ST3GAL3 - ST3 beta-galactoside alpha-2,3-sialyltransferase 3 Gene
Also Known as ST3N; DEE15; MRT12; SIAT6; EIEE15; ST3GALII; ST3GalIII; ST3Gal III
Species: Homo sapiens
About ST3GAL3
This gene has 85 transcripts (splice variants), 254 orthologues, 14 paralogues and is associated with 5 phenotypes. Broad expression in testis (RPKM 4.7), fat (RPKM 2.9) and 25 other tissues.
Summary
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of Glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
ST3GAL3 Products (23)
| mRNA | Protein | Name |
|---|---|---|
| NM_001270459.2 | NP_001257388.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform k |
| NM_001270460.2 | NP_001257389.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform l |
| NM_001270461.3 | NP_001257390.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform m |
| NM_001270462.3 | NP_001257391.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform n |
| NM_001270463.3 | NP_001257392.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform o |
| NM_001270464.3 | NP_001257393.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform p |
| NM_001270465.3 | NP_001257394.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform q |
| NM_001270466.3 | NP_001257395.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform r |
| NM_001350619.2 | NP_001337548.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform s |
| NM_001350620.2 | NP_001337549.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform t |
| NM_001350621.2 | NP_001337550.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform u |
| NM_001363573.2 | NP_001350502.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform v |
| NM_001410781.1 | NP_001397710.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform w |
| NM_006279.5 | NP_006270.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform j |
| NM_174963.5 | NP_777623.2 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform a |
| NM_174964.4 | NP_777624.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform b |
| NM_174965.4 | NP_777625.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform c |
| NM_174966.4 | NP_777626.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform d |
| NM_174967.4 | NP_777627.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform e |
| NM_174968.5 | NP_777628.2 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform f |
| NM_174969.4 | NP_777629.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform g |
| NM_174970.4 | NP_777630.1 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform h |
| NM_174971.5 | NP_777631.2 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform i |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32814053 | GOA |
ST3GAL3 Protein Structure
Glyco_transf_29: Glycosyltransferase family 29 (sialyltransferase) (106 - 372)
- 0
- 100
- 200
- 300
- 375 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase |
|
ST3GAL3 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ST3GAL3 | Q11203 | DPP9 | Homo sapiens | Q86TI2-2 | 32814053 | |
|
Intra
|
ST3GAL3 | Q11203 | DPP9 | Homo sapiens | Q86TI2-2 | 32814053 | |
|
Intra
|
ST3GAL3 | Q11203 | DPP9 | Homo sapiens | Q86TI2-2 | 32814053 | |
|
Intra
|
ST3GAL3 | Q11203 | MAGEB6 | Homo sapiens | Q8N7X4 | 32814053 | |
|
Intra
|
ST3GAL3 | Q11203 | MAGEB6 | Homo sapiens | Q8N7X4 | 32814053 | |
|
Intra
|
ST3GAL3 | Q11203 | MAGEB6 | Homo sapiens | Q8N7X4 | 32814053 |
Recombinant ST3GAL3 Proteins
| Cat. No. | 상품명 | Accession | Purity |
|---|---|---|---|
| HY-P71529 | ST3GAL3 Protein, Human (His-SUMO) | Q11203 (K29-I375) | ≥ 90%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Developmental And Epileptic Encephalopathy 15 |
|
|
| Intellectual Developmental Disorder, Autosomal Recessive 12 |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
| Ohtahara Syndrome |
|
|
| West Syndrome |
|
|
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
|
| Lennox-Gastaut Syndrome |
|
|
| Salt And Pepper Syndrome |
|
|
| Developmental And Epileptic Encephalopathy 8 |
|
|
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
|
| Epilepsy |
|
|
| Infancy Electroclinical Syndrome |
|
|
| Developmental And Epileptic Encephalopathy 2 |
|
|
| Autosomal Recessive Intellectual Developmental Disorder |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | ST3GAL3 | VGNC | VGNC:108234 |
| Mus musculus | ST3GAL3 | MGD | MGI:1316659 |
| Felis catus | ST3GAL3 | VGNC | VGNC:65721 |
| Macaca mulatta | ST3GAL3 | VGNC | VGNC:77828 |
| Rattus norvegicus | ST3GAL3 | RGD | RGD:68414 |
| Bos taurus | ST3GAL3 | VGNC | VGNC:54493 |
| Others | ST3GAL3 | NCBI |