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    Phkb phosphorylase kinase beta [ Mus musculus (house mouse) ]

    Gene ID: 102093, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Phkbprovided by MGI
    Official Full Name
    phosphorylase kinase betaprovided by MGI
    Primary source
    MGI:MGI:97578
    See related
    Ensembl:ENSMUSG00000036879 AllianceGenome:MGI:97578
    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
    Summary
    Predicted to enable calmodulin binding activity. Involved in glucose homeostasis and 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; gut; heart; and liver. Used to study glycogen storage disease IXb. Human ortholog(s) of this gene implicated in glycogen storage disease IXb. Orthologous to human PHKB (phosphorylase kinase regulatory subunit beta). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 6.6), limb E14.5 (RPKM 4.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Phkb in Genome Data Viewer
    Location:
    8 C3; 8 41.61 cM
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (86567489..86790883)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (85840853..86064251)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39214 Neighboring gene integrin alpha FG-GAP repeat containing 1 Neighboring gene STARR-seq mESC enhancer starr_22171 Neighboring gene ATP synthase, H+ transporting, mitochondrial F1F0 complex, subunit E, pseudogene 1 Neighboring gene potassium channel tetramerisation domain containing 7 pseudogene Neighboring gene STARR-seq mESC enhancer starr_22173 Neighboring gene STARR-seq mESC enhancer starr_22174 Neighboring gene kallikrein related-peptidase 7 (chymotryptic, stratum corneum) pseudogene Neighboring gene STARR-seq mESC enhancer starr_22175 Neighboring gene STARR-seq mESC enhancer starr_22176 Neighboring gene crumbs homolog 1 pseudogene Neighboring gene splicing factor 3a, subunit 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis. Arends CJ, et al. Int J Mol Sci, 2022 Sep 1. PMID 36077341, Free PMC Article
    2. The regulatory beta subunit of phosphorylase kinase interacts with glyceraldehyde-3-phosphate dehydrogenase. Boulatnikov IG, et al. Biochemistry, 2008 Jul 8. PMID 18549242, Free PMC Article
    3. Isoform diversity of phosphorylase kinase alpha and beta subunits generated by alternative RNA splicing. Harmann B, et al. J Biol Chem, 1991 Aug 25. PMID 1874721
    4. Isolation of cDNA clones for the catalytic gamma subunit of mouse muscle phosphorylase kinase: expression of mRNA in normal and mutant Phk mice. Chamberlain JS, et al. Proc Natl Acad Sci U S A, 1987 May. PMID 3472241, Free PMC Article
    5. Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing. Zhang Z, et al. Sci Rep, 2017 Nov 1. PMID 29093530, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis.
      Title: A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis.
    2. The interactions described herein between the beta subunit of PhK and GAPDH provide a possible mechanism for the direct linkage of glycogenolysis and glycolysis in skeletal muscle.
      Title: The regulatory beta subunit of phosphorylase kinase interacts with glyceraldehyde-3-phosphate dehydrogenase.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    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

    Clone Names

    • MGC62514

    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 glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glycogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of glycogen catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 beta
    NP_001351340.1
    NP_001351341.1
    NP_001390846.1
    NP_001390847.1
    NP_001390848.1
    NP_001390849.1
    NP_001390850.1
    NP_955517.1
    XP_006530596.1
    XP_006530600.1
    XP_036009591.1

    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_001364411.2 → NP_001351340.1  phosphorylase b kinase regulatory subunit beta isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC116323, AC117185, AC122830
      Conserved Domains (1) summary
      cl25463
      Location:2 → 290
      Glyco_hydro_15; Glycosyl hydrolases family 15

    2. NM_001364412.2 → NP_001351341.1  phosphorylase b kinase regulatory subunit beta isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC116323, AC117185, AC122830
      Conserved Domains (1) summary
      cl25463
      Location:49 → 349
      Glyco_hydro_15; Glycosyl hydrolases family 15

    3. NM_001403917.1 → NP_001390846.1  phosphorylase b kinase regulatory subunit beta isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC116323, AC117185, AC122830
      UniProtKB/Swiss-Prot
      Q7TSH2

    4. NM_001403918.1 → NP_001390847.1  phosphorylase b kinase regulatory subunit beta isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC116323, AC117185, AC122830
      UniProtKB/Swiss-Prot
      Q7TSH2

    5. NM_001403919.1 → NP_001390848.1  phosphorylase b kinase regulatory subunit beta isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC116323, AC117185, AC122830

    6. NM_001403920.1 → NP_001390849.1  phosphorylase b kinase regulatory subunit beta isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC116323, AC117185, AC122830

    7. NM_001403921.1 → NP_001390850.1  phosphorylase b kinase regulatory subunit beta isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC116323, AC117185, AC122830
      UniProtKB/TrEMBL
      A0AAQ4VMQ4
      Related
      ENSMUSP00000159953.1, ENSMUST00000249857.1

    8. NM_199446.3 → NP_955517.1  phosphorylase b kinase regulatory subunit beta isoform 1

      See identical proteins and their annotated locations for NP_955517.1

      Status: VALIDATED

      Source sequence(s)
      AC116323, AC117185, AC122830
      Consensus CDS
      CCDS22501.1
      UniProtKB/Swiss-Prot
      Q7TSH2
      Related
      ENSMUSP00000050788.8, ENSMUST00000053771.14
      Conserved Domains (1) summary
      cl25463
      Location:41 → 462
      Glyco_hydro_15; Glycosyl hydrolases family 15

    RNA

    1. NR_175780.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC116323, AC117185, AC122830

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      86567489..86790883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530533.5 → XP_006530596.1  phosphorylase b kinase regulatory subunit beta isoform X2

      See identical proteins and their annotated locations for XP_006530596.1

      UniProtKB/Swiss-Prot
      Q7TSH2
      Conserved Domains (1) summary
      cl25463
      Location:41 → 462
      Glyco_hydro_15; Glycosyl hydrolases family 15

    2. XM_036153698.1 → XP_036009591.1  phosphorylase b kinase regulatory subunit beta isoform X3

      UniProtKB/TrEMBL
      A0AAQ4VMP1
      Related
      ENSMUSP00000159954.1, ENSMUST00000249858.1
      Conserved Domains (1) summary
      pfam00723
      Location:41 → 462
      Glyco_hydro_15; Glycosyl hydrolases family 15

    3. XM_006530537.5 → XP_006530600.1  phosphorylase b kinase regulatory subunit beta isoform X4

      Conserved Domains (1) summary
      cl25463
      Location:519 → 646
      Glyco_hydro_15; Glycosyl hydrolases family 15

    RNA

    1. XR_001778385.3 RNA Sequence

    2. XR_878767.4 RNA Sequence

    3. XR_001778386.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TSH2.1 GenPept UniProtKB/Swiss-Prot:Q7TSH2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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