Gene Gene information from NCBI Gene database.
Entrez ID 6489
Gene name ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1
Gene symbol ST8SIA1
Synonyms (NCBI Gene)
GD3SSIAT8SIAT8-ASIAT8AST8SiaI
Chromosome 12
Chromosome location 12p12.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
575
miRTarBase ID miRNA Experiments Reference
MIRT1393850 hsa-miR-1226 CLIP-seq
MIRT1393851 hsa-miR-1252 CLIP-seq
MIRT1393852 hsa-miR-125a-3p CLIP-seq
MIRT1393853 hsa-miR-1263 CLIP-seq
MIRT1393854 hsa-miR-1285 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0003828 Function Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity IBA
GO:0003828 Function Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity IDA 8706663, 18348864, 22885356
GO:0003828 Function Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601123 10869 ENSG00000111728
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92185
Protein name Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase (EC 2.4.3.8) (Alpha-2,8-sialyltransferase 8A) (Ganglioside GD3 synthase) (Ganglioside GT3 synthase) (Sialyltransferase 8A) (SIAT8-A) (Sialyltransferase St8Sia I) (ST8SiaI)
Protein function Catalyzes the addition of sialic acid in alpha 2,8-linkage to the sialic acid moiety of the ganglioside GM3 to form ganglioside GD3; gangliosides are a subfamily of complex glycosphingolipds that contain one or more residues of sialic acid (PubM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00777 Glyco_transf_29 91 344 Glycosyltransferase family 29 (sialyltransferase) Family
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in melanoma cell lines, adult and fetal brain and to a lesser extent in adult and fetal lung. {ECO:0000269|PubMed:7937974, ECO:0000269|PubMed:8631981}.
Sequence
Sequence length 356
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosphingolipid biosynthesis - lacto and neolacto series
Glycosphingolipid biosynthesis - globo and isoglobo series
Glycosphingolipid biosynthesis - ganglio series
Metabolic pathways
  Sialic acid metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 19125296, 22885356, 23626833, 28367091, 29698439, 33260650
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 30237308
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 24485021
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Associate 31527170
★☆☆☆☆
Found in Text Mining only
Glioblastoma Stimulate 22885356
★☆☆☆☆
Found in Text Mining only
Graves Disease Inhibit 29047240
★☆☆☆☆
Found in Text Mining only
Graves Ophthalmopathy Associate 29047240
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Associate 23479608
★☆☆☆☆
Found in Text Mining only
Melanoma Stimulate 22885356
★☆☆☆☆
Found in Text Mining only
Melanoma Associate 31611597
★☆☆☆☆
Found in Text Mining only