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    PHKG1 phosphorylase kinase catalytic subunit gamma 1 [ Homo sapiens (human) ]

    Gene ID: 5260, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PHKG1provided by HGNC
    Official Full Name
    phosphorylase kinase catalytic subunit gamma 1provided by HGNC
    Primary source
    HGNC:HGNC:8930
    See related
    Ensembl:ENSG00000164776 MIM:172470; AllianceGenome:HGNC:8930
    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
    Also known as
    PHKG
    Summary
    This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
    Expression
    Ubiquitous expression in prostate (RPKM 8.4), thyroid (RPKM 7.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PHKG1 in Genome Data Viewer
    Location:
    7p11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (56080295..56092952, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (56240116..56252768, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (56147988..56160645, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene chaperonin containing TCP1 subunit 6A Neighboring gene small nucleolar RNA, H/ACA box 22B Neighboring gene Sharpr-MPRA regulatory region 2601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18195 Neighboring gene small nucleolar RNA, H/ACA box 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26050 Neighboring gene Sharpr-MPRA regulatory region 7863 Neighboring gene sulfatase modifying factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26052 Neighboring gene uncharacterized LOC124901852 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:56171568-56172068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:56172069-56172569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26053 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Localisation of the gene encoding the catalytic gamma subunit of phosphorylase kinase to human chromosome bands 7p12-q21. Jones TA, et al. Biochim Biophys Acta, 1990 Jan 30. PMID 2297530
    2. In Silico characterization of phosphorylase kinase: evidence for an alternate intronic polyadenylation site in PHKG1. Winchester JS, et al. Mol Genet Metab, 2007 Nov. PMID 17692548, Free PMC Article
    3. Oxidation and site-directed mutagenesis of the sulfhydryl groups of a truncated gamma catalytic subunit of phosphorylase kinase. Functional and structural effects. Yuan CJ, et al. J Biol Chem, 1994 Sep 30. PMID 7929096
    4. Preparation and functional characterization of a catalytically active fragment of phosphorylase kinase. Malencik DA, et al. Mol Cell Biochem, 1993 Nov. PMID 7935360
    5. Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1). Wehner M, et al. Hum Genet, 1995 Nov. PMID 8530014

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lung adenocarcinoma-derived vWF promotes tumor metastasis by regulating PHKG1-mediated glycogen metabolism.
      Title: Lung adenocarcinoma-derived vWF promotes tumor metastasis by regulating PHKG1-mediated glycogen metabolism.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphorylase kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphorylase kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables tau-protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycogen metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of phosphorylase kinase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of phosphorylase kinase complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform
    Names
    PHK-gamma-M
    phosphorylase kinase gamma subunit 1
    phosphorylase kinase subunit gamma-1
    phosphorylase kinase, gamma 1 (muscle)
    serine/threonine-protein kinase PHKG1
    NP_001245388.1
    NP_001245389.1
    NP_006204.1
    XP_005271829.1
    XP_016867813.1
    XP_016867815.1
    XP_016867816.1
    XP_054214382.1
    XP_054214383.1
    XP_054214384.1

    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_001258459.2 → NP_001245388.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AC092101, AK293180
      Consensus CDS
      CCDS59057.1
      UniProtKB/TrEMBL
      B2R757, Q6NSZ4
      Related
      ENSP00000445440.1, ENST00000452681.6
      Conserved Domains (2) summary
      smart00220
      Location:20 → 320
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:16 → 323
      PKc_like; Protein Kinases, catalytic domain

    2. NM_001258460.2 → NP_001245389.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site and lacks an alternate in-frame exon compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.
      Source sequence(s)
      AC092101, AK300928
      UniProtKB/TrEMBL
      B7Z6U2
      Conserved Domains (2) summary
      smart00220
      Location:20 → 279
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:16 → 282
      PKc_like; Protein Kinases, catalytic domain

    3. NM_006213.5 → NP_006204.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform 2

      See identical proteins and their annotated locations for NP_006204.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      BC051327, DB171823
      Consensus CDS
      CCDS5525.1
      UniProtKB/Swiss-Prot
      B7Z1D0, F5H2S1, Q16816, Q75LP5
      UniProtKB/TrEMBL
      B2R757
      Related
      ENSP00000297373.2, ENST00000297373.7
      Conserved Domains (2) summary
      smart00220
      Location:20 → 288
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14182
      Location:16 → 291
      STKc_PhKG1; Catalytic domain of the Serine/Threonine Kinase, Phosphorylase kinase Gamma 1 subunit

    RNA

    1. NR_047689.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC092101, AK299429

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      56080295..56092952 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271772.6 → XP_005271829.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform X4

      UniProtKB/TrEMBL
      B7Z6U2
      Conserved Domains (2) summary
      smart00220
      Location:29 → 210
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:29 → 213
      PKc_like; Protein Kinases, catalytic domain

    2. XM_017012326.3 → XP_016867815.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform X2

      UniProtKB/TrEMBL
      B7Z6U2

    3. XM_017012324.3 → XP_016867813.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform X1

      UniProtKB/TrEMBL
      B2R757

    4. XM_017012327.3 → XP_016867816.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform X3

      UniProtKB/TrEMBL
      B7Z5U3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      56240116..56252768 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358409.1 → XP_054214384.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform X4

    2. XM_054358408.1 → XP_054214383.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform X2

    3. XM_054358407.1 → XP_054214382.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16816.3 GenPept UniProtKB/Swiss-Prot:Q16816

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