EXTL3 Gene Summary [Human]
This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]
Details
| Type | Processed Transcript |
| Official Symbol | EXTL3 |
| Official Name | exostosin like glycosyltransferase 3 [Source:HGNC Symbol;Acc:HGNC:3518] |
| Ensembl ID | ENSG00000012232 |
| Bio databases IDs | |
| Aliases | exostosin like glycosyltransferase 3, REG receptor, glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase |
| Synonyms | 2900009G18Rik, AU040105, BOTV, exostosin-like glycosyltransferase 3, Ext1l, EXTL1L, EXTR1, ISDNA, LOC102549615, LOC105379344, LOC105379345, mKIAA0519, REGR, RPR |
| 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 EXTL3 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
- glucuronyl-galactosyl-proteoglycan
- ribitol-5-phosphate xylosyltransferase 1, and related proteins
- Glycosyl transferase family 64 domain
- acetylglucosaminyltransferase
- protein-hormone receptor
- enzyme
- protein binding
- glycosyltransferase
- magnesium ion binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- immunoskeletal dysplasia with neurodevelopmental abnormalities
- myocardial infarction
- acute myeloid leukemia
- depressive disorder
role in cell
- differentiation
- generation in
- proliferation
- growth
- binding
- internalization by
- outgrowth in
- outgrowth
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
- cell surface
- Plasma Membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EXTL3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of keratinocyte proliferation
- positive regulation of cell growth
- negative regulation of keratinocyte differentiation
- heparan sulfate proteoglycan biosynthetic process
- negative regulation of inflammatory response
- protein glycosylation
- positive regulation of detection of glucose
- negative regulation of cytokine production involved in inflammatory response
- positive regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nucleus
- endoplasmic reticulum
- Golgi apparatus
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- transferase activity, transferring glycosyl groups
- protein binding
- glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
- protein-hormone receptor activity