Format

Send to:

Choose Destination
    • Showing Current items.

    PHKB phosphorylase kinase regulatory subunit beta [ Homo sapiens (human) ]

    Gene ID: 5257, updated on 8-Jul-2021

    Summary

    Official Symbol
    PHKBprovided by HGNC
    Official Full Name
    phosphorylase kinase regulatory subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:8927
    See related
    Ensembl:ENSG00000102893 MIM:172490
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 18.4), adrenal (RPKM 12.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PHKB in Genome Data Viewer
    Location:
    16q12.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (47461299..47701523)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (47495210..47735434)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene integrin alpha FG-GAP repeat containing 1 Neighboring gene uncharacterized LOC101927080 Neighboring gene RNA, 5S ribosomal pseudogene 424 Neighboring gene Sharpr-MPRA regulatory region 10524 Neighboring gene RNA, 5S ribosomal pseudogene 425 Neighboring gene Rho GTPase activating protein 20 pseudogene Neighboring gene eukaryotic translation initiation factor 4B pseudogene 5 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 pseudogene 11 Neighboring gene uncharacterized LOC105371236 Neighboring gene long intergenic non-protein coding RNA 2192 Neighboring gene long intergenic non-protein coding RNA 2133

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol The beta subunit of phosphorylase kinase is cleaved at leu678-pro679 by HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ41698, DKFZp781E15103

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in glycogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of phosphorylase kinase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    phosphorylase b kinase regulatory subunit beta
    Names
    phosphorylase kinase beta-subunit
    phosphorylase kinase subunit beta
    phosphorylase kinase, beta
    NP_000284.1
    NP_001027005.1
    NP_001350766.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_016598.1 RefSeqGene

      Range
      5033..245225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000293.3NP_000284.1  phosphorylase b kinase regulatory subunit beta isoform a

      See identical proteins and their annotated locations for NP_000284.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC092374, X84908
      Consensus CDS
      CCDS10729.1
      UniProtKB/Swiss-Prot
      Q93100
      Related
      ENSP00000313504.5, ENST00000323584.10
      Conserved Domains (1) summary
      pfam00723
      Location:49470
      Glyco_hydro_15; Glycosyl hydrolases family 15
    2. NM_001031835.3NP_001027005.1  phosphorylase b kinase regulatory subunit beta isoform b

      See identical proteins and their annotated locations for NP_001027005.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional exon in the 5' region and an alternate exon in the 3' region, as compared to variant 1. The resulting isoform (b) is shorter and has an alternate N-terminus and a different segment in the C-terminal region, as compared to isoform a.
      Source sequence(s)
      AC007599, AC092374, BC033657
      Consensus CDS
      CCDS42161.1
      UniProtKB/Swiss-Prot
      Q93100
      Related
      ENSP00000456729.1, ENST00000566044.5
      Conserved Domains (1) summary
      pfam00723
      Location:42463
      Glyco_hydro_15; Glycosyl hydrolases family 15
    3. NM_001363837.1NP_001350766.1  phosphorylase b kinase regulatory subunit beta isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 3' coding region, compared to variant 1. It encodes isoform c, which differs in an internal segment, but has the same length, compared to isoform a.
      Source sequence(s)
      AC092374, BC033657, DC397078, X84908
      Related
      ENSP00000299167.8, ENST00000299167.12
      Conserved Domains (1) summary
      cl25463
      Location:49470
      Glyco_hydro_15; Glycosyl hydrolases family 15

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      47461299..47701523
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center