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    PHKA2 phosphorylase kinase regulatory subunit alpha 2 [ Homo sapiens (human) ]

    Gene ID: 5256, updated on 6-Jun-2017
    Official Symbol
    PHKA2provided by HGNC
    Official Full Name
    phosphorylase kinase regulatory subunit alpha 2provided by HGNC
    Primary source
    HGNC:HGNC:8926
    See related
    Ensembl:ENSG00000044446 MIM:300798; Vega:OTTHUMG00000021222
    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
    PHK; PYK; XLG; PYKL; XLG2; GSD9A
    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, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are 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 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
    Orthologs
    Location:
    Xp22.13
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (18892298..18984362, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (18910416..19002480, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 6 pseudogene Neighboring gene HAUS augmin like complex subunit 1 pseudogene 2 Neighboring gene PHKA2 antisense RNA 1 Neighboring gene uncharacterized LOC101928415 Neighboring gene adhesion G protein-coupled receptor G2 Neighboring gene mitogen-activated protein kinase kinase kinase 15 Neighboring gene pyruvate dehydrogenase alpha 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol The alpha subunit of phosphorylase kinase is preferentially cleaved at arg748-val749 by HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    • 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...
    • Type II diabetes mellitus, organism-specific biosystem (from WikiPathways)
      Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC133071

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphorylase kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular protein modification process TAS
    Traceable Author Statement
    more info
    PubMed 
    generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    PubMed 
    glycogen catabolic process TAS
    Traceable Author Statement
    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    phosphorylase b kinase regulatory subunit alpha, liver isoform
    Names
    phosphorylase kinase alpha L subunit
    phosphorylase kinase alpha-subunit
    phosphorylase kinase, alpha 2 (liver)
    NP_000283.1
    XP_005274605.1
    XP_005274607.1
    XP_006724559.1
    XP_006724561.1
    XP_011543839.1
    XP_011543840.1
    XP_016885069.1

    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_016622.1 RefSeqGene

      Range
      5001..97065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000292.2NP_000283.1  phosphorylase b kinase regulatory subunit alpha, liver isoform

      See identical proteins and their annotated locations for NP_000283.1

      Status: REVIEWED

      Source sequence(s)
      BC014036, CD722555, DB458123, W63591, X80497
      Consensus CDS
      CCDS14190.1
      UniProtKB/Swiss-Prot
      P46019
      Related
      ENSP00000369274.4, OTTHUMP00000023007, ENST00000379942.4, OTTHUMT00000055960
      Conserved Domains (1) summary
      pfam00723
      Location:8439
      Glyco_hydro_15; Glycosyl hydrolases family 15

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      18892298..18984362 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545537.2XP_011543839.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X3

      Conserved Domains (1) summary
      pfam00723
      Location:8406
      Glyco_hydro_15; Glycosyl hydrolases family 15
    2. XM_005274550.4XP_005274607.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X4

      Conserved Domains (1) summary
      pfam00723
      Location:8439
      Glyco_hydro_15; Glycosyl hydrolases family 15
    3. XM_005274548.4XP_005274605.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X2

      Conserved Domains (1) summary
      pfam00723
      Location:8439
      Glyco_hydro_15; Glycosyl hydrolases family 15
    4. XM_006724496.3XP_006724559.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X1

      Conserved Domains (1) summary
      pfam00723
      Location:8439
      Glyco_hydro_15; Glycosyl hydrolases family 15
    5. XM_006724498.3XP_006724561.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X5

      Conserved Domains (1) summary
      pfam00723
      Location:1257
      Glyco_hydro_15; Glycosyl hydrolases family 15
    6. XM_017029580.1XP_016885069.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X6

    7. XM_011545538.2XP_011543840.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X7

      Conserved Domains (1) summary
      pfam00723
      Location:463580
      Glyco_hydro_15; Glycosyl hydrolases family 15

    RNA

    1. XR_001755698.1 RNA Sequence

    2. XR_950461.2 RNA Sequence

    3. XR_001755697.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      18941491..19033554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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