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This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
ST3GAL4 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 4) is a Protein Coding gene. Diseases associated with ST3GAL4 include Developmental And Epileptic Encephalopathy 15 and Inflammatory Breast Carcinoma. Among its related pathways are O-linked glycosylation and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include sialyltransferase activity and monosialoganglioside sialyltransferase activity. An important paralog of this gene is ST3GAL6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003836 | beta-galactoside (CMP) alpha-2,3-sialyltransferase activity | IDA,TAS | -- |
GO:0004513 | neolactotetraosylceramide alpha-2,3-sialyltransferase activity | IDA | 8611500 |
GO:0008118 | N-acetyllactosaminide alpha-2,3-sialyltransferase activity | IMP | 25498912 |
GO:0008373 | sialyltransferase activity | IEA,IBA | 21873635 |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005576 | extracellular region | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Synthesis of substrates in N-glycan biosythesis | ||
2 | Metabolism |
.40
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3 | Transport to the Golgi and subsequent modification | ||
4 | Glycosaminoglycan metabolism | ||
5 | Keratan sulfate/keratin metabolism |
Symbol | External ID(s) | Details |
---|---|---|
B3GALT5 | ||
BPNT2 | ||
C1GALT1C1 | ||
CD8B | ||
CSGALNACT2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IEA,IDA | 8288606 |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0009101 | glycoprotein biosynthetic process | IDA | 8288606 |
GO:0009247 | glycolipid biosynthetic process | IBA,IDA | 8288606 |
GO:0009312 | oligosaccharide biosynthetic process | IDA | 8288606 |
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 5'-monophosphate-N-acetylneuraminic acid |
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3063-71-6 |
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Ganglioside GM1 (18:1/12:0) |
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Ganglioside GM1 (18:1/16:0) |
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Ganglioside GM1 (18:1/18:0) |
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Ganglioside GM1 (18:1/20:0) |
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ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11 | ^ | 12a | · | 12b | · | 12c | · | 12d | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP11: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP16: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP18: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP19: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP20: |
ExUns: | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20a | · | 20b | · | 20c | ^ | 21a | · | 21b | ^ | 22a | · | 22b | · | 22c | ^ | 23 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||
SP10: | - | ||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | |||||||||||||||||||||
SP12: | - | ||||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||||
SP14: | - | - | |||||||||||||||||||||||||
SP15: | |||||||||||||||||||||||||||
SP16: | |||||||||||||||||||||||||||
SP17: | - | - | |||||||||||||||||||||||||
SP18: | |||||||||||||||||||||||||||
SP19: | |||||||||||||||||||||||||||
SP20: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ST3GAL4 30 31 |
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OneToOne | |
Dog (Canis familiaris) |
Mammalia | ST3GAL4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ST3GAL4 30 |
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ST3GAL-IV 31 |
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OneToOne | |||
Mouse (Mus musculus) |
Mammalia | St3gal4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | St3gal4 30 |
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Oppossum (Monodelphis domestica) |
Mammalia | ST3GAL4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | ST3GAL4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ST3GAL4 31 |
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OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | st3gal4 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.15272 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | st3gal4 30 31 |
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OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2230278 | Benign: not specified | 126,407,321(+) |
C/T NM_001254757.2(ST3GAL4):c.252C>T (p.Tyr84=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs2230279 | Benign: not specified | 126,408,180(+) |
C/T NM_001254757.2(ST3GAL4):c.423C>T (p.Tyr141=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs2298475 | Benign: not specified | 126,408,308(+) |
T/C NM_001254757.2(ST3GAL4):c.439T>C (p.Leu147=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv235e214 | CNV | gain | 21293372 |
esv24669 | CNV | gain | 19812545 |
esv2672750 | CNV | deletion | 23128226 |
esv2745215 | CNV | deletion | 23290073 |
esv2762951 | CNV | gain | 21179565 |
esv3579953 | CNV | loss | 25503493 |
esv3628004 | CNV | loss | 21293372 |
esv3628007 | CNV | loss | 21293372 |
esv3892106 | CNV | loss | 25118596 |
nsv527257 | CNV | gain | 19592680 |
nsv556530 | CNV | loss | 21841781 |
nsv556531 | CNV | loss | 21841781 |
nsv826123 | CNV | gain | 20364138 |
nsv952757 | CNV | deletion | 24416366 |
nsv975994 | CNV | duplication | 23825009 |
nsv975995 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
developmental and epileptic encephalopathy 15 |
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inflammatory breast carcinoma |
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hyperglycemia |
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diabetes mellitus |
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