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PHKA1 phosphorylase kinase, alpha 1 (muscle) [ Homo sapiens (human) ]

Gene ID: 5255, updated on 21-Oct-2014
Official Symbol
PHKA1provided by HGNC
Official Full Name
phosphorylase kinase, alpha 1 (muscle)provided by HGNC
Primary source
HGNC:HGNC:8925
See related
Ensembl:ENSG00000067177; HPRD:02415; MIM:311870; Vega:OTTHUMG00000022696
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
PHKA
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 skeletal muscle 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 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]
See PHKA1 in Epigenomics, MapViewer
Location:
Xq12-q13
Exon count:
32
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (72578814..72714181, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (71798664..71934029, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 Neighboring gene histone deacetylase 8 Neighboring gene matrin 3 pseudogene Neighboring gene uncharacterized LOC101928259 Neighboring gene capping protein (actin filament) muscle Z-line, alpha 1 pseudogene Neighboring gene family with sequence similarity 226, member B (non-protein coding) Neighboring gene DMRT-like family C1B

Related articles in PubMed

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...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • 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 musle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to mainta...
  • 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...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • 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...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC132604

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
hydrolase activity, hydrolyzing O-glycosyl compounds IEA
Inferred from Electronic Annotation
more info
 
phosphorylase kinase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
glucose metabolic process TAS
Traceable Author Statement
more info
 
glycogen catabolic process TAS
Traceable Author Statement
more info
 
glycogen metabolic process TAS
Traceable Author Statement
more info
PubMed 
protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
Names
phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
phosphorylase kinase alpha M subunit
phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis
phosphorylase b kinase regulatory subunit alpha skeletal muscle isoform
NP_001116142.1
NP_001165907.1
NP_002628.2

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_016599.1 

    Range
    5001..140366
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001122670.1NP_001116142.1  phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 2

    See proteins identical to NP_001116142.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AW450116, BC104944, BJ998054, BX647542, DR002787, X73874
    Consensus CDS
    CCDS48137.1
    UniProtKB/Swiss-Prot
    P46020
    Related
    ENSP00000342469, ENST00000339490
    Conserved Domains (1) summary
    pfam00723
    Location:8439
    Glyco_hydro_15; Glycosyl hydrolases family 15
  2. NM_001172436.1NP_001165907.1  phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 3

    See proteins identical to NP_001165907.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the middle and 3' coding regions, respectively, compared to variant 1, resulting in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AW450116, BC143501, BX647542, DA171597, DA998603, DR002787
    Consensus CDS
    CCDS55453.1
    UniProtKB/Swiss-Prot
    P46020
    Related
    ENSP00000441251, ENST00000541944
    Conserved Domains (1) summary
    pfam00723
    Location:8439
    Glyco_hydro_15; Glycosyl hydrolases family 15
  3. NM_002637.3NP_002628.2  phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 1

    See proteins identical to NP_002628.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AW450116, BC104944, BJ998054, BX647542, DR002787, X73874
    Consensus CDS
    CCDS14421.1
    UniProtKB/Swiss-Prot
    P46020
    Related
    ENSP00000362643, OTTHUMP00000024287, ENST00000373542, OTTHUMT00000058896
    Conserved Domains (1) summary
    pfam00723
    Location:8439
    Glyco_hydro_15; Glycosyl hydrolases family 15

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    72578814..72714181
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724661.1XP_006724724.1  

    Related
    ENSP00000362646, OTTHUMP00000024288, ENST00000373545, OTTHUMT00000058897
    Conserved Domains (1) summary
    pfam00723
    Location:8439
    Glyco_hydro_15; Glycosyl hydrolases family 15

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    65553170..65688660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    71691651..71827294
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)