GALNT3

GALNT3
Identifiers
Aliases	GALNT3, GalNAc-T3, HFTC, HHS, polypeptide N-acetylgalactosaminyltransferase 3, HFTC1
External IDs	OMIM: 601756; MGI: 894695; HomoloGene: 55827; GeneCards: GALNT3; OMA:GALNT3 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	165,794,659 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	65,955,338 bp
RNA expression pattern
	Top expressed in
	mucosa of sigmoid colon; ; bronchial epithelial cell; ; parotid gland; ; jejunal mucosa; ; rectum; ; palpebral conjunctiva; ; gingival epithelium; ; pylorus; ; right uterine tube; ; duodenum;
	Top expressed in
	parotid gland; ; lacrimal gland; ; submandibular gland; ; spermatocyte; ; spermatid; ; right kidney; ; seminiferous tubule; ; conjunctival fornix; ; epithelium of stomach; ; mucous cell of stomach;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	transferase activity; calcium ion binding; manganese ion binding; glycosyltransferase activity; metal ion binding; polypeptide N-acetylgalactosaminyltransferase activity; protein binding; carbohydrate binding;
Cellular component	integral component of membrane; Golgi apparatus; membrane; Golgi membrane; Golgi cisterna membrane; perinuclear region of cytoplasm; extracellular exosome;
Biological process	protein O-linked glycosylation via serine; protein glycosylation; protein O-linked glycosylation via threonine; O-glycan processing; fibroblast growth factor receptor signaling pathway; carbohydrate metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	2591
	14425
	ENSG00000115339
	ENSMUSG00000026994
	Q14435
	P70419
	NM_004482
	NM_015736
	NP_004473
	NP_056551
	Wikidata
View/Edit Human	View/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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000115339 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026994 – 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.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: GALNT3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000115339 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026994 – 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.

[pmid9592121-5] 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.

[pmid15133511-6] 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.

[entrez-7] "Entrez Gene: GALNT3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)".

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