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

Gene ID: 5260, updated on 8-Dec-2018

Summary

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
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

Genomic context

See PHKG1 in Genome Data Viewer
Location:
7p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (56079927..56093450, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (56147616..56160780, 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 small nucleolar RNA, H/ACA box 15 Neighboring gene sulfatase modifying factor 2 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 Neighboring gene nuclear protein 2, transcriptional regulator

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

Pathways from BioSystems

  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Glucagon signaling pathway, organism-specific biosystem (from KEGG)
    Glucagon signaling pathway, organism-specific biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Glucagon signaling pathway, conserved biosystem (from KEGG)
    Glucagon signaling pathway, conserved biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycogen Metabolism, organism-specific biosystem (from WikiPathways)
    Glycogen Metabolism, organism-specific biosystemGlycogen is a very large, branched polymer of glucose residues. Within skeletal muscle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to maint...
  • Glycogen breakdown (glycogenolysis), organism-specific biosystem (from REACTOME)
    Glycogen breakdown (glycogenolysis), organism-specific biosystemCytosolic glycogen breakdown occurs via the same chemical steps in all tissues but is separately regulated via tissue specific isozymes and signaling pathways that enable distinct physiological fates...
  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
    Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin signaling pathway, conserved biosystem (from KEGG)
    Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calmodulin-dependent protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enzyme binding IEA
Inferred from Electronic Annotation
more info
 
phosphorylase kinase activity IEA
Inferred from Electronic Annotation
more info
 
tau-protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
carbohydrate metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
glycogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
phosphorylase kinase complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform
Names
PHK-gamma-M
phosphorylase b kinase gamma catalytic chain, skeletal muscle isoform
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_016867814.1
XP_016867815.1
XP_016867816.1

NCBI Reference Sequences (RefSeq)

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_001258459.1NP_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/Swiss-Prot
    Q16816
    Related
    ENSP00000445440.1, ENST00000452681.6
    Conserved Domains (2) summary
    smart00220
    Location:20320
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:16323
    PKc_like; Protein Kinases, catalytic domain
  2. NM_001258460.1NP_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:20279
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:16282
    PKc_like; Protein Kinases, catalytic domain
  3. NM_006213.4NP_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
    Q16816
    UniProtKB/TrEMBL
    A0A024RDL4
    Related
    ENSP00000297373.2, ENST00000297373.6
    Conserved Domains (2) summary
    smart00220
    Location:20288
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14182
    Location:16291
    STKc_PhKG1; Catalytic domain of the Serine/Threonine Kinase, Phosphorylase kinase Gamma 1 subunit

RNA

  1. NR_047689.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    56079927..56093450 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012324.2XP_016867813.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform X1

  2. XM_005271772.5XP_005271829.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform X5

    Conserved Domains (2) summary
    smart00220
    Location:29210
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:29213
    PKc_like; Protein Kinases, catalytic domain
  3. XM_017012326.2XP_016867815.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform X3

  4. XM_017012325.2XP_016867814.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform X2

  5. XM_017012327.2XP_016867816.1  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform X4

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