Ext1 - exostosin glycosyltransferase 1 Gene
Species: Mus musculus
Summary
Enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in heparan sulfate proteoglycan biosynthetic process. Acts upstream of or within with a positive effect on several processes, including glomerular visceral epithelial cell differentiation; heparin biosynthetic process; and nervous system development. Acts upstream of or within with a negative effect on sulfation. Acts upstream of or within several processes, including animal organ development; cell surface receptor signaling pathway; and leukocyte migration. Is integral component of endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; brain; extraembryonic component; genitourinary system; and limb. Used to study autism spectrum disorder and hereditary multiple exostoses. Human ortholog(s) of this gene implicated in chondrosarcoma; hereditary multiple exostoses; and trichorhinophalangeal syndrome type II. Orthologous to human EXT1 (exostosin Glycosyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]
Ext1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_010162.2 | NP_034292.2 | exostosin-1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity |
IDA
IDA: Inferred from direct assay
|
10639137 | MGI |
| enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity |
IGI
IGI: Inferred from genetic interaction
|
10639137 | MGI |
| enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity |
IDA
IDA: Inferred from direct assay
|
10639137 | MGI |
| enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity |
IGI
IGI: Inferred from genetic interaction
|
10639137 | MGI |
| enables glycosyltransferase activity |
IMP
IMP: Inferred from mutant phenotype
|
10926768 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
10639137 | MGI |
| located in endoplasmic reticulum membrane |
IDA
IDA: Inferred from direct assay
|
9620772 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
exostosin-1 |
|
|