Phka1 Gene Summary [Mouse]

Predicted to enable calmodulin binding activity. Predicted to be involved in positive regulation of glycogen catabolic process. Predicted to be located in plasma membrane. Predicted to be part of phosphorylase kinase complex. Is expressed in cerebral cortex; diencephalon lateral wall mantle layer; heart; liver; and midbrain mantle layer. Used to study glycogen storage disease IXd. Human ortholog(s) of this gene implicated in glycogen storage disease and glycogen storage disease IXd. Orthologous to human PHKA1 (phosphorylase kinase regulatory subunit alpha 1). [provided by Alliance of Genome Resources, Apr 2025]

Details

Type
Protein Coding
Official Symbol
Phka1
Official Name
phosphorylase kinase alpha 1 [Source:MGI Symbol;Acc:MGI:97576]
Ensembl ID
ENSMUSG00000034055
Bio databases IDs NCBI: 18679 Ensembl: ENSMUSG00000034055
Aliases phosphorylase kinase alpha 1
Synonyms 5330411D17, 9830108K24Rik, Pcyt1b, PHKA, phosphorylase kinase alpha 1, phosphorylase kinase regulatory subunit alpha 1, phosphorylase kinase regulatory subunit α 1, phosphorylase kinase α 1
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Phka1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • kinase
  • choline-phosphate cytidylyltransferase
  • protein binding
  • phosphorylase kinase

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • muscle glycogenosis X-linked
  • glycogen storage disease type IX
regulated by
regulates
  • PHK
  • glycogen
  • phosphatidylcholine
role in cell
  • 5-fluorouracil resistance

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Plasma Membrane
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Phka1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • generation of precursor metabolites and energy
  • glycogen metabolic process
  • positive regulation of glycogen catabolic process

Cellular Component

Where in the cell the gene product is active
  • phosphorylase kinase complex
  • cytosol
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • phosphorylase kinase activity
  • calmodulin binding

Gene-Specific Assays for Results You Can Trust

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