| Gene Symbol | POMGNT1 |
|---|---|
| Entrez Gene | 55624 |
| Alt Symbol | GNTI.2, GnT I.2, LGMD2O, MEB, MGAT1.2, gnT-I.2 |
| Species | Human |
| Gene Type | protein-coding |
| Description | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| Other Description | UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2|protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 |
| Swissprots | Q5VST3 Q8WZA1 Q9NYF7 Q9H9L8 Q9BV55 D3DQ16 Q9NXF9 Q5VST2 |
| Accessions | EAX06932 EAX06933 EAX06934 EAX06935 EAX06936 Q8WZA1 AA918249 AB057356 BAB71960 AF250859 AAF71270 AK000284 BAA91053 AK022727 BAB14207 AK026430 AK055301 AK056186 AK225033 AK301923 BAH13588 AK302379 BAH13690 AK316399 BAH14770 AW818474 AY358592 AAQ88955 BC001471 AAH01471 BM999774 BQ448444 CB146374 CR749700 CAH18478 DA187331 XM_005271010 XP_005271067 XM_006710755 XP_006710818 XM_006710756 XP_006710819 XM_011541759 XP_011540061 XM_011541760 XP_011540062 XM_011541761 XP_011540063 XR_946706 NM_001243766 NP_001230695 NM_001290129 NP_001277058 NM_001290130 NP_001277059 NM_017739 NP_060209 |
| Function | Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O- Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity. {ECO:0000269|PubMed:11709191}. |
| Subcellular Location | Golgi apparatus membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}. |
| Tissue Specificity | Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons. {ECO:0000269|PubMed:11709191, ECO:0000269|PubMed:11742540}. |
| Top Pathways | Other types of O-glycan biosynthesis |