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Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]
ST6GALNAC1 (ST6 N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase 1) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Mucin type O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include sialyltransferase activity and alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity. An important paralog of this gene is ST6GALNAC2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001665 | alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity | IEA,IBA | 21873635 |
GO:0008373 | sialyltransferase activity | IEA,NAS | 10536037 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Synthesis of substrates in N-glycan biosythesis | ||
2 | Metabolism of proteins | ||
3 | Metabolism | ||
4 | Mucin type O-glycan biosynthesis | ||
5 | Transport to the Golgi and subsequent modification |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IEA,NAS | 10536037 |
GO:0009312 | oligosaccharide biosynthetic process | IEA | -- |
GO:0097503 | sialylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Cytidine monophosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Cytidine monophosphate N-acetylneuraminic acid |
|
22-12-8 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP7: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ST6GALNAC1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ST6GALNAC1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | St6galnac1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | St6galnac1 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ST6GALNAC1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ST6GALNAC1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ST6GALNAC1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ST6GALNAC1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | st6galnac1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | st6galnac1.1 30 31 |
|
OneToMany | |
st6galnac1.2 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4378 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708610 | Likely Benign: not provided | 76,629,223(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
789098 | Benign: not provided | 76,629,224(-) | T/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs35948039 | - | p.Ile424Val | |||
rs8077382 | - | p.Val80Ala |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv588e214 | CNV | loss | 21293372 |
esv2671702 | CNV | deletion | 23128226 |
esv2716257 | CNV | deletion | 23290073 |
esv3305624 | CNV | mobile element insertion | 20981092 |
esv3331560 | CNV | insertion | 20981092 |
esv3641295 | CNV | gain | 21293372 |
nsv1058486 | CNV | gain | 25217958 |
nsv1060182 | CNV | gain | 25217958 |
nsv518385 | CNV | gain | 19592680 |
nsv820158 | CNV | gain | 19587683 |
No disorders were found for ST6GALNAC1 Gene.