About   Help   FAQ
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
Location & Maps
more
  • Sequence Map
    ChrX:102513975-102644246 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      130272 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 45.47 cM
  • Mapping Data
    15 experiments
Homology
more
  • Human Ortholog
    PHKA1, phosphorylase kinase regulatory subunit alpha 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    PHKA1, phosphorylase kinase regulatory subunit alpha 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PHKA
  • Links
    NCBI Gene ID: 5255
    neXtProt AC: NX_P46020

  • Chr Location
    Xq12-q13; chrX:72578814-72714181 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Phka1 mouse models; 1 with human PHKA1 associations

Human Disease Mouse Models
       Glycogen Storage Disease, Type Ixd; GSD9D   OMIM: 300559 View 2 models
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
less
  • Phenotype Summary
    1 phenotype from 1 allele in 3 genetic backgrounds
    9 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.
  • All Mutations and Alleles
    5
  • Gene trapped
    1
  • Spontaneous
    1
  • Targeted
    3
  • Incidental Mutations
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
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018059 VEGA Gene Model | MGI Sequence Detail 130272 C57BL/6J ±  kb
transcript OTTMUST00000043585 VEGA | MGI Sequence Detail 6115 Not Applicable  
polypeptide OTTMUSP00000019585 VEGA | MGI Sequence Detail 1241 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    285 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    9 Sequences
  • Protein Ontology
    PR:000012658 phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
  • InterPro Domains
    IPR011613 Glycoside hydrolase family 15/Phosphorylase b kinase regulatory chain family
    IPR008734 Phosphorylase kinase alpha/beta subunit
    IPR012341 Six-hairpin glycosidase
    IPR008928 Six-hairpin glycosidase-like
Molecular
Reagents
less
  • All nucleic 18
    cDNA 17
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-13294, MGD-MRK-13295, MGI:2444140
References
more
  • Summaries
    All 53
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 4
    Phenotypes 9
  • 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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/27/2016
MGI 6.05
The Jackson Laboratory