KIAA0753 (KIAA0753) Associated conditions: 1. Joubert syndrome 2. Jeune thoracic dystrophy
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001351225.2 | NP_001338154.1 | NC_000017.11 | (6578146..6640710, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_014804.3 | NP_055619.2 | NC_000017.11 | (6578146..6640710, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NR_147086.2 | - | NC_000017.11 | (6578146..6640710, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NR_147087.2 | - | NC_000017.11 | (6578146..6640710, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NR_147088.2 | - | NC_000017.11 | (6578146..6640710, 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 KIAA0753 (KIAA0753) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene KIAA0753 (KIAA0753)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IPI | enables | protein binding | Function | 25416956 26297806 26638075 26871637 32296183 |
| 2 | Homo sapiens | IDA | located_in | centrosome | Component | 21399614 |
| 3 | Homo sapiens | IEA | located_in | centrosome | Component | - |
| 4 | Homo sapiens | IEA | located_in | centriole | Component | - |
| 5 | Homo sapiens | IBA | is_active_in | microtubule organizing center | Component | - |
| 6 | Homo sapiens | IEA | involved_in | centriole replication | Process | - |
| 7 | Homo sapiens | IBA | is_active_in | centriolar satellite | Component | - |
| 8 | Homo sapiens | IDA | located_in | centriolar satellite | Component | 26297806 |
| 9 | Homo sapiens | IEA | located_in | centriolar satellite | Component | - |
| 10 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 11 | Homo sapiens | IEA | enables | iron-sulfur cluster binding | Function | - |
| 12 | Homo sapiens | IEA | enables | 2 iron, 2 sulfur cluster binding | Function | - |
| 13 | Homo sapiens | IMP | involved_in | cilium assembly | Process | 28220259 |
| 14 | Homo sapiens | IMP | involved_in | cytosolic ciliogenesis | Process | 28220259 |
| 15 | Homo sapiens | IBA | involved_in | protein localization to centrosome | Process | - |
| 16 | Homo sapiens | IMP | involved_in | protein localization to centrosome | Process | 26297806 |