WBSCR17

Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 is an enzyme that in humans is encoded by the WBSCR17 gene.^[5][6][7]

GALNT17
Identifiers
Aliases	GALNT17, GALNACT17, GALNT16, GALNT20, GALNTL3, GalNAc-T5L, WBSCR17, Williams-Beuren syndrome chromosome region 17, polypeptide N-acetylgalactosaminyltransferase 17, GalNAc-T17, GalNAc-T19
External IDs	OMIM: 615137; MGI: 2137594; HomoloGene: 49707; GeneCards: GALNT17; OMA:GALNT17 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q11.22 Start 71,132,144 bp[1] End 71,713,600 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G2 Start 130,900,923 bp[2] End 131,337,335 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in trigeminal ganglion spinal ganglia cerebellar vermis prefrontal cortex right hemisphere of cerebellum right frontal lobe Brodmann area 9 apex of heart cingulate gyrus anterior cingulate cortex Top expressed in trigeminal ganglion hippocampus proper dentate gyrus of hippocampal formation granule cell spinal ganglia visual cortex primary visual cortex cerebellar cortex ganglionic eminence basal forebrain striatum of neuraxis More reference expression data BioGPS n/a
Gene ontology Molecular function metal ion binding glycosyltransferase activity carbohydrate binding polypeptide N-acetylgalactosaminyltransferase activity transferase activity Cellular component Golgi apparatus Golgi membrane membrane integral component of membrane Biological process protein glycosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64409 212996 Ensembl ENSG00000185274 ENSMUSG00000034040 UniProt Q6IS24 Q7TT15 RefSeq (mRNA) NM_022479 NM_145218 RefSeq (protein) NP_071924 NP_660253 Location (UCSC) Chr 7: 71.13 – 71.71 Mb Chr 5: 130.9 – 131.34 Mb PubMed search [3] [4]
Wikidata
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This gene encodes an N-acetylgalactosaminyltransferase, which has 97% sequence identity to the mouse protein. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.^[7]