ST6GALNAC1 (ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 55808 |
| Gene name | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 |
| Gene symbol | ST6GALNAC1 |
| Synonyms (NCBI Gene) |
HSY11339SIAT7AST6GalNAcISTYI
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| Chromosome | 17 |
| Chromosome location | 17q25.1 |
| Summary | 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. |
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miRNA
miRNA information provided by mirtarbase database.
36
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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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Q9NSC7 | ||||||||||
| Protein name | Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (EC 2.4.3.3) (GalNAc alpha-2,6-sialyltransferase I) (ST6GalNAc I) (ST6GalNAc-I) (ST6GalNAcI) (hST6GalNAc-I) (Sialyltransferase 7A) (SIAT7-A) | ||||||||||
| Protein function | Protein sialyltransferase specifically expressed in goblet cells that plays a key role in intestinal host-commensal homeostasis (PubMed:35303419). Conjugates sialic acid with an alpha-2-6 linkage to N-acetylgalactosamine (GalNAc) glycan chains l | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expression is restricted to the gastrointestinal tract (PubMed:16319059). Highly expressed in goblet cells (PubMed:35303419). Also expressed in various tumor cells (PubMed:16319059). {ECO:0000269|PubMed:16319059, ECO:0000269|PubMed:353 | ||||||||||
| Sequence |
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| Sequence length | 600 | ||||||||||
| 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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