NIMA related kinase 1 (NEK1) Associated conditions: 1. Amyotrophic lateral sclerosis 2. Asphyxiating thoracic dystrophy 3 3. Jeune thoracic dystrophy 4. Short-rib thoracic dysplasia 6 with or without polydactyly
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001199397.3 | NP_001186326.1 | NC_000004.12 | (169392808..169612582, complement) | Reference GRCh38.p14 Primary Assembly | Q96PY6 |
| 2 | REVIEWED | NM_001199398.3 | NP_001186327.1 | NC_000004.12 | (169392808..169612582, complement) | Reference GRCh38.p14 Primary Assembly | Q96PY6 |
| 3 | REVIEWED | NM_001199399.3 | NP_001186328.1 | NC_000004.12 | (169392808..169612582, complement) | Reference GRCh38.p14 Primary Assembly | Q96PY6 |
| 4 | REVIEWED | NM_001199400.3 | NP_001186329.1 | NC_000004.12 | (169392808..169612582, complement) | Reference GRCh38.p14 Primary Assembly | Q96PY6 |
| 5 | REVIEWED | NM_001374418.1 | NP_001361347.1 | NC_000004.12 | (169392808..169612582, complement) | Reference GRCh38.p14 Primary Assembly | Q96PY6 |
| 6 | REVIEWED | NM_001374419.1 | NP_001361348.1 | NC_000004.12 | (169392808..169612582, complement) | Reference GRCh38.p14 Primary Assembly | Q96PY6 |
| 7 | REVIEWED | NM_001374420.1 | NP_001361349.1 | NC_000004.12 | (169392808..169612582, complement) | Reference GRCh38.p14 Primary Assembly | Q96PY6 |
| 8 | REVIEWED | NM_001374421.1 | NP_001361350.1 | NC_000004.12 | (169392808..169612582, complement) | Reference GRCh38.p14 Primary Assembly | Q96PY6 |
| 9 | REVIEWED | NM_001374422.1 | NP_001361351.1 | NC_000004.12 | (169392808..169612582, complement) | Reference GRCh38.p14 Primary Assembly | Q96PY6 |
| 10 | REVIEWED | NM_001374423.1 | NP_001361352.1 | NC_000004.12 | (169392808..169612582, complement) | Reference GRCh38.p14 Primary Assembly | Q96PY6 |
| 11 | REVIEWED | NM_012224.4 | NP_036356.1 | NC_000004.12 | (169392808..169612582, complement) | Reference GRCh38.p14 Primary Assembly | Q96PY6 |
| 12 | REVIEWED | NR_164630.1 | - | NC_000004.12 | (169392808..169612582, complement) | Reference GRCh38.p14 Primary Assembly | Q96PY6 |
| 13 | REVIEWED | NR_164631.1 | - | NC_000004.12 | (169392808..169612582, complement) | Reference GRCh38.p14 Primary Assembly | Q96PY6 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information NIMA related kinase 1 (NEK1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene NIMA related kinase 1 (NEK1)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IDA | located_in | pericentriolar material | Component | 21211617 |
| 2 | Homo sapiens | IBA | enables | protein kinase activity | Function | 21873635 |
| 3 | Homo sapiens | IDA | enables | protein kinase activity | Function | 15604234 |
| 4 | Homo sapiens | IEA | enables | protein serine/threonine kinase activity | Function | - |
| 5 | Homo sapiens | IEA | enables | protein tyrosine kinase activity | Function | - |
| 6 | Homo sapiens | IPI | enables | protein binding | Function | 14690447 24510904 24947832 26167768 26290490 |
| 7 | Homo sapiens | IEA | enables | ATP binding | Function | - |
| 8 | Homo sapiens | IDA | located_in | nucleus | Component | 15604234 |
| 9 | Homo sapiens | IDA | located_in | nucleoplasm | Component | - |
| 10 | Homo sapiens | IDA | located_in | cytoplasm | Component | 15604234 |
| 11 | Homo sapiens | IDA | located_in | centrosome | Component | 21399614 |
| 12 | Homo sapiens | IDA | located_in | cytosol | Component | - |
| 13 | Homo sapiens | IDA | involved_in | protein phosphorylation | Process | 19158487 |
| 14 | Homo sapiens | IEA | involved_in | cell cycle | Process | - |
| 15 | Homo sapiens | IMP | enables | kinase activity | Function | 19158487 |
| 16 | Homo sapiens | IDA | located_in | centriolar satellite | Component | - |
| 17 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 18 | Homo sapiens | IEA | involved_in | cell division | Process | - |
| 19 | Homo sapiens | IMP | involved_in | cilium assembly | Process | 21211617 |
| 20 | Homo sapiens | ISS | enables | 14-3-3 protein binding | Function | - |
| 21 | Homo sapiens | IEA | enables | protein serine kinase activity | Function | - |