ELP1 Gene - Elongator Complex Protein 1
Key regulator of tRNA modification and neuronal development
Gene Information Card
| Symbol | ELP1 |
|---|---|
| Full Name | Elongator Acetyltransferase Complex Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q31.3 |
| NCBI Gene ID | 8518 ncbi.nlm.nih.gov/gene/8518 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | O95163 |
| OMIM ID | 603722 |
| HGNC ID | 3259 |
| Aliases | IKAP, IKBKAP, DKFZp686A0127 |
Description
The ELP1 gene encodes a scaffold protein that is a core component of the elongator complex, which is involved in transcriptional elongation and tRNA modification. It is essential for proper neuronal development and function. Mutations in ELP1 cause familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy. The gene is widely expressed, with highest levels in the nervous system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial dysautonomia (FD) | Splicing mutation (c.2204+6T>C) leads to exon 20 skipping, reduced ELP1 protein in neurons, impairing tRNA modification and neuronal survival. | ClinVar, OMIM |
| Hereditary sensory neuropathy type III | Same mutation as FD; autosomal recessive; loss of ELP1 function disrupts elongator complex activity. | OMIM, NCBI |
| Medulloblastoma | Somatic mutations and copy number alterations in ELP1 are recurrent in SHH-subtype medulloblastoma. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Cerebellum | 18.7 | High |
| Heart | 8.3 | Medium |
| Liver | 5.1 | Low |
| Kidney | 6.4 | Medium |
| Testis | 12.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 22.4 | Neuronal model |
| HeLa (cervical carcinoma) | 14.7 | Epithelial |
| HEK293 (embryonic kidney) | 11.3 | Common cell line |
| HepG2 (hepatocellular carcinoma) | 7.8 | Liver-derived |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2204+6T>C (IVS20+6T>C) | Splicing | ~99% of FD alleles | Exon 20 skipping, reduced functional ELP1 |
| p.Arg696Pro | Missense | Rare | Impaired elongator complex assembly |
| p.Leu79Pro | Missense | Rare | Loss of protein stability |
| c.3348_3349del | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Majority of ELP1 mutations (e.g., c.2204+6T>C, frameshifts) result in reduced or absent functional protein, leading to impaired tRNA modification and neuronal defects.
Gain of Function (GOF)
No evidence of gain-of-function mutations in ELP1.
Dominant Negative (DN)
Not reported; ELP1 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytosol (GO:0005829) | • elongator holoenzyme complex (GO:0033588) |
| • tRNA modification (GO:0006400) | • regulation of transcription (GO:0006355) |
Pathways
• Elongator complex pathway (Reactome: R-HSA-6781823)
• tRNA modification in the nucleus and cytosol (Reactome: R-HSA-6782315)
Protein Summary
ELP1 (IKAP) is a 1332-amino acid scaffold protein that forms the core of the elongator complex. It binds to ELP2, ELP3, ELP4, ELP5, and ELP6 to facilitate tRNA wobble uridine modification, which is critical for translation fidelity. The protein is predominantly cytoplasmic but also shuttles to the nucleus. Loss of ELP1 function leads to defective tRNA modification, particularly in neurons, causing familial dysautonomia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LELP1 Knockout HEK293 Cell Line | EDJ-KQ2554 | Human | 149018 | Details Get a Quote |
| LELP1 Knockout HeLa Cell Line | EDJ-KQ58620 | Human | 149018 | Details Get a Quote |
| LELP1 Knockout A-549 Cell Line | EDJ-KQ67102 | Human | 149018 | Details Get a Quote |
| LELP1 Knockout HCT 116 Cell Line | EDJ-KQ75512 | Human | 149018 | Details Get a Quote |
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