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Phka1 phosphorylase kinase alpha 1 [ Mus musculus (house mouse) ]

Gene ID: 18679, updated on 5-Mar-2024

Summary

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Official Symbol
Phka1provided by MGI
Official Full Name
phosphorylase kinase alpha 1provided by MGI
Primary source
MGI:MGI:97576
See related
Ensembl:ENSMUSG00000034055 AllianceGenome:MGI:97576
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Phka; 5330411D17; 9830108K24Rik
Summary
Predicted to enable calmodulin binding activity. Predicted to be involved in protein autophosphorylation. Predicted to act upstream of or within glycogen metabolic process. Predicted to be located in plasma membrane. Predicted to be part of phosphorylase kinase complex. Is expressed in diencephalon lateral wall mantle layer; heart; and midbrain mantle layer. Used to study glycogen storage disease IXd. Human ortholog(s) of this gene implicated in glycogen storage disease and glycogen storage disease IXd. Orthologous to human PHKA1 (phosphorylase kinase regulatory subunit alpha 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in mammary gland adult (RPKM 5.2), cerebellum adult (RPKM 3.0) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Phka1 in Genome Data Viewer
Location:
X D; X 45.47 cM
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (101557581..101687907, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (102513975..102644301, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene 14858 Neighboring gene STARR-seq mESC enhancer starr_47671 Neighboring gene histone deacetylase 8 Neighboring gene predicted gene, 32262 Neighboring gene STARR-seq mESC enhancer starr_47673 Neighboring gene STARR-seq mESC enhancer starr_47674 Neighboring gene STARR-seq mESC enhancer starr_47675 Neighboring gene high mobility group box 1 pseudogene Neighboring gene transcriptional adaptor 3 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The relation of phosphorylase to glycogenolysis in skeletal muscle and heart of mice. LYON JB Jr, et al. J Biol Chem, 1963 Jan. PMID 13931951
  2. Phosphorylase kinase deficiency in mice. Huijing F. FEBS Lett, 1970 Oct. PMID 11945425
  3. Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. Schneider A, et al. Nat Genet, 1993 Dec. PMID 8298647
  4. Phosphorylase b kinase inheritance in mice. Lyon JB Jr, et al. Science, 1967 Mar 24. PMID 6020474
  5. The X-chromosome and the enzymes controlling muscle glycogen: phosphorylase kinase. Lyon JB Jr. Biochem Genet, 1970 Feb. PMID 5444100

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within glycogen metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glycogen metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
part_of phosphorylase kinase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of phosphorylase kinase complex ISO
Inferred from Sequence Orthology
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
Names
phosphorylase kinase alpha M subunit
NP_032858.2
NP_766609.2
XP_006527957.1
XP_006527958.1
XP_036017744.1
XP_036017745.1
XP_036017746.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_008832.2 → NP_032858.2  phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 1

    See identical proteins and their annotated locations for NP_032858.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL732405, AL805925
    Consensus CDS
    CCDS30323.1
    UniProtKB/Swiss-Prot
    A2AI90, P18826
    UniProtKB/TrEMBL
    A2AI87
    Related
    ENSMUSP00000061991.8, ENSMUST00000052012.14
    Conserved Domains (1) summary
    pfam00723
    Location:8 → 439
    Glyco_hydro_15; Glycosyl hydrolases family 15

  2. NM_173021.3 → NP_766609.2  phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AK036440, AK137497, AK163548, BB662994, BY414985
    Consensus CDS
    CCDS30324.1
    UniProtKB/TrEMBL
    A2AI91, Q8CBA7
    Related
    ENSMUSP00000042778.6, ENSMUST00000043596.12
    Conserved Domains (1) summary
    pfam00723
    Location:8 → 439
    Glyco_hydro_15; Glycosyl hydrolases family 15

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    101557581..101687907 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036161851.1 → XP_036017744.1  phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform X2

    UniProtKB/TrEMBL
    Q8CBA7
    Conserved Domains (1) summary
    pfam00723
    Location:8 → 439
    Glyco_hydro_15; Glycosyl hydrolases family 15

  2. XM_006527894.5 → XP_006527957.1  phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform X1

    UniProtKB/TrEMBL
    A2AI87
    Related
    ENSMUSP00000112529.2, ENSMUST00000122022.8
    Conserved Domains (2) summary
    pfam00723
    Location:9 → 439
    Glyco_hydro_15; Glycosyl hydrolases family 15
    cl25463
    Location:805 → 923
    Glyco_hydro_15; Glycosyl hydrolases family 15

  3. XM_036161852.1 → XP_036017745.1  phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform X4

    UniProtKB/TrEMBL
    Q8CBA7
    Conserved Domains (1) summary
    pfam00723
    Location:8 → 439
    Glyco_hydro_15; Glycosyl hydrolases family 15

  4. XM_006527895.5 → XP_006527958.1  phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform X3

    UniProtKB/TrEMBL
    A2AI87
    Conserved Domains (2) summary
    pfam00723
    Location:9 → 439
    Glyco_hydro_15; Glycosyl hydrolases family 15
    cl25463
    Location:788 → 844
    Glyco_hydro_15; Glycosyl hydrolases family 15

  5. XM_036161853.1 → XP_036017746.1  phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform X5

    Conserved Domains (1) summary
    pfam00723
    Location:352 → 470
    Glyco_hydro_15; Glycosyl hydrolases family 15
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P18826.3 GenPept UniProtKB/Swiss-Prot:P18826

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