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

Gene ID: 5260, updated on 5-Sep-2021

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
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Genomic context

See PHKG1 in Genome Data Viewer
Location:
7p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (56079927..56093450, complement)
105.20201022 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 Sharpr-MPRA regulatory region 2601 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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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 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 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)

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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_001258459.2NP_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_001258460.2NP_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_006213.5NP_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, ENST00000297373.7
    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_047689.2 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: 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_000007.14 Reference GRCh38.p13 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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