WBSCR17

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
View/Edit Human View/Edit Mouse

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

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]

References

1. GRCh38: Ensembl release 89: ENSG00000185274 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034040 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Merla G, Ucla C, Guipponi M, Reymond A (Jun 2002). "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Hum Genet. 110 (5): 429–38. doi:10.1007/s00439-002-0710-x. PMID   12073013. S2CID   29964959.
6. Nakamura N, Toba S, Hirai M, Morishita S, Mikami T, Konishi M, Itoh N, Kurosaka A (Mar 2005). "Cloning and expression of a brain-specific putative UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene". Biological and Pharmaceutical Bulletin . 28 (3): 429–33. doi: 10.1248/bpb.28.429 . PMID   15744064.
7. "Entrez Gene: WBSCR17 Williams-Beuren syndrome chromosome region 17".

Further reading

• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC   2882961 . PMID   12690205.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Valero MC, de Luis O, Cruces J, Pérez Jurado LA (2001). "Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s)". Genomics. 69 (1): 1–13. doi:10.1006/geno.2000.6312. PMID   11013070.
• Adams MD, Kerlavage AR, Fleischmann RD, et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF). Nature. 377 (6547 Suppl): 3–174. PMID   7566098.