About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:138040720-138053618 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 70.14 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    527 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916193
 protein coding gene Chr4:138040718-138053631 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028994
 protein coding gene Chr4:141041374-141054506 (-)
A/J MGP_AJ_G0028953
 protein coding gene Chr4:135014224-135027181 (-)
AKR/J MGP_AKRJ_G0028905
 protein coding gene Chr4:138863575-138876273 (-)
BALB/cJ MGP_BALBcJ_G0028977
 protein coding gene Chr4:135686112-135699028 (-)
C3H/HeJ MGP_C3HHeJ_G0028691
 protein coding gene Chr4:139226624-139240810 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029418
 protein coding gene Chr4:146051338-146068546 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026689
 protein coding gene Chr4:127995066-128008171 (-)
CAST/EiJ MGP_CASTEiJ_G0028123
 protein coding gene Chr4:137382694-137397203 (-)
CBA/J MGP_CBAJ_G0028656
 protein coding gene Chr4:150209525-150227931 (-)
DBA/2J MGP_DBA2J_G0028805
 protein coding gene Chr4:135391541-135404929 (-)
FVB/NJ MGP_FVBNJ_G0028772
 protein coding gene Chr4:134411372-134424479 (-)
LP/J MGP_LPJ_G0028904
 protein coding gene Chr4:141118941-141132777 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028798
 protein coding gene Chr4:154225620-154240102 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029456
 protein coding gene Chr4:139377259-139390002 (-)
PWK/PhJ MGP_PWKPhJ_G0027844
 protein coding gene Chr4:132241989-132254442 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027669
 protein coding gene Chr4:135155713-135168585 (-)
WSB/EiJ MGP_WSBEiJ_G0028201
 protein coding gene Chr4:139607118-139622624 (-)



Homology
more
  • Human Ortholog
    PINK1, PTEN induced kinase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PINK1, PTEN induced kinase 1
  • Synonyms
    BRPK, PARK6
  • Links
    NCBI Gene ID: 65018
    neXtProt AC: NX_Q9BXM7
    UniProt: Q9BXM7

  • Chr Location
    1p36.12; chr1:20633458-20651511 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pink1 mouse models; 2 with human PINK1 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
 View 2 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
less
  • Phenotype Summary
    37 phenotypes from 8 alleles in 8 genetic backgrounds
    20 phenotypes from multigenic genotypes
    128 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
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
neoplasm
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
less
  • All GO Annotations
    184
  • GO References
    24
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    916
  • Tissues
    149
  • cDNA Data
    198
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028756 Ensembl Gene Model | MGI Sequence Detail 12899 C57BL/6J ±  kb
    transcript ENSMUST00000030536 Ensembl | MGI Sequence Detail 2375 Not Applicable  
    polypeptide ENSMUSP00000030536 Ensembl | MGI Sequence Detail 580 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 201
      cDNA 198
      Primer pair 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2140484, MGI:2140604
    References
    more
    • Summaries
      All 217
      Developmental Gene Expression 10
      Diseases 6
      Gene Ontology 24
      Phenotypes 128
    • 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:359566 Longo M, et al., Opposing roles for AMPK in regulating distinct mitophagy pathways. Mol Cell. 2024 Nov 21;84(22):4350-4367.e9
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory