Inosine monophosphate dehydrogenase 1 (IMPDH1) Associated conditions: 1. Retinitis pigmentosa 2. Leber congenital amaurosis
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_000883.4 | NP_000874.2 | NC_000007.14 | (128392276..128409981, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001102605.2 | NP_001096075.1 | NC_000007.14 | (128392276..128409981, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001142573.2 | NP_001136045.1 | NC_000007.14 | (128392276..128409981, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001142574.2 | NP_001136046.1 | NC_000007.14 | (128392276..128409981, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001142575.2 | NP_001136047.1 | NC_000007.14 | (128392276..128409981, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_001142576.2 | NP_001136048.1 | NC_000007.14 | (128392276..128409981, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NM_001304521.2 | NP_001291450.1 | NC_000007.14 | (128392276..128409981, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | NM_183243.3 | NP_899066.1 | NC_000007.14 | (128392276..128409981, complement) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Inosine monophosphate dehydrogenase 1 (IMPDH1) 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 | IEA | enables | nucleotide binding | Function | - |
| 2 | Homo sapiens | IDA | enables | nucleic acid binding | Function | 14766016 |
| 3 | Homo sapiens | IDA | enables | DNA binding | Function | 14766016 |
| 4 | Homo sapiens | IEA | enables | DNA binding | Function | - |
| 5 | Homo sapiens | IEA | enables | RNA binding | Function | - |
| 6 | Homo sapiens | IEA | enables | catalytic activity | Function | - |
| 7 | Homo sapiens | IBA | enables | IMP dehydrogenase activity | Function | - |
| 8 | Homo sapiens | IEA | enables | IMP dehydrogenase activity | Function | - |
| 9 | Homo sapiens | TAS | enables | IMP dehydrogenase activity | Function | 1969416 |
| 10 | Homo sapiens | IPI | enables | protein binding | Function | 32296183 |
| 11 | Homo sapiens | TAS | located_in | extracellular region | Component | - |
| 12 | Homo sapiens | IDA | located_in | nucleus | Component | 14766016 |
| 13 | Homo sapiens | IEA | located_in | nucleus | Component | - |
| 14 | Homo sapiens | IBA | is_active_in | cytoplasm | Component | - |
| 15 | Homo sapiens | IDA | located_in | cytoplasm | Component | 14766016 |
| 16 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 17 | Homo sapiens | IDA | located_in | cytosol | Component | - |
| 18 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 19 | Homo sapiens | IEA | involved_in | purine nucleotide biosynthetic process | Process | - |
| 20 | Homo sapiens | IEA | involved_in | GMP biosynthetic process | Process | - |
| 21 | Homo sapiens | IBA | involved_in | GTP biosynthetic process | Process | - |
| 22 | Homo sapiens | IEA | enables | oxidoreductase activity | Function | - |
| 23 | Homo sapiens | TAS | located_in | secretory granule lumen | Component | - |
| 24 | Homo sapiens | TAS | located_in | azurophil granule lumen | Component | - |
| 25 | Homo sapiens | IPI | enables | identical protein binding | Function | 32296183 |
| 26 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 27 | Homo sapiens | IEA | involved_in | 'de novo' XMP biosynthetic process | Process | - |
| 28 | Homo sapiens | TAS | located_in | ficolin-1-rich granule lumen | Component | - |