WBSCR17

From Wikipedia, the free encyclopedia

Williams-Beuren syndrome chromosome region 17

Identifiers

WBSCR17; GALNT16; DKFZp434I2216; DKFZp761D2324; GALNT20; GALNTL3

External IDs

Gene ontology
Molecular Function:	• polypeptide N-acetylgalactosaminyltransferase activity • calcium ion binding • sugar binding • transferase activity, transferring glycosyl groups • manganese ion binding
Cellular Component:	• membrane • integral to membrane

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_022479 (mRNA)
NP_071924 (protein)

XM_974931 (mRNA)
XP_980025 (protein)

Location

Chr 7: 70.24 - 70.82 Mb

n/a

Pubmed search

[1]

[2]

Williams-Beuren syndrome chromosome region 17, also known as WBSCR17, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: WBSCR17 Williams-Beuren syndrome chromosome region 17.

[edit] Further reading

Nakamura N, Toba S, Hirai M, et al. (2005). "Cloning and expression of a brain-specific putative UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene.". Biol. Pharm. Bull. 28 (3): 429-33. PMID 15744064.
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. 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. doi:10.1126/science.1083423. 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. doi:10.1073/pnas.242603899. PMID 12477932.
Merla G, Ucla C, Guipponi M, Reymond A (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.
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.". Nature 377 (6547 Suppl): 3-174. PMID 7566098.