Centrosome and spindle pole associated protein 1 (CSPP1) 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_001291339.2 | NP_001278268.1 | NC_000008.11 | (67064367..67196613) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001363131.2 | NP_001350060.1 | NC_000008.11 | (67064367..67196613) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001363132.2 | NP_001350061.1 | NC_000008.11 | (67064367..67196613) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001363133.2 | NP_001350062.1 | NC_000008.11 | (67064367..67196613) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001364869.1 | NP_001351798.1 | NC_000008.11 | (67064367..67196613) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_001364870.1 | NP_001351799.1 | NC_000008.11 | (67064367..67196613) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NM_001382391.1 | NP_001369320.1 | NC_000008.11 | (67064367..67196613) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | NM_001438330.1 | NP_001425259.1 | NC_000008.11 | (67064367..67196613) | Reference GRCh38.p14 Primary Assembly | - |
| 9 | REVIEWED | NM_001438331.1 | NP_001425260.1 | NC_000008.11 | (67064367..67196613) | Reference GRCh38.p14 Primary Assembly | - |
| 10 | REVIEWED | NM_001438332.1 | NP_001425261.1 | NC_000008.11 | (67064367..67196613) | Reference GRCh38.p14 Primary Assembly | - |
| 11 | REVIEWED | NM_024790.7 | NP_079066.5 | NC_000008.11 | (67064367..67196613) | 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 Centrosome and spindle pole associated protein 1 (CSPP1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Centrosome and spindle pole associated protein 1 (CSPP1)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IBA | is_active_in | spindle pole | Component | - |
| 2 | Homo sapiens | IDA | located_in | spindle pole | Component | 19129481 |
| 3 | Homo sapiens | IEA | located_in | spindle pole | Component | - |
| 4 | Homo sapiens | IPI | enables | protein binding | Function | 25416956 26638075 32296183 32453716 36606424 |
| 5 | Homo sapiens | IBA | is_active_in | centrosome | Component | - |
| 6 | Homo sapiens | IDA | located_in | centrosome | Component | 21399614 |
| 7 | Homo sapiens | IEA | located_in | centrosome | Component | - |
| 8 | Homo sapiens | IDA | located_in | spindle | Component | 19129481 |
| 9 | Homo sapiens | IEA | located_in | spindle | Component | - |
| 10 | Homo sapiens | IEA | located_in | microtubule | Component | - |
| 11 | Homo sapiens | IDA | located_in | cilium | Component | 36606424 |
| 12 | Homo sapiens | IEA | located_in | cilium | Component | - |
| 13 | Homo sapiens | IBA | involved_in | positive regulation of cytokinesis | Process | - |
| 14 | Homo sapiens | IEA | involved_in | positive regulation of cytokinesis | Process | - |
| 15 | Homo sapiens | IMP | involved_in | positive regulation of cytokinesis | Process | 19129481 |
| 16 | Homo sapiens | IPI | enables | identical protein binding | Function | 32453716 |
| 17 | Homo sapiens | IMP | involved_in | positive regulation of cell division | Process | 19129481 |