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ELP1
elongator acetyltransferase complex subunit 1
The ELP1 gene provides instructions for a protein that is part of the elongator complex, playing a key role in protein production and nerve cell development. The ELP1 gene, or elongator acetyltransferase complex subunit 1, is vital for the synthesis of proteins, particularly those involved in the structural framework and movement of cells.
ELP1 is located on the long (q) arm of chromosome 9, at band 9q31.3. Arm ratio per GRCh38 - banding schematic.
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Overview
The ELP1 gene provides instructions for creating elongator complex protein 1 (ELP1), a component of a six-protein complex known as the elongator complex. This complex is found in many cell types throughout the body, including brain cells, where it is essential for cellular processes.
The elongator complex plays a significant role in transcription, the cellular process that transfers genetic information from DNA into messenger RNA, which then directs protein synthesis. ELP1 is thought to be particularly important for the transcription of proteins that influence the cell's structural integrity and its ability to move.
What the gene does
The ELP1 protein is an integral part of the elongator complex, which is critical for gene expression by regulating transcription. This process is fundamental for converting genetic instructions into functional proteins within the cell. Research suggests the elongator complex, and by extension ELP1, is involved in the production of proteins that are key for maintaining the cellular cytoskeleton and enabling cell motility.
These functions are especially crucial during development. For instance, the cytoskeleton is vital for the growth of nerve cells, including the formation of specialised extensions like axons and dendrites, which are necessary for transmitting nerve impulses. Cell motility is also essential for guiding nerve cells to their correct locations within the brain, ensuring proper brain development and function.
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Chromosome location
The ELP1 gene is located on chromosome 9 at band 9q31.3. This gene's precise position on the chromosome helps in understanding its genetic context and how variations might influence its function.
Protein structure
The ELP1 protein consists of 1332 amino acids. Specific regions within the ELP1 protein have distinct roles. A region spanning amino acids 885-1332 mediates dimerization, which is the process where two protein molecules join together. There is also a Disordered region between amino acids 1150-1208. Furthermore, a specific segment from amino acids 1191-1209 is required for binding to tRNA (transfer RNA), which is critical for protein synthesis.
Key variants
Genetic variations within the ELP1 gene can impact the structure and function of the elongator complex protein 1. These variations may lead to altered protein production or impaired activity, which can affect critical cellular processes, particularly those related to nerve cell development and function. The significance of an ELP1 variant often depends on its specific location and how it modifies the protein.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.1021dup | p.Cys341fs | Pathogenic/Likely pathogenic | ★★☆☆ | Familial dysautonomia |
c.1066_1067dup | p.Tyr357fs | Pathogenic/Likely pathogenic | ★★☆☆ | Familial dysautonomia |
c.1125G>A | p.Trp375Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Familial dysautonomia |
c.1361-2A>G | - | Pathogenic/Likely pathogenic | ★★☆☆ | Familial dysautonomia |
c.1483_1505del | p.Asp495fs | Pathogenic/Likely pathogenic | ★★☆☆ | Familial dysautonomia |
c.1831G>T | p.Glu611Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Familial dysautonomia |
c.2128C>T | p.Gln710Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Familial dysautonomia |
c.223C>T | p.Gln75Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Familial dysautonomia |
c.3286-1G>A | - | Pathogenic/Likely pathogenic | ★★☆☆ | Familial dysautonomia |
c.3332del | p.Pro1111fs | Pathogenic/Likely pathogenic | ★★☆☆ | Familial dysautonomia |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Variations in the ELP1 gene are primarily associated with familial dysautonomia. This inherited condition is typically linked to specific mutations that disrupt the normal splicing of the ELP1 gene during transcription, leading to a reduced amount of functional ELP1 protein. Such deficiencies can impair nerve cell development and function, contributing to the characteristic symptoms of familial dysautonomia.
No disease links recorded for this gene in our reference set.
UK clinical status
The ELP1 gene is included in several NHS Genomic Medicine Service national test panels. It is listed with a 'green' status for conditions such as Childhood solid tumours, Childhood solid tumours cancer susceptibility, Embryonal tumour of possible germline origin (R456), Familial dysautonomia, Hereditary neuropathy, Hereditary neuropathy or pain disorder (R78), and Pain syndromes, indicating that it is routinely analysed in these contexts.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the function of the ELP1 gene?
The ELP1 gene provides instructions for a protein that is a part of the elongator complex. This complex is crucial for transcription, a process that converts genetic information into proteins, and is particularly important for nerve cell development and motility.
Which condition is primarily associated with ELP1 gene variants?
Variants in the ELP1 gene are primarily associated with familial dysautonomia. This condition typically results from mutations that affect the normal production of the ELP1 protein, impacting nerve cell function.
Is ELP1 tested for in the NHS?
Yes, the ELP1 gene is part of several NHS Genomic Medicine Service national test panels, including those for childhood solid tumours, familial dysautonomia, and various hereditary neuropathies.
References
- Ibrahim EC, Hims MM, Shomron N. Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. Human mutation. 2007. PMID: 16964593
- Close P, Hawkes N, Cornez I. Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia. Molecular cell. 2006. PMID: 16713582
- Axelrod FB. Familial dysautonomia. Muscle & nerve. 2004. PMID: 14981733
- Cuajungco MP, Leyne M, Mull J. Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. American journal of human genetics. 2003. PMID: 12577200
- Leyne M, Mull J, Gill SP. Identification of the first non-Jewish mutation in familial Dysautonomia. American journal of medical genetics. Part A. 2003. PMID: 12687659
- Slaugenhaupt SA, Gusella JF. Familial dysautonomia. Current opinion in genetics & development. 2002. PMID: 12076674
- Slaugenhaupt SA, Blumenfeld A, Gill SP. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. American journal of human genetics. 2001. PMID: 11179008
- Anderson SL, Coli R, Daly IW. Familial dysautonomia is caused by mutations of the IKAP gene. American journal of human genetics. 2001. PMID: 11179021