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Pak1 Gene Detail
Summary
  • Symbol
    Pak1
  • Name
    p21 (RAC1) activated kinase 1
  • Synonyms
    PAK-1, Paka
  • Feature Type
    protein coding gene
  • IDs
    MGI:1339975
    NCBI Gene: 18479
  • Alliance
    gene page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:97437748-97561588 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 53.57 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2884 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1339975
 protein coding gene Chr7:97437748-97561588 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032531
 protein coding gene Chr7:100500026-100638267 (+)
A/J MGP_AJ_G0032505
 protein coding gene Chr7:98008550-98130586 (+)
AKR/J MGP_AKRJ_G0032441
 protein coding gene Chr7:100345092-100474325 (+)
BALB/cJ MGP_BALBcJ_G0032516
 protein coding gene Chr7:97697844-97828747 (+)
C3H/HeJ MGP_C3HHeJ_G0032231
 protein coding gene Chr7:100697574-100834801 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033014
 protein coding gene Chr7:104409435-104545848 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030009
 protein coding gene Chr7:100456861-100582489 (+)
CAST/EiJ MGP_CASTEiJ_G0031558
 protein coding gene Chr7:92220931-92352714 (+)
CBA/J MGP_CBAJ_G0032198
 protein coding gene Chr7:107933673-108082747 (+)
DBA/2J MGP_DBA2J_G0032350
 protein coding gene Chr7:96369005-96492020 (+)
FVB/NJ MGP_FVBNJ_G0032306
 protein coding gene Chr7:96156469-96278970 (+)
LP/J MGP_LPJ_G0032439
 protein coding gene Chr7:101819664-101956356 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032339
 protein coding gene Chr7:109478755-109634114 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033036
 protein coding gene Chr7:99625636-99762973 (+)
PWK/PhJ MGP_PWKPhJ_G0031276
 protein coding gene Chr7:89427316-89554777 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031119
 protein coding gene Chr7:86872315-87003771 (+)
WSB/EiJ MGP_WSBEiJ_G0031675
 protein coding gene Chr7:100270111-100402024 (+)



Homology
more
  • Human Ortholog
    PAK1, p21 (RAC1) activated kinase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PAK1, p21 (RAC1) activated kinase 1
  • Synonyms
    alpha-PAK, IDDMSSD, p65-PAK, PAKalpha
  • Links
    NCBI Gene ID: 5058
    neXtProt AC: NX_Q13153
    UniProt: Q13153

  • Chr Location
    11q13.5-q14.1; chr11:77322017-77530009 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with human PAK1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 6 alleles in 8 genetic backgrounds
    1 phenotype from multigenic genotypes
    64 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.
Mice homozygous for a knock-out allele display defects in allergen-induced mast cell migration and degranulation. Mice homozygous for a different knock-out allele exhibit reduced long term potentiation. A C>T mutation at position 6 in the 3' UTR affects the use of the proximal poly(A) signal and reduces susceptibility to developing papillomas.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    160
  • GO References
    32
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
    1182
  • Tissues
    207
  • cDNA Data
    54
  • Literature Summary
    40
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18479 NCBI Gene Model | MGI Sequence Detail 123841 C57BL/6J ±  kb
    transcript NM_001357365 RefSeq | MGI Sequence Detail 3287 ZRU/MplStud  
    polypeptide O88643 UniProt | EBI | MGI Sequence Detail 545 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 58
      Genomic 1
      cDNA 54
      Primer pair 3

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1203486, MGI:2142185
    References
    more
    • Summaries
      All 194
      Developmental Gene Expression 40
      Gene Ontology 32
      Phenotypes 64
    • Earliest
      J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
    • Latest
      J:357470 Hu B, et al., PAK2 is necessary for myelination in the peripheral nervous system. Brain. 2024 May 3;147(5):1809-1821
    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
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory