GALNT17 (polypeptide N-acetylgalactosaminyltransferase 17)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 64409 |
| Gene name | Polypeptide N-acetylgalactosaminyltransferase 17 |
| Gene symbol | GALNT17 |
| Synonyms (NCBI Gene) |
GALNACT17GALNT16GALNT20GALNTL3GalNAc-T17GalNAc-T19GalNAc-T5LWBSCR17
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| Chromosome | 7 |
| Chromosome location | 7q11.22 |
| Summary | This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This prote |
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miRNA
miRNA information provided by mirtarbase database.
152
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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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Q6IS24 | |||||||||||||||
| Protein name | Polypeptide N-acetylgalactosaminyltransferase 17 (EC 2.4.1.41) (Polypeptide GalNAc transferase-like protein 3) (GalNAc-T-like protein 3) (pp-GaNTase-like protein 3) (Protein-UDP acetylgalactosaminyltransferase-like protein 3) (UDP-GalNAc:polypeptide N-ace | |||||||||||||||
| Protein function | May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen. {ECO:0000269|PubMed:12073013}. | |||||||||||||||
| Sequence |
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| Sequence length | 598 | |||||||||||||||
| 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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