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Phka1 Gene Detail
Summary
  • Symbol
    Phka1
  • Name
    phosphorylase kinase alpha 1
  • Synonyms
    9830108K24Rik, Phka
  • Feature Type
    protein coding gene
  • IDs
    MGI:97576
    NCBI Gene: 18679
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:101557581-101687852 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 45.47 cM
  • Mapping Data
    15 experiments
Strain
Comparison
more
  • SNPs within 2kb
    285 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_97576
 protein coding gene ChrX:101557581-101687907 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035974
 protein coding gene ChrX:99111981-99236488 (-)
A/J MGP_AJ_G0035959
 protein coding gene ChrX:99070939-99203883 (-)
AKR/J MGP_AKRJ_G0035874
 protein coding gene ChrX:101944498-102084486 (-)
BALB/cJ MGP_BALBcJ_G0035944
 protein coding gene ChrX:97786800-97913507 (-)
C3H/HeJ MGP_C3HHeJ_G0035652
 protein coding gene ChrX:99483627-99615213 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036472
 protein coding gene ChrX:102031543-102157804 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033301
 protein coding gene ChrX:96788869-96902278 (-)
CAST/EiJ MGP_CASTEiJ_G0034938
 protein coding gene ChrX:83799853-83926210 (-)
CBA/J MGP_CBAJ_G0035626
 protein coding gene ChrX:105217819-105355038 (-)
DBA/2J MGP_DBA2J_G0035780
 protein coding gene ChrX:98272887-98400495 (-)
FVB/NJ MGP_FVBNJ_G0035719
 protein coding gene ChrX:97639149-97765405 (-)
LP/J MGP_LPJ_G0035872
 protein coding gene ChrX:100022458-100156369 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035753
 protein coding gene ChrX:109713403-109846818 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036498
 protein coding gene ChrX:98776970-98899758 (-)
PWK/PhJ MGP_PWKPhJ_G0034637
 protein coding gene ChrX:81372415-81508734 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034465
 protein coding gene ChrX:84707618-84842249 (-)
WSB/EiJ MGP_WSBEiJ_G0035077
 protein coding gene ChrX:97456251-97590835 (-)



Homology
more
  • Human Ortholog
    PHKA1, phosphorylase kinase regulatory subunit alpha 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PHKA1, phosphorylase kinase regulatory subunit alpha 1
  • Synonyms
    PHKA
  • Links
    NCBI Gene ID: 5255
    neXtProt AC: NX_P46020
    UniProt: P46020

  • Chr Location
    Xq13.1; chrX:72578814-72714319 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Phka1 mouse models; 2 with human PHKA1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 2 alleles in 4 genetic backgrounds
    12 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.
PHK activity is nearly absent in I/Ln skeletal muscle and reduced in brain, heart and kidney. The I-allele sequence is known to have a single nucleotide insertion (frameshift). A different allele in strain V reduces PHK activity to 25% and is dominant tonormal and I-strain alleles.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    5
  • GO References
    5
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
non-membrane-bounded 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
    723
  • Tissues
    6
  • cDNA Data
    16
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034055 Ensembl Gene Model | MGI Sequence Detail 130272 C57BL/6J ±  kb
    transcript ENSMUST00000052012 Ensembl | MGI Sequence Detail 6115 Not Applicable  
    polypeptide ENSMUSP00000061991 Ensembl | MGI Sequence Detail 1241 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      9 Sequences
    • Protein Ontology
      PR:000012658 phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
      (term hierarchy)
    • InterPro Domains
      IPR011613 GH15-like domain
      IPR045583 Phosphorylase b kinase regulatory subunit alpha/beta, C-terminal domain
      IPR008734 Phosphorylase kinase alpha/beta subunit
      IPR012341 Six-hairpin glycosidase-like superfamily
      IPR008928 Six-hairpin glycosidase superfamily
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 19
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-13294, MGD-MRK-13295, MGI:2444140
    References
    more
    • Summaries
      All 60
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 5
      Phenotypes 12
    • Earliest
      J:37921 LYON JB Jr, et al., The relation of phosphorylase to glycogenolysis in skeletal muscle and heart of mice. J Biol Chem. 1963 Jan;238:1-11
    • Latest
      J:236179 Bowman CE, et al., Requirement for the Mitochondrial Pyruvate Carrier in Mammalian Development Revealed by a Hypomorphic Allelic Series. Mol Cell Biol. 2016 Aug 1;36(15):2089-104
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory