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

    Gene ID: 5257, updated on 10-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:8927
    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
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    Genomic context

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    See PHKB in Genome Data Viewer
    Location:
    16q12.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (47461299..47701523)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (53258117..53498326)
    RS_2024_09 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 OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:47400037-47400780 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:47420489-47420989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:47458564-47459064 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7451 Neighboring gene RNA, 5S ribosomal pseudogene 424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:47526014-47526536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10786 Neighboring gene Sharpr-MPRA regulatory region 10524 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:47533988-47534155 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 NANOG hESC enhancer GRCh37_chr16:47660051-47660552 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 pseudogene 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:47752345-47752845 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:47767625-47768824 Neighboring gene uncharacterized LOC105371236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10788 Neighboring gene NANOG hESC enhancer GRCh37_chr16:47882414-47883106 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:47898419-47899379 Neighboring gene long intergenic non-protein coding RNA 2192 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:47920785-47921984 Neighboring gene long intergenic non-protein coding RNA 2133

    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. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Burwinkel B, et al. Hum Mol Genet, 1997 Jul. PMID 9215682
    2. Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB). van den Berg IE, et al. Am J Hum Genet, 1997 Sep. PMID 9326319, Free PMC Article
    3. Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). Burwinkel B, et al. Hum Genet, 1997 Dec. PMID 9402963
    4. Phosphorylase kinase β affects colorectal cancer cell growth and represents a novel prognostic biomarker. Wang G, et al. J Cancer Res Clin Oncol, 2017 Jun. PMID 28275865
    5. Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease. Burwinkel B, et al. J Mol Biol, 1998 Apr 3. PMID 9533876

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PHKB acts as a novel prognostic indicator for HCC, which exerts its suppression function via inactivating AKT and STAT3.
      Title: Phosphorylase Kinase β Represents a Novel Prognostic Biomarker and Inhibits Malignant Phenotypes of Liver Cancer Cell.
    2. PHKb affects colorectal cancer cell growth and represents a novel prognostic biomarker.
      Title: Phosphorylase kinase β affects colorectal cancer cell growth and represents a novel prognostic biomarker.
    3. Analysis showed that the glycogen phosphorylase kinase beta-subunit (PHKB) interacted with the C-terminal region of KIAA1199 protein.
      Title: KIAA1199 interacts with glycogen phosphorylase kinase β-subunit (PHKB) to promote glycogen breakdown and cancer cell survival.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. alpha- and beta-subunits possess amino-terminal glucoamylase-like domains and suggests that they might possess a previously overlooked amylase activity
      Title: Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Glycogen storage disease IXb
    MedGen: C0543514 OMIM: 261750 GeneReviews: Phosphorylase Kinase Deficiency
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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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

    • 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
    		  
    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
    		  
    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
    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)

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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.

    Genomic

    1. NG_016598.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000293.3 → NP_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
      Q8N4T5, Q93100
      Related
      ENSP00000313504.5, ENST00000323584.10
      Conserved Domains (1) summary
      pfam00723
      Location:49 → 470
      Glyco_hydro_15; Glycosyl hydrolases family 15

    2. NM_001031835.3 → NP_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:42 → 463
      Glyco_hydro_15; Glycosyl hydrolases family 15

    3. NM_001363837.1 → NP_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
      Consensus CDS
      CCDS92152.1
      Related
      ENSP00000299167.8, ENST00000299167.12
      Conserved Domains (1) summary
      cl25463
      Location:49 → 470
      Glyco_hydro_15; Glycosyl hydrolases family 15

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      53258117..53498326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q93100.3 GenPept UniProtKB/Swiss-Prot:Q93100

    Gene LinkOut

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

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