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 | |
| 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 |
| Orthologies |
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.
regulates
disease
- limb-girdle muscular dystrophy type 2Z
- Dowling-Degos disease type 4
- primary biliary cirrhosis
- limb-girdle muscular dystrophy type 2
phenotypes
- abnormal embryo size
- embryonic lethality prior to organogenesis
- preweaning lethality complete penetrance
- abnormal cardiogenic plate morphology
- abnormal developmental patterning
- abnormal dorsal aorta morphology
- abnormal ectoderm development
- abnormal heart development
- abnormal mesoderm development
- abnormal neural fold formation
- abnormal neural plate morphology
- abnormal vascular development
- abnormal vitelline vascular remodeling
- abnormal vitelline vasculature morphology
- absent intersomitic vessels
- absent somites
- cardia bifida
- caudal body truncation
- decreased axial mesoderm size
- decreased embryo size
- decreased paraxial mesoderm size
- embryonic growth arrest
- embryonic growth retardation
- embryonic lethality between somite formation and embryo turning complete penetrance
- embryonic lethality during organogenesis complete penetrance
- failure of initiation of embryo turning
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