Jump to content

WBSCR17

From Wikipedia, the free encyclopedia
GALNT17
Identifiers
AliasesGALNT17, GALNACT17, GALNT16, GALNT20, GALNTL3, GalNAc-T5L, WBSCR17, Williams-Beuren syndrome chromosome region 17, polypeptide N-acetylgalactosaminyltransferase 17, GalNAc-T17, GalNAc-T19
External IDsOMIM: 615137; MGI: 2137594; HomoloGene: 49707; GeneCards: GALNT17; OMA:GALNT17 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_022479

NM_145218

RefSeq (protein)

NP_071924

NP_660253

Location (UCSC)Chr 7: 71.13 – 71.71 MbChr 5: 130.9 – 131.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000185274Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034040Ensembl, 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. ^ a b "Entrez Gene: WBSCR17 Williams-Beuren syndrome chromosome region 17".

Further reading

[edit]