Elongator acetyltransferase complex subunit 1 (ELP1) Associated conditions: 1. Familial dysautonomia
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001318360.2 | NP_001305289.1 | NC_000009.12 | (108867516..108934123, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001330749.2 | NP_001317678.1 | NC_000009.12 | (108867516..108934123, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_003640.5 | NP_003631.2 | NC_000009.12 | (108867516..108934123, 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 Elongator acetyltransferase complex subunit 1 (ELP1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Elongator acetyltransferase complex subunit 1 (ELP1)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IBA | enables | tRNA binding | Function | - |
| 2 | Homo sapiens | IEA | involved_in | tRNA wobble uridine modification | Process | - |
| 3 | Homo sapiens | NAS | involved_in | tRNA wobble uridine modification | Process | 27847465 |
| 4 | Homo sapiens | IBA | involved_in | tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation | Process | - |
| 5 | Homo sapiens | IPI | enables | protein binding | Function | 11714725 15383276 19185337 21903422 22854966 33961781 |
| 6 | Homo sapiens | IEA | located_in | nucleus | Component | - |
| 7 | Homo sapiens | IDA | located_in | nucleoplasm | Component | - |
| 8 | Homo sapiens | IDA | located_in | cytoplasm | Component | 11714725 22854966 |
| 9 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 10 | Homo sapiens | IBA | is_active_in | cytosol | Component | - |
| 11 | Homo sapiens | IDA | located_in | cytosol | Component | - |
| 12 | Homo sapiens | NAS | involved_in | regulation of translation | Process | 22854966 |
| 13 | Homo sapiens | IEA | involved_in | tRNA processing | Process | - |
| 14 | Homo sapiens | IBA | part_of | elongator holoenzyme complex | Component | - |
| 15 | Homo sapiens | IDA | part_of | elongator holoenzyme complex | Component | 22854966 26261306 |
| 16 | Homo sapiens | IEA | part_of | elongator holoenzyme complex | Component | - |