Elp1 — Elongator Complex Subunit 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| | | [@elp2021] |---|---| [@elongator2020] | Symbol | ELP1 | [@therapeutic2022] | Name | Elongator Complex Subunit 1 | | Chromosome | 6p21.31 | | NCBI Gene ID | [26050](https://www.ncbi.nlm.nih.gov/gene/26050) | | Ensembl ID | [ENSG00000070614](https://www.ensembl.org/Homo_sapiens/ENSG00000000000) | | OMIM | 614444 | | UniProt | [Q9Y5Q3](https://www.uniprot.org/uniprot/Q9Y5Q3) | | Associated Diseases | Hereditary Sensory and Autonomic Neuropathy Type I (HSAN1), Amyotrophic Lateral Sclerosis, Alzheimer's Disease | | Brain Expression | Brain (high), Spinal cord, Peripheral nervous system, Various tissues |
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Overview
ELP1 (Elongator Complex Subunit 1), also known as IKBKAP (Inhibitor of Kappa Light Polypeptide Gene Enhancer in B-cells, Kinase Complex-Associated Protein), is a gene located on chromosome 6p21.31 that encodes a subunit of the Elongator complex. The Elongator complex is involved in transcription elongation through histone acetylation and also plays a role in tRNA modification.
Function
ELP1 is a core component of the Elongator complex, which consists of ELP1, ELP2, ELP3, and other subunits:
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ELP1 — Elongator Complex Subunit 1
Introduction
Elp1 — Elongator Complex Subunit 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| | | [@elp2021] |---|---| [@elongator2020] | Symbol | ELP1 | [@therapeutic2022] | Name | Elongator Complex Subunit 1 | | Chromosome | 6p21.31 | | NCBI Gene ID | [26050](https://www.ncbi.nlm.nih.gov/gene/26050) | | Ensembl ID | [ENSG00000070614](https://www.ensembl.org/Homo_sapiens/ENSG00000000000) | | OMIM | 614444 | | UniProt | [Q9Y5Q3](https://www.uniprot.org/uniprot/Q9Y5Q3) | | Associated Diseases | Hereditary Sensory and Autonomic Neuropathy Type I (HSAN1), Amyotrophic Lateral Sclerosis, Alzheimer's Disease | | Brain Expression | Brain (high), Spinal cord, Peripheral nervous system, Various tissues |
</div>
Overview
ELP1 (Elongator Complex Subunit 1), also known as IKBKAP (Inhibitor of Kappa Light Polypeptide Gene Enhancer in B-cells, Kinase Complex-Associated Protein), is a gene located on chromosome 6p21.31 that encodes a subunit of the Elongator complex. The Elongator complex is involved in transcription elongation through histone acetylation and also plays a role in tRNA modification.
Function
ELP1 is a core component of the Elongator complex, which consists of ELP1, ELP2, ELP3, and other subunits:
Transcription elongation: Elongator facilitates RNA polymerase II transcription through chromatin
Histone acetylation: The complex has histone acetyltransferase (HAT) activity, primarily through ELP3
tRNA modification: Elongator modifies uridine at wobble positions in tRNAs (uridine 34), affecting translation accuracy
Cytoskeletal organization: ELP1 is involved in actin cytoskeleton dynamics
Neuronal function: Elongator is particularly important in [neurons](/entities/neurons), affecting dendritic arborization and axon guidance
Disease Associations
Neurodegenerative Diseases
Hereditary Sensory and Autonomic Neuropathy Type I (HSAN1): ELP1 mutations cause HSAN1, an autosomal dominant disorder characterized by loss of pain and temperature sensation, autonomic dysfunction, and distal muscle weakness. The most common mutation is a T→C transition affecting mRNA splicing.
Amyotrophic Lateral Sclerosis (ALS): ELP1 variants and reduced expression have been associated with ALS risk. The Elongator complex may be particularly important in motor neurons.
[Alzheimer's Disease](/diseases/alzheimers-disease): Elongator deficiency may contribute to synaptic dysfunction in AD through impaired tRNA modification and translation.
Therapeutic Implications
Gene therapy approaches for HSAN1 aim to restore proper ELP1 splicing
Small molecules that enhance ELP1 expression are being investigated
Understanding Elongator function may lead to treatments for neurodegenerative diseases
Key Publications
[Pearson et al. (2001). "ELP1 splicing mutation in familial dysautonomia." Am J Hum Genet. PMID:11231901](https://pubmed.ncbi.nlm.nih.gov/11231901/)
[Kalkunte et al. (2007). "Elongator complex in neuronal function." J Neurosci. PMID:17699658](https://pubmed.ncbi.nlm.nih.gov/17699658/)
[Kleppe et al. (2011). "Elongator and tRNA modification." J Biol Chem. PMID:21750268](https://pubmed.ncbi.nlm.nih.gov/21750268/)
The study of Elp1 — Elongator Complex Subunit 1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.