Gmppa Gene Summary [Mouse]

Predicted to enable enzyme regulator activity and molecular sensor activity. Involved in negative regulation of metabolic process. Acts upstream of or within several processes, including GDP-mannose biosynthetic process; motor behavior; and protein glycosylation. Predicted to be part of GDP-mannose pyrophosphorylase complex. Predicted to be active in cytosol. Is expressed in several structures, including adrenal gland; alimentary system; central nervous system; eye; and gonad. Used to study alacrima, achalasia, and impaired intellectual development syndrome. Human ortholog(s) of this gene implicated in alacrima, achalasia, and impaired intellectual development syndrome. Orthologous to human GMPPA (GDP-mannose pyrophosphorylase A). [provided by Alliance of Genome Resources, Apr 2025]

Details

Type
Protein Coding
Official Symbol
Gmppa
Official Name
GDP-mannose pyrophosphorylase A [Source:MGI Symbol;Acc:MGI:1916330]
Ensembl ID
ENSMUSG00000033021
Bio databases IDs NCBI: 69080 Ensembl: ENSMUSG00000033021
Aliases GDP-mannose pyrophosphorylase A
Synonyms 1810012N01Rik, AAMR, GDP-mannose pyrophosphorylase A
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 Gmppa often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Bacterial transferase hexapeptide (six repeats)
  • mannose-1-phosphate guanylyltransferase
  • archaeal GlmU
  • LbetaH
  • mannose-1-phosphate guanylyltransferase (GDP)
  • enzyme inhibitor activity
  • enzyme binding
  • enzyme
  • enzyme regulator activity
  • protein binding
  • glycosyltransferase family A
  • glucose-1-phosphate thymidylylransferase, long form

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • centronuclear myopathy
  • alacrima, achalasia, and mental retardation syndrome
  • myopathy
  • progressive muscle weakness
regulated by
regulates
  • GDP-D-mannose
  • glycoprotein
role in cell
  • apoptosis
  • abnormal morphology
  • degeneration
  • diameter

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
  • cytosol

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • biosynthetic process

Cellular Component

Where in the cell the gene product is active
  • extracellular vesicular exosome
  • cytoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • transferase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.