EXTL1 Gene Summary [Human]
This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | EXTL1 |
| Official Name | exostosin like glycosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:3515] |
| Ensembl ID | ENSG00000158008 |
| Bio databases IDs | |
| Aliases | exostosin like glycosyltransferase 1, glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, alpha-N-acetylglucosaminyltransferase II, glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase, exostosin-L |
| Synonyms | D430033M16Rik, exostosin-like glycosyltransferase 1, EXTL |
| Species | Human, Homo sapiens |
| 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 human 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.
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 human 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