Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) (POMGNT1) Associated conditions: 1. Muscle eye brain disease 2. Retinitis pigmentosa
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001243766.2 | NP_001230695.2 | NC_000001.11 | (46188682..46220304, complement) | Reference GRCh38.p14 Primary Assembly | Q8WZA1 |
| 2 | REVIEWED | NM_001290129.3 | NP_001277058.2 | NC_000001.11 | (46188682..46220304, complement) | Reference GRCh38.p14 Primary Assembly | Q8WZA1 |
| 3 | REVIEWED | NM_001290130.2 | NP_001277059.2 | NC_000001.11 | (46188682..46220304, complement) | Reference GRCh38.p14 Primary Assembly | Q8WZA1 |
| 4 | REVIEWED | NM_001410783.1 | NP_001397712.1 | NC_000001.11 | (46188682..46220304, complement) | Reference GRCh38.p14 Primary Assembly | Q8WZA1 |
| 5 | REVIEWED | NM_001437653.1 | NP_001424582.1 | NC_000001.11 | (46188682..46220304, complement) | Reference GRCh38.p14 Primary Assembly | Q8WZA1 |
| 6 | REVIEWED | NM_001438686.1 | NP_001425615.1 | NC_000001.11 | (46188682..46220304, complement) | Reference GRCh38.p14 Primary Assembly | Q8WZA1 |
| 7 | REVIEWED | NM_001438688.1 | NP_001425617.1 | NC_000001.11 | (46188682..46220304, complement) | Reference GRCh38.p14 Primary Assembly | Q8WZA1 |
| 8 | REVIEWED | NM_001438689.1 | NP_001425618.1 | NC_000001.11 | (46188682..46220304, complement) | Reference GRCh38.p14 Primary Assembly | Q8WZA1 |
| 9 | REVIEWED | NM_001438691.1 | NP_001425620.1 | NC_000001.11 | (46188682..46220304, complement) | Reference GRCh38.p14 Primary Assembly | Q8WZA1 |
| 10 | REVIEWED | NM_001438692.1 | NP_001425621.1 | NC_000001.11 | (46188682..46220304, complement) | Reference GRCh38.p14 Primary Assembly | Q8WZA1 |
| 11 | REVIEWED | NM_017739.4 | NP_060209.4 | NC_000001.11 | (46188682..46220304, complement) | Reference GRCh38.p14 Primary Assembly | Q8WZA1 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) (POMGNT1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IBA | is_active_in | Golgi membrane | Component | - |
| 2 | Homo sapiens | IDA | located_in | Golgi membrane | Component | 17034757 |
| 3 | Homo sapiens | IEA | located_in | Golgi membrane | Component | - |
| 4 | Homo sapiens | TAS | located_in | Golgi membrane | Component | - |
| 5 | Homo sapiens | IPI | enables | protein binding | Function | 17034757 25416956 28514442 29892012 32296183 32707033 33961781 |
| 6 | Homo sapiens | IDA | acts_upstream_of_or_within | protein O-linked glycosylation | Process | 11709191 |
| 7 | Homo sapiens | IEA | involved_in | protein O-linked glycosylation | Process | - |
| 8 | Homo sapiens | IMP | involved_in | protein O-linked glycosylation | Process | 26908613 27391550 |
| 9 | Homo sapiens | IDA | enables | acetylglucosaminyltransferase activity | Function | 27493216 |
| 10 | Homo sapiens | IEA | enables | acetylglucosaminyltransferase activity | Function | - |
| 11 | Homo sapiens | IMP | enables | acetylglucosaminyltransferase activity | Function | 26908613 27391550 |
| 12 | Homo sapiens | IEA | involved_in | glycoprotein biosynthetic process | Process | - |
| 13 | Homo sapiens | IMP | located_in | membrane | Component | 27493216 |
| 14 | Homo sapiens | IBA | involved_in | protein O-linked glycosylation via N-acetyl-galactosamine | Process | - |
| 15 | Homo sapiens | IDA | involved_in | protein O-linked glycosylation via N-acetyl-galactosamine | Process | 27493216 |
| 16 | Homo sapiens | IEA | enables | transferase activity | Function | - |
| 17 | Homo sapiens | IEA | enables | glycosyltransferase activity | Function | - |
| 18 | Homo sapiens | IDA | enables | manganese ion binding | Function | 27493216 |
| 19 | Homo sapiens | IEA | enables | carbohydrate binding | Function | - |
| 20 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 21 | Homo sapiens | IBA | enables | beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity | Function | - |
| 22 | Homo sapiens | IDA | enables | beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity | Function | 11742540 |
| 23 | Homo sapiens | TAS | enables | beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity | Function | - |