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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. Diseases associated with ST6GALNAC1 include Hypermethioninemia Due To Adenosine Kinase Deficiency. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. 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 5'-monophosphate-N-acetylneuraminic acid |
|
3063-71-6 |
|
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 |
---|---|---|---|---|---|
rs146032525 | Benign: not provided | 76,629,224(-) |
T/G NM_018414.5(ST6GALNAC1):c.619A>C (p.Thr207Pro) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs146469768 | Likely Benign: not provided | 76,629,223(-) |
G/A NM_018414.5(ST6GALNAC1):c.620C>T (p.Thr207Ile) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypermethioninemia due to adenosine kinase deficiency |
|
|