GALNT17 (polypeptide N-acetylgalactosaminyltransferase 17)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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64409 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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Polypeptide N-acetylgalactosaminyltransferase 17 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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GALNT17 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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GALNACT17, GALNT16, GALNT20, GALNTL3, GalNAc-T17, GalNAc-T19, GalNAc-T5L, WBSCR17 |
Chromosome
Chromosome number
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7 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7q11.22 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein | ||||||||||||||||
UniProt ID | 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 |
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease information provided by ClinVar, GenCC, and GWAS databases.
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