Centrosomal protein 41 (CEP41) Associated conditions: 1. Joubert syndrome
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001257158.2 | NP_001244087.1 | NC_000007.14 | (130393770..130441740, complement) | Reference GRCh38.p14 Primary Assembly | Q9BYV8 |
| 2 | REVIEWED | NM_001257159.2 | NP_001244088.1 | NC_000007.14 | (130393770..130441740, complement) | Reference GRCh38.p14 Primary Assembly | Q9BYV8 |
| 3 | REVIEWED | NM_001257160.2 | NP_001244089.1 | NC_000007.14 | (130393770..130441740, complement) | Reference GRCh38.p14 Primary Assembly | Q9BYV8 |
| 4 | REVIEWED | NM_018718.3 | NP_061188.1 | NC_000007.14 | (130393770..130441740, complement) | Reference GRCh38.p14 Primary Assembly | Q9BYV8 |
| 5 | REVIEWED | NR_046443.2 | - | NC_000007.14 | (130393770..130441740, complement) | Reference GRCh38.p14 Primary Assembly | Q9BYV8 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Centrosomal protein 41 (CEP41) 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 | IPI | enables | protein binding | Function | 22246503 32814053 |
| 2 | Homo sapiens | IDA | located_in | centrosome | Component | 14654843 21399614 |
| 3 | Homo sapiens | IEA | located_in | centrosome | Component | - |
| 4 | Homo sapiens | IDA | located_in | centriole | Component | 22246503 |
| 5 | Homo sapiens | IEA | located_in | centriole | Component | - |
| 6 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 7 | Homo sapiens | IDA | located_in | cilium | Component | 22246503 |
| 8 | Homo sapiens | IEA | located_in | cilium | Component | - |
| 9 | Homo sapiens | IEA | involved_in | protein transport | Process | - |
| 10 | Homo sapiens | HDA | located_in | membrane | Component | 19946888 |
| 11 | Homo sapiens | ISS | involved_in | protein polyglutamylation | Process | - |
| 12 | Homo sapiens | IEA | involved_in | cell projection organization | Process | - |
| 13 | Homo sapiens | IBA | is_active_in | ciliary basal body | Component | - |
| 14 | Homo sapiens | IDA | located_in | ciliary basal body | Component | 22246503 |
| 15 | Homo sapiens | IEA | located_in | ciliary basal body | Component | - |
| 16 | Homo sapiens | IBA | involved_in | cilium assembly | Process | - |
| 17 | Homo sapiens | IEA | involved_in | cilium assembly | Process | - |
| 18 | Homo sapiens | IMP | involved_in | cilium assembly | Process | 22246503 |