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GALNT3

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GALNT3
Identifiers
AliasesGALNT3, GalNAc-T3, HFTC, HHS, polypeptide N-acetylgalactosaminyltransferase 3, HFTC1
External IDsOMIM: 601756; MGI: 894695; HomoloGene: 55827; GeneCards: GALNT3; OMA:GALNT3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004482

NM_015736

RefSeq (protein)

NP_004473

NP_056551

Location (UCSC)Chr 2: 165.75 – 165.79 MbChr 2: 65.91 – 65.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Polypeptide N-acetylgalactosaminyltransferase 3 is an enzyme that in humans is encoded by the GALNT3 gene.[5][6][7]

This gene encodes UDP-GalNAc transferase 3, a member of the polypeptide GalNAc transferase (GalNAc-T) family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members; however, the enzymes have different substrate specificities.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000115339Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026994Ensembl, 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. ^ Bennett EP, Weghuis DO, Merkx G, van Kessel AG, Eiberg H, Clausen H (Jul 1998). "Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine: polypeptide N-acetylgalactosaminyltransferase family". Glycobiology. 8 (6): 547–55. doi:10.1093/glycob/8.6.547. PMID 9592121.
  6. ^ Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E (May 2004). "Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis". Nat Genet. 36 (6): 579–81. doi:10.1038/ng1358. PMID 15133511.
  7. ^ a b "Entrez Gene: GALNT3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)".

Further reading

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