GALNT17

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; GeneCards: GALNT17
Enzyme activity
Gene location (Human)
Chr.	Chromosome 7 (human)
End	71,713,600 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	131,337,335 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	64409
	212996
	ENSG00000185274
	ENSMUSG00000034040
	Q6IS24
	Q7TT15
	NM_022479
	NM_145218
	NP_071924
	NP_660253
	Wikidata
View/Edit Human	View/Edit Mouse

Polypeptide N-acetylgalactosaminyltransferase 17 is an enzyme that in humans is encoded by the WBSCR17 gene.

This gene encodes a 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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000185274 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034040 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
1 2 "Entrez Gene: WBSCR17 Williams-Beuren syndrome chromosome region 17".

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.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000185274 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid12073013-5] 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.

[pmid15744064-6] 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.

[entrez-7] 1 2 "Entrez Gene: WBSCR17 Williams-Beuren syndrome chromosome region 17".

GALNT17

References

Further reading