| Gene Symbol | POMT1 |
|---|---|
| Entrez Gene | 10585 |
| Alt Symbol | LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT |
| Species | Human |
| Gene Type | protein-coding |
| Description | protein-O-mannosyltransferase 1 |
| Other Description | dolichyl-phosphate-mannose--protein mannosyltransferase 1|protein O-mannosyl-transferase 1 |
| Swissprots | Q5JT01 B4DIF0 Q5JT08 Q9NX32 Q8NC91 Q9NX82 Q8TCA9 Q9UNT2 B3KQG0 Q5JT06 Q9Y6A1 |
| Accessions | AAD41246 CAF86827 EAW87974 EAW87975 EAW87976 EAW87977 EAW87978 Q9Y6A1 AB209430 BAD92667 AF095136 AAD41245 AK000475 BAA91190 AK074874 BAG52022 AK074888 BAC11269 AK094558 AK293529 BAG57011 AK295458 BAG58392 AK295561 BAG58462 AK299646 BAG61567 AK300393 BAG62126 AK300511 BAG62223 AK301486 BAG63000 AK303254 BAG64337 AK307876 AK315218 BC022877 AAH22877 BC065268 AAH65268 BF984005 DB154785 XM_005272156 XP_005272213 XM_005272158 XP_005272215 XM_005272159 XP_005272216 XM_005272162 XP_005272219 XM_006716932 XP_006716995 XM_011518140 XP_011516442 XM_011518141 XP_011516443 XM_011518142 XP_011516444 XM_011518143 XP_011516445 XM_011518144 XP_011516446 XM_011518145 XP_011516447 XM_011518146 XP_011516448 XM_011518147 XP_011516449 XR_929703 NM_001077365 NP_001070833 NM_001077366 NP_001070834 NM_001136113 NP_001129585 NM_001136114 NP_001129586 NM_007171 NP_009102 |
| Function | Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. {ECO:0000269|PubMed:12369018, ECO:0000269|PubMed:14699049}. |
| Subcellular Location | Endoplasmic reticulum membrane {ECO:0000269|PubMed:14699049}; Multi-pass membrane protein {ECO:0000269|PubMed:14699049}. |
| Tissue Specificity | Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver. |
| Top Pathways | Other types of O-glycan biosynthesis |