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

Gene ID: 102093, updated on 2-Nov-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, Nov 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

Expression

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  • Project title: Mouse ENCODE transcriptome data 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. 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

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