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PHKA1 phosphorylase kinase regulatory subunit alpha 1 [ Homo sapiens (human) ]

Gene ID: 5255, updated on 23-Nov-2021

Summary

Official Symbol
PHKA1provided by HGNC
Official Full Name
phosphorylase kinase regulatory subunit alpha 1provided by HGNC
Primary source
HGNC:HGNC:8925
See related
Ensembl:ENSG00000067177 MIM:311870
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]
Expression
Ubiquitous expression in adrenal (RPKM 5.8), thyroid (RPKM 4.1) and 24 other tissues See more
Orthologs
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Genomic context

See PHKA1 in Genome Data Viewer
Location:
Xq13.1
Exon count:
32
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (72578814..72714306, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (71798664..71934154, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373250 Neighboring gene Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 Neighboring gene histone deacetylase 8 Neighboring gene RNA, U2 small nuclear 68, pseudogene Neighboring gene MATR3 pseudogene 1 Neighboring gene PHKA1 antisense RNA 1 Neighboring gene RNA, U1 small nuclear 112, pseudogene Neighboring gene CAPZA1 pseudogene 3

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

Bibliography

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC132604

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphorylase kinase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
involved_in glycogen metabolic 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
Names
phosphorylase kinase alpha M subunit
phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis
NP_001116142.1
NP_001165907.1
NP_002628.2
XP_006724724.1

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.

Genomic

  1. NG_016599.2 RefSeqGene

    Range
    4876..140368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for 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)
    AC240504, AW450116, BC104944, BJ998054, BX647542, DR002787, X73874
    Consensus CDS
    CCDS48137.1
    UniProtKB/Swiss-Prot
    P46020
    Related
    ENSP00000342469.3, ENST00000339490.7
    Conserved Domains (1) summary
    pfam00723
    Location:8439
    Glyco_hydro_15; Glycosyl hydrolases family 15
  2. NM_001172436.2NP_001165907.1  phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 3

    See identical proteins and their annotated locations for 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)
    AC240504, AW450116, BC143501, BX647542, DA171597, DA998603, DR002787
    Consensus CDS
    CCDS55453.1
    UniProtKB/Swiss-Prot
    P46020
    Related
    ENSP00000441251.1, ENST00000541944.5
    Conserved Domains (1) summary
    pfam00723
    Location:8439
    Glyco_hydro_15; Glycosyl hydrolases family 15
  3. NM_002637.4NP_002628.2  phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 1

    See identical proteins and their annotated locations for NP_002628.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC240504, AW450116, BC104944, BJ998054, BX647542, DR002787, X73874
    Consensus CDS
    CCDS14421.1
    UniProtKB/Swiss-Prot
    P46020
    Related
    ENSP00000362643.4, ENST00000373542.9
    Conserved Domains (1) summary
    pfam00723
    Location:8439
    Glyco_hydro_15; Glycosyl hydrolases family 15

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    72578814..72714306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724661.2XP_006724724.1  phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform X1

    Related
    ENSP00000362646.3, ENST00000373545.7
    Conserved Domains (1) summary
    pfam00723
    Location:8439
    Glyco_hydro_15; Glycosyl hydrolases family 15

RNA

  1. XR_001755696.1 RNA Sequence

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