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

    Gene ID: 18679, updated on 27-Nov-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 positive regulation of glycogen catabolic process. Predicted to be located in plasma membrane. Predicted to be part of phosphorylase kinase complex. Is expressed in cerebral cortex; diencephalon lateral wall mantle layer; heart; liver; 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, Nov 2024]
    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. 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
    2. Characterization of a Ca2+ -dependent protein kinase in skeletal muscle membranes of I-strain and wild-type mice. Varsànyi M, et al. Eur J Biochem, 1978 Jun 15. PMID 668698
    3. The phosphorylase kinase deficiency (Phk) locus in the mouse: evidence that the mutant allele codes for an enzyme with an abnormal structure. Gross SR, et al. Biochem Genet, 1975 Oct. PMID 1203056
    4. I/Lyn mouse phosphorylase kinase deficiency: mutation disrupts expression of the alpha/alpha'-subunit mRNAs. Bender PK, et al. Proc Natl Acad Sci U S A, 1989 Dec. PMID 2602386, Free PMC Article
    5. The X-chromosome and the enzymes controlling muscle glycogen: phosphorylase kinase. Lyon JB Jr. Biochem Genet, 1970 Feb. PMID 5444100

    See all (46) 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)
    • Endonuclease-mediated (3) 
    • Spontaneous (1)  1 citation

    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
    involved_in glycogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of glycogen catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of glycogen catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    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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