Q9BXM7

  • Chr Location
    1p36; chr1:20633455-20651511 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Pink1 mouse models; 1 with human PINK1 associations

Human Disease Mouse Models
       Parkinson Disease 6, Autosomal Recessive Early-Onset; PARK6   OMIM: 605909 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    37 phenotypes from 8 alleles in 8 genetic backgrounds
    14 phenotypes from multigenic genotypes
    43 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Chemically induced (other)
    2
  • Targeted
    13
  • Genomic Mutations
    3 involving Pink1
  • Incidental Mutations
Some mice homozygous for null mutations exhibit decreased dopamine content, reduced long term potentional and depression, mitochondrial abnormalities, and/or behavioral abnormalities. Some null mice model the early stages of Parkinson Disease.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009975 VEGA Gene Model | MGI Sequence Detail 12899 C57BL/6J ±  kb
transcript OTTMUST00000023184 VEGA | MGI Sequence Detail 2375 Not Applicable  
polypeptide OTTMUSP00000010580 VEGA | MGI Sequence Detail 580 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    264 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000012737 serine/threonine-protein kinase PINK1, mitochondrial
  • EC
  • InterPro Domains
    IPR017441 Protein kinase, ATP binding site
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
    IPR008271 Serine/threonine-protein kinase, active site
Molecular
Reagents
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  • All nucleic 199
    cDNA 197
    Primer pair 2

    Microarray probesets 5
Other
Accession IDs
less
MGI:2140484, MGI:2140604
References
more
  • Summaries
    All 90
    Developmental Gene Expression 5
    Diseases 6
    Gene Ontology 17
    Phenotypes 43
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:230328 Auburger G, et al., Methyl-Arginine Profile of Brain from Aged PINK1-KO+A53T-SNCA Mice Suggests Altered Mitochondrial Biogenesis. Parkinsons Dis. 2016;2016:4686185

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory