ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1
Gene ID: 6482, updated on 17-Jun-2024Gene type: protein coding
Also known as: ST3O; SIAT4A; SIATFL; ST3GalA; ST3GalIA; Gal-NAc6S; ST3GalA.1; ST3GalIA,1
- See all available tests in GTR for this gene
- Go to complete Gene record for ST3GAL1
- Go to Variation Viewer for ST3GAL1 variants
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 but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia. GeneReviews: Not available | |
| Genome-wide association study and meta-analysis of intraocular pressure. GeneReviews: Not available | |
| Genome-wide association study of the five-factor model of personality in young Korean women. GeneReviews: Not available | |
| Genome-wide association study to characterize serum bilirubin elevations in patients with HCV treated with GS-9256, an HCV NS3 serine protease inhibitor. GeneReviews: Not available |
Genomic context
- Location:
- 8q24.22
- Sequence:
- Chromosome: 8; NC_000008.11 (133454848..133571887, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ST3GAL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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