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Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]
ST8SIA1 (ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 1) is a Protein Coding gene. Diseases associated with ST8SIA1 include Miller Fisher Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Glycosphingolipid biosynthesis - ganglio series. Gene Ontology (GO) annotations related to this gene include sialyltransferase activity and alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity. An important paralog of this gene is ST8SIA6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
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GO:0003828 | alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity | IEA,IBA | 21873635 |
GO:0008373 | sialyltransferase activity | IEA,TAS | 8195250 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | TAS | 8195250 |
GO:0006486 | protein glycosylation | IEA | -- |
GO:0006491 | N-glycan processing | IBA | 21873635 |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006665 | sphingolipid metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Cytidine monophosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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Cytidine monophosphate N-acetylneuraminic acid |
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22-12-8 |
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Ganglioside GD3 (d18:1/12:0) |
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Ganglioside GD3 (d18:1/16:0) |
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Ganglioside GD3 (d18:1/18:0) |
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Ganglioside GD3 (d18:1/20:0) |
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ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d |
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SP1: | - | - | - | ||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||
SP3: | |||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ST8SIA1 30 31 |
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OneToOne | |
Dog (Canis familiaris) |
Mammalia | ST8SIA1 30 31 |
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OneToOne | |
Cow (Bos Taurus) |
Mammalia | ST8SIA1 30 31 |
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OneToOne | |
Mouse (Mus musculus) |
Mammalia | St8sia1 30 17 31 |
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OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | St8sia1 30 |
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Oppossum (Monodelphis domestica) |
Mammalia | ST8SIA1 31 |
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OneToOne | |
Chicken (Gallus gallus) |
Aves | ST8SIA1 30 31 |
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OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ST8SIA1 31 |
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OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | LOC398735 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | LOC100333872 30 |
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st8sia1 31 31 |
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OneToMany |
Variant ID | Type | Subtype | PubMed ID |
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dgv467e212 | CNV | loss | 25503493 |
esv23565 | CNV | loss | 19812545 |
esv2759883 | CNV | gain+loss | 17122850 |
esv3304736 | CNV | mobile element insertion | 20981092 |
esv33913 | CNV | gain | 17666407 |
esv3435731 | CNV | insertion | 20981092 |
esv3580188 | CNV | loss | 25503493 |
nsv1070516 | CNV | deletion | 25765185 |
nsv1119938 | CNV | deletion | 24896259 |
nsv1119939 | CNV | deletion | 24896259 |
nsv1130908 | CNV | deletion | 24896259 |
nsv1146956 | CNV | deletion | 26484159 |
nsv435637 | CNV | deletion | 17901297 |
nsv476720 | CNV | novel sequence insertion | 20440878 |
nsv482978 | CNV | loss | 15286789 |
nsv521274 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
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miller fisher syndrome |
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