ST3GAL5 - ST3 beta-galactoside alpha-2,3-sialyltransferase 5 Gene
Also Known as SATI; SIAT9; SPDRS; ST3GalV; SIATGM3S; ST3Gal V
Species: Homo sapiens
About ST3GAL5
This gene has 69 transcripts (splice variants), 198 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in adrenal (RPKM 17.6), thyroid (RPKM 16.1) and 23 other tissues.
Summary
Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of Glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ST3GAL5 Products (13)
| mRNA | Protein | Name |
|---|---|---|
| NM_001042437.2 | NP_001035902.1 | lactosylceramide alpha-2,3-sialyltransferase isoform 2 |
| NM_001354223.2 | NP_001341152.1 | lactosylceramide alpha-2,3-sialyltransferase isoform 3 |
| NM_001354224.2 | NP_001341153.1 | lactosylceramide alpha-2,3-sialyltransferase isoform 3 |
| NM_001354226.2 | NP_001341155.1 | lactosylceramide alpha-2,3-sialyltransferase isoform 3 |
| NM_001354227.2 | NP_001341156.1 | lactosylceramide alpha-2,3-sialyltransferase isoform 4 |
| NM_001354229.2 | NP_001341158.1 | lactosylceramide alpha-2,3-sialyltransferase isoform 4 |
| NM_001354233.2 | NP_001341162.1 | lactosylceramide alpha-2,3-sialyltransferase isoform 3 |
| NM_001354234.1 | NP_001341163.1 | lactosylceramide alpha-2,3-sialyltransferase isoform 3 |
| NM_001354238.1 | NP_001341167.1 | lactosylceramide alpha-2,3-sialyltransferase isoform 4 |
| NM_001354247.1 | NP_001341176.1 | lactosylceramide alpha-2,3-sialyltransferase isoform 5 |
| NM_001354248.1 | NP_001341177.1 | lactosylceramide alpha-2,3-sialyltransferase isoform 3 |
| NM_001363847.1 | NP_001350776.1 | lactosylceramide alpha-2,3-sialyltransferase isoform 6 |
| NM_003896.4 | NP_003887.3 | lactosylceramide alpha-2,3-sialyltransferase isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables lactosylceramide alpha-2,3-sialyltransferase activity |
IDA
IDA: Inferred from direct assay
|
9822625 | GOA |
ST3GAL5 Protein Structure
Glyco_transf_29: Glycosyltransferase family 29 (sialyltransferase) (147 - 412)
- 0
- 100
- 200
- 300
- 400
- 418 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
lactosylceramide alpha-2,3-sialyltransferase |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Salt And Pepper Developmental Regression Syndrome |
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| Salt And Pepper Syndrome |
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| Infantile Epilepsy Syndrome |
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| Developmental And Epileptic Encephalopathy 15 |
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| Cortical Blindness |
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| Epilepsy |
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| West Syndrome |
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| Hereditary Spastic Paraplegia |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | ST3GAL5 | VGNC | VGNC:65723 |
| Rattus norvegicus | ST3GAL5 | RGD | RGD:620875 |
| Bos taurus | ST3GAL5 | VGNC | VGNC:35334 |
| Macaca mulatta | ST3GAL5 | VGNC | VGNC:77833 |
| Mus musculus | ST3GAL5 | MGD | MGI:1339963 |
| Canis familiaris | ST3GAL5 | VGNC | VGNC:46853 |
| Others | ST3GAL5 | NCBI |