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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
  • Alliance
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
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PINK1, PTEN induced kinase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PINK1, PTEN induced kinase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BRPK, PARK6
  • Links
    NCBI Gene ID: 65018
    neXtProt AC: NX_Q9BXM7
    UniProt: Q9BXM7

  • Chr Location
    1p36.12; chr1:20633455-20651511 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
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
    18 phenotypes from multigenic genotypes
    57 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      264 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 200
      cDNA 198
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2140484, MGI:2140604
    References
    more
    • Summaries
      All 121
      Developmental Gene Expression 5
      Diseases 6
      Gene Ontology 17
      Phenotypes 57
    • 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:264225 Sliter DA, et al., Parkin and PINK1 mitigate STING-induced inflammation. Nature. 2018 Aug 22;

    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
    10/09/2018
    MGI 6.12
    The Jackson Laboratory