ST8SIA5 (ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 29906 |
| Gene name | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 |
| Gene symbol | ST8SIA5 |
| Synonyms (NCBI Gene) |
SIAT8-ESIAT8EST8SiaV
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| Chromosome | 18 |
| Chromosome location | 18q21.1 |
| Summary | The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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O15466 | ||||||||||
| Protein name | Alpha-2,8-sialyltransferase 8E (EC 2.4.99.-) (Sialyltransferase 8E) (SIAT8-E) (Sialyltransferase St8Sia V) (ST8SiaV) | ||||||||||
| Protein function | Involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, GP1c and GT3 from GD1a, GT1b, GM1b and GD3 respectively. | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: [Isoform 1]: Expressed in fetal and adult brain, adult heart and skeletal muscle. {ECO:0000269|PubMed:9199191}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed in fetal and adult brain, not detected in adult heart and skeletal muscle. {ECO | ||||||||||
| Sequence |
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| Sequence length | 376 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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