GALNT9 - polypeptide N-acetylgalactosaminyltransferase 9 Gene
Also Known as GALNACT9; GALNAC-T9
Species: Homo sapiens
About GALNT9
This gene has 10 transcripts (splice variants), 1 gene allele, 253 orthologues and 19 paralogues. Biased expression in brain (RPKM 5.0), thyroid (RPKM 1.4) and 1 other tissue.
Summary
This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of Enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GALNT9 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001122636.2 | NP_001116108.1 | polypeptide N-acetylgalactosaminyltransferase 9 isoform A |
| NM_021808.3 | NP_068580.2 | polypeptide N-acetylgalactosaminyltransferase 9 isoform B |
GALNT9 Protein Structure
Ricin_B_lectin: Ricin-type beta-trefoil lectin domain (99 - 226)
- 0
- 100
- 200
- 237 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
polypeptide N-acetylgalactosaminyltransferase 9 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Williams-Beuren Syndrome |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | GALNT9 | VGNC | VGNC:41097 |
| Rattus norvegicus | GALNT9 | RGD | RGD:1311523 |
| Macaca mulatta | GALNT9 | VGNC | VGNC:84885 |
| Felis catus | GALNT9 | VGNC | VGNC:62454 |
| Bos taurus | GALNT9 | VGNC | VGNC:29236 |
| Mus musculus | GALNT9 | MGD | MGI:2677965 |
| Others | GALNT9 | NCBI |