AGBL carboxypeptidase 5 (AGBL5) Associated conditions: 1. Retinitis pigmentosa
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001035507.3 | NP_001030584.1 | NC_000002.12 | (27050363..27070617) | Reference GRCh38.p14 Primary Assembly | Q8NDL9 |
| 2 | REVIEWED | NM_021831.6 | NP_068603.4 | NC_000002.12 | (27050363..27070617) | Reference GRCh38.p14 Primary Assembly | Q8NDL9 |
| 3 | REVIEWED | NR_104246.2 | - | NC_000002.12 | (27050363..27070617) | Reference GRCh38.p14 Primary Assembly | Q8NDL9 |
| 4 | REVIEWED | NR_138023.2 | - | NC_000002.12 | (27050363..27070617) | Reference GRCh38.p14 Primary Assembly | Q8NDL9 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information AGBL carboxypeptidase 5 (AGBL5) 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 | carboxypeptidase activity | Function | - |
| 2 | Homo sapiens | IBA | enables | metallocarboxypeptidase activity | Function | - |
| 3 | Homo sapiens | IEA | enables | metallocarboxypeptidase activity | Function | - |
| 4 | Homo sapiens | ISS | enables | metallocarboxypeptidase activity | Function | - |
| 5 | Homo sapiens | IDA | located_in | nucleus | Component | 23085998 |
| 6 | Homo sapiens | IEA | located_in | nucleus | Component | - |
| 7 | Homo sapiens | ISS | located_in | nucleus | Component | - |
| 8 | Homo sapiens | IBA | is_active_in | cytoplasm | Component | - |
| 9 | Homo sapiens | IDA | located_in | cytoplasm | Component | - |
| 10 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 11 | Homo sapiens | IEA | located_in | spindle | Component | - |
| 12 | Homo sapiens | IEA | located_in | cytosol | Component | - |
| 13 | Homo sapiens | ISS | located_in | cytosol | Component | - |
| 14 | Homo sapiens | IEA | involved_in | proteolysis | Process | - |
| 15 | Homo sapiens | IEA | enables | peptidase activity | Function | - |
| 16 | Homo sapiens | IEA | enables | metallopeptidase activity | Function | - |
| 17 | Homo sapiens | IEA | enables | zinc ion binding | Function | - |
| 18 | Homo sapiens | IBA | is_active_in | microtubule cytoskeleton | Component | - |
| 19 | Homo sapiens | IBA | enables | tubulin binding | Function | - |
| 20 | Homo sapiens | IEA | enables | tubulin binding | Function | - |
| 21 | Homo sapiens | ISS | enables | tubulin binding | Function | - |
| 22 | Homo sapiens | IEA | enables | hydrolase activity | Function | - |
| 23 | Homo sapiens | IDA | located_in | midbody | Component | 23085998 |
| 24 | Homo sapiens | IEA | located_in | midbody | Component | - |
| 25 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 26 | Homo sapiens | IEA | involved_in | defense response to virus | Process | - |
| 27 | Homo sapiens | ISS | involved_in | defense response to virus | Process | - |
| 28 | Homo sapiens | IDA | located_in | mitotic spindle | Component | 23085998 |