Protein O-mannosyltransferase 1 (POMT1) Associated conditions: 1. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2. Limb-girdle muscular dystrophy
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NR_148398.2 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 2 | REVIEWED | NM_007171.4 | NP_009102.4 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 3 | REVIEWED | NR_148391.2 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 4 | REVIEWED | NR_148392.2 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 5 | REVIEWED | NR_148393.2 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 6 | REVIEWED | NR_148394.2 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 7 | REVIEWED | NR_148395.2 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 8 | REVIEWED | NR_148396.2 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 9 | REVIEWED | NR_148397.2 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 10 | REVIEWED | NM_001411024.1 | NP_001397953.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 11 | REVIEWED | NR_148399.2 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 12 | REVIEWED | NR_148400.2 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 13 | REVIEWED | XR_001746160.3 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 14 | REVIEWED | XR_007061226.1 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 15 | REVIEWED | XR_007061227.1 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 16 | REVIEWED | XR_007061228.1 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 17 | REVIEWED | XR_007061229.1 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 18 | REVIEWED | XR_007061230.1 | - | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 19 | REVIEWED | NM_001353198.2 | NP_001340127.2 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 20 | REVIEWED | NM_001077366.2 | NP_001070834.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 21 | REVIEWED | NM_001136113.2 | NP_001129585.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 22 | REVIEWED | NM_001136114.2 | NP_001129586.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 23 | REVIEWED | NM_001353193.2 | NP_001340122.2 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 24 | REVIEWED | NM_001353194.2 | NP_001340123.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 25 | REVIEWED | NM_001353195.2 | NP_001340124.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 26 | REVIEWED | NM_001353196.2 | NP_001340125.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 27 | REVIEWED | NM_001353197.2 | NP_001340126.2 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 28 | REVIEWED | NM_001077365.2 | NP_001070833.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 29 | REVIEWED | NM_001353199.2 | NP_001340128.2 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 30 | REVIEWED | NM_001353200.2 | NP_001340129.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 31 | REVIEWED | NM_001374689.1 | NP_001361618.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 32 | REVIEWED | NM_001374690.1 | NP_001361619.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 33 | REVIEWED | NM_001374691.1 | NP_001361620.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 34 | REVIEWED | NM_001374692.1 | NP_001361621.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 35 | REVIEWED | NM_001374693.1 | NP_001361622.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
| 36 | REVIEWED | NM_001374695.1 | NP_001361624.1 | NC_000009.12 | (131502917..131523798) | Reference GRCh38.p14 Primary Assembly | Q9Y6A1 |
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-mannosyltransferase 1 (POMT1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Protein O-mannosyltransferase 1 (POMT1)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IMP | enables | mannosyltransferase activity | Function | 28512129 |
| 2 | Homo sapiens | IEA | located_in | acrosomal vesicle | Component | - |
| 3 | Homo sapiens | IEA | enables | dolichyl-phosphate-mannose-protein mannosyltransferase activity | Function | - |
| 4 | Homo sapiens | TAS | located_in | endoplasmic reticulum | Component | 10366449 |
| 5 | Homo sapiens | IDA | located_in | endoplasmic reticulum membrane | Component | 14699049 |
| 6 | Homo sapiens | TAS | located_in | endoplasmic reticulum membrane | Component | - |
| 7 | Homo sapiens | TAS | involved_in | protein O-linked glycosylation | Process | 10366449 |
| 8 | Homo sapiens | TAS | located_in | membrane | Component | 10366449 |
| 9 | Homo sapiens | IEA | located_in | sarcoplasmic reticulum | Component | - |
| 10 | Homo sapiens | IEA | involved_in | extracellular matrix organization | Process | - |
| 11 | Homo sapiens | IMP | involved_in | protein O-linked mannosylation | Process | 28512129 |
| 12 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 13 | Homo sapiens | IEA | involved_in | positive regulation of protein O-linked glycosylation | Process | - |