GALNT1
polypeptide N-acetylgalactosaminyltransferase 1
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. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs113354302 | 18:33,173,275 | T/C | — | — |
| rs79641095 | 18:33,199,585 | C/G | regulatory region variant | — |
| rs17647532 | 18:33,234,072 | T/C | upstream gene variant | — |
| rs1385293058 | 18:33,243,601 | C/T | — | uncertain significance |
| rs367800500 | 18:33,243,608 | A/C | — | uncertain significance |
| rs2511094055 | 18:33,263,370 | C/T | — | uncertain significance |
| rs751884824 | 18:33,267,101 | C/G | — | uncertain significance |
| rs756025596 | 18:33,271,055 | C/T | — | uncertain significance |
| rs774392647 | 18:33,271,133 | A/G | — | uncertain significance |
| rs763511120 | 18:33,272,184 | T/C | — | uncertain significance |
| rs77648082 | 18:33,283,514 | C/T | — | benign |
| rs765397647 | 18:33,289,627 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.