Extl1 Gene Summary [Mouse]

Predicted to enable glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity and glucuronosyltransferase activity. Predicted to be involved in heparan sulfate proteoglycan biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including cranium; jaw; limb; nose; and sclerotome. Orthologous to human EXTL1 (exostosin like glycosyltransferase 1). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Extl1
Official Name
exostosin-like glycosyltransferase 1 [Source:MGI Symbol;Acc:MGI:1888742]
Ensembl ID
ENSMUSG00000028838
Bio databases IDs NCBI: 56219 Ensembl: ENSMUSG00000028838
Aliases exostosin-like glycosyltransferase 1
Synonyms D430033M16Rik, exostosin-like glycosyltransferase 1, EXTL
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 Extl1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Exostosin family
  • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
  • ribitol-5-phosphate xylosyltransferase 1, and related proteins
  • Glycosyl transferase family 64 domain
  • enzyme
  • protein binding
  • glucuronosyl-N-acetylglucosaminyl-proteoglycan

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • facioscapulohumeral muscular dystrophy
regulated by
regulates
  • EXTL1
  • heparan sulfate proteoglycan
  • conjugated linoleic acid
  • saturated fatty acid
role in cell
  • proliferation
  • differentiation

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
  • endoplasmic reticulum membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Extl1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • skeletal system development
  • heparan sulfate proteoglycan biosynthetic process
  • protein glycosylation

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • Golgi apparatus

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • acetylglucosaminyltransferase activity
  • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
  • glucuronosyltransferase activity

Gene-Specific Assays for Results You Can Trust

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