Poglut1 Gene Summary [Mouse]

This gene encodes a protein that can catalyze transfer of either UDP-glucose or UDP-xylose to epidermal growth factor (EGF) repeats, such as those found in Notch. Loss of this gene product results in embryonic lethality. Embryos have neural plate defects, heart defects, and truncations of their posterior axis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Details

Type
Protein Coding
Official Symbol
Poglut1
Official Name
protein O-glucosyltransferase 1 [Source:MGI Symbol;Acc:MGI:2444232]
Ensembl ID
ENSMUSG00000034064
Bio databases IDs NCBI: 224143 Ensembl: ENSMUSG00000034064
Aliases protein O-glucosyltransferase 1
Synonyms 9630046K23Rik, C3orf9, CLP46, hCLP46, KDELCL1, KTELC1, LGMD2Z, LGMDR21, MDS010, MDSRP, protein O-glucosyltransferase 1, RGD1306248, Rumi, wsnp
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 Poglut1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • glucosyltransferase
  • Glycosyl transferase family 90
  • enzyme
  • protein binding
  • xylosyltransferase
  • UDP-glycosyltransferase
  • UDP-glucosyltransferase activity

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • limb-girdle muscular dystrophy type 2Z
  • Dowling-Degos disease type 4
  • primary biliary cirrhosis
  • limb-girdle muscular dystrophy type 2
regulates

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • Endoplasmic Reticulum
  • endoplasmic reticulum lumen

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Poglut1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of gastrulation
  • protein O-linked glycosylation
  • somitogenesis
  • protein O-linked glycosylation via serine
  • paraxial mesoderm development
  • muscle tissue development
  • circulatory system development
  • positive regulation of Notch signaling pathway
  • axial mesoderm development
  • gastrulation

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum lumen
  • endomembrane system
  • endoplasmic reticulum

Molecular Function

What the gene product does at the molecular level
  • UDP-glucosyltransferase activity
  • UDP-xylosyltransferase activity
  • glucosyltransferase activity

Gene-Specific Assays for Results You Can Trust

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