Ubiquitin specific peptidase 45 (USP45) Associated conditions: 1. Leber congenital amaurosis
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001346029.3 | NP_001332958.1 | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NR_144348.2 | - | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NR_144347.2 | - | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NR_144346.3 | - | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NR_144345.3 | - | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NR_144344.3 | - | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NM_032929.3 | NP_116318.2 | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | NM_001346033.2 | NP_001332962.1 | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 9 | REVIEWED | NM_001346030.2 | NP_001332959.1 | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 10 | REVIEWED | NM_001080481.3 | NP_001073950.1 | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 11 | REVIEWED | NM_001346028.3 | NP_001332957.1 | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 12 | REVIEWED | NM_001346027.3 | NP_001332956.1 | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 13 | REVIEWED | NM_001346026.3 | NP_001332955.1 | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 14 | REVIEWED | NM_001346025.3 | NP_001332954.1 | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 15 | REVIEWED | NM_001346024.3 | NP_001332953.1 | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 16 | REVIEWED | NM_001346023.3 | NP_001332952.1 | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 17 | REVIEWED | NM_001346022.3 | NP_001332951.1 | NC_000006.12 | (99432324..99517845, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 18 | REVIEWED | NM_001346021.3 | NP_001332950.1 | NC_000006.12 | (99432324..99517845, 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 Ubiquitin specific peptidase 45 (USP45) 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 | IDA | located_in | photoreceptor inner segment | Component | 30573563 |
| 2 | Homo sapiens | IEA | located_in | photoreceptor inner segment | Component | - |
| 3 | Homo sapiens | ISS | involved_in | neural retina development | Process | - |
| 4 | Homo sapiens | IDA | enables | cysteine-type deubiquitinase activity | Function | 14715245 |
| 5 | Homo sapiens | IEA | enables | cysteine-type deubiquitinase activity | Function | - |
| 6 | Homo sapiens | IMP | enables | cysteine-type deubiquitinase activity | Function | 25538220 30258100 |
| 7 | Homo sapiens | TAS | enables | cysteine-type deubiquitinase activity | Function | - |
| 8 | Homo sapiens | IPI | enables | protein binding | Function | 25538220 30258100 |
| 9 | Homo sapiens | IDA | located_in | nucleus | Component | 25538220 |
| 10 | Homo sapiens | IEA | located_in | nucleus | Component | - |
| 11 | Homo sapiens | IDA | located_in | nucleoplasm | Component | - |
| 12 | Homo sapiens | TAS | located_in | nucleoplasm | Component | - |
| 13 | Homo sapiens | IDA | located_in | cytoplasm | Component | 25538220 |
| 14 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 15 | Homo sapiens | IDA | located_in | cytosol | Component | - |
| 16 | Homo sapiens | IMP | acts_upstream_of_or_within | DNA repair | Process | 25538220 |
| 17 | Homo sapiens | IEA | involved_in | proteolysis | Process | - |
| 18 | Homo sapiens | IEA | enables | peptidase activity | Function | - |
| 19 | Homo sapiens | IEA | enables | cysteine-type peptidase activity | Function | - |
| 20 | Homo sapiens | IEA | enables | zinc ion binding | Function | - |
| 21 | Homo sapiens | IMP | involved_in | cell migration | Process | 30258100 |
| 22 | Homo sapiens | IEA | involved_in | protein deubiquitination | Process | - |
| 23 | Homo sapiens | IMP | acts_upstream_of_or_within | protein deubiquitination | Process | 25538220 |
| 24 | Homo sapiens | IEA | enables | hydrolase activity | Function | - |
| 25 | Homo sapiens | IEA | involved_in | photoreceptor cell maintenance | Process | - |
| 26 | Homo sapiens | ISS | involved_in | photoreceptor cell maintenance | Process | - |
| 27 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 28 | Homo sapiens | TAS | involved_in | global genome nucleotide-excision repair | Process | - |