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

Gene ID: 5260, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (56080295..56092952, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (56240116..56252768, complement)
105.20220307 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
  • 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. 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
  2. A comparison of the properties of the binary and ternary complexes formed by calmodulin and troponin C with two regulatory peptides of phosphorylase kinase. Steiner RF, et al. Biophys Chem, 1996 Apr 16. PMID 8672716
  3. Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1). Wehner M, et al. Hum Genet, 1995 Nov. PMID 8530014
  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. 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

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 Variation Viewer (GRCh37.p13)

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 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 glycogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in 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 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_2023_10

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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