GALNT3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) [Homo sapiens (human)]
| Gene Symbol | GALNT3 |
| Entrez Gene ID | 2591 |
| Full Name | UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) |
| Synonyms | DKFZp686C10199, GalNAc-T3, HFTC, HHS, MGC61909 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
2 2q24-q31 |
| Summary | This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases 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. [provided by RefSeq]. |
| Disorder | MIM: 601756 Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3) |
| mRNA | NM_004482, 153266877 |
| Protein | NP_004473, 153266878 |
| Product | polypeptide N-acetylgalactosaminyltransferase 3 |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | GALNT3 | NP_004473.2 |
| Pan troglodytes (chimpanzee) | GALNT3 | XP_515871.2 |
| Canis lupus familiaris (dog) | GALNT3 | XP_535940.2 |
| Bos taurus (cattle) | GALNT3 | XP_615555.2 |
| Mus musculus (house mouse) | Galnt3 | NP_056551.1 |
| Rattus norvegicus (Norway rat) | Galnt3 | NP_001015032.2 |
| Gallus gallus (chicken) | GALNT3 | XP_422023.2 |
| ID | Name | Evidence |
| GO:0005975 | carbohydrate metabolic process | NAS |
| GO:0018242 | protein O-linked glycosylation via serine | IDA |
| GO:0018243 | protein O-linked glycosylation via threonine | IDA |
Component
| ID | Name | Evidence |
| GO:0005624 | membrane fraction | TAS |
| GO:0005634 | nucleus | IDA |
| GO:0005737 | cytoplasm | IDA |
| GO:0005794 | Golgi apparatus | IDA |
| GO:0005794 | Golgi apparatus | IDA |
| GO:0016020 | membrane | IEA |
| GO:0016021 | integral to membrane | IEA |
| GO:0032580 | Golgi cisterna membrane | IEA |
| GO:0048471 | perinuclear region of cytoplasm | IDA |
Function
| ID | Name | Evidence |
| GO:0004653 | polypeptide N-acetylgalactosaminyltransferase activity | IDA |
| GO:0005509 | calcium ion binding | IDA |
| GO:0005529 | sugar binding | IEA |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA |
| GO:0030145 | manganese ion binding | IDA |
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