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ELP1
elongator acetyltransferase complex subunit 1
The ELP1 gene provides instructions for producing a protein essential for the elongator complex, which plays a critical role in gene transcription and is widely expressed in various body cells, including those in the brain. ELP1, or elongator acetyltransferase complex subunit 1, is vital for cellular function, particularly in transcription where genetic information is used to make proteins.
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 codes for elongator complex protein 1, a protein integral to the elongator complex. This complex is involved in transcription, a fundamental cellular process that converts genetic information into proteins. The ELP1 protein is found throughout the body, with a notable presence in brain cells.
Research indicates the elongator complex, including the ELP1 protein, is significant for the transcription of proteins that influence the cell's internal framework (cytoskeleton) and its ability to move. These functions are crucial for cellular growth and development, particularly for the specialised extensions of nerve cells called axons and dendrites, which are necessary for transmitting nerve impulses.
What the gene does
The ELP1 gene's primary function is to provide instructions for making a protein that is a key component of the elongator complex. This complex is pivotal in the process of transcription, where the genetic code from DNA is transferred to messenger RNA (mRNA) as a preliminary step to protein synthesis. Within the elongator complex, the ELP1 protein is believed to be important for regulating the transcription of genes involved in maintaining the cell's structural integrity and facilitating cell movement.
These roles are particularly critical during the growth and development of cells. For instance, the cytoskeleton, supported by proteins whose transcription is influenced by the elongator complex, is essential for the growth of nerve cells. This includes the formation of axons and dendrites, which are vital for nerve impulse transmission. Cell motility, also affected by the elongator complex, is important for guiding nerve cells to their correct positions within the brain.
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Chromosome location
The ELP1 gene is situated on chromosome 9, specifically at position 9q31.3. This region denotes its location on the long arm ('q') of chromosome 9, within band 31.3.
Protein structure
The ELP1 protein consists of 1332 amino acids. Specific regions within the protein have been identified with distinct functions. A region spanning amino acids 885-1332 is responsible for mediating dimerization, a process where two protein units combine. Another segment, from amino acids 1150-1208, is described as disordered, meaning it lacks a fixed three-dimensional structure. Furthermore, amino acids 1191-1209 are required for the ELP1 protein to bind to transfer RNA (tRNA).
Key variants
Genetic variations within the ELP1 gene can alter the function of the elongator complex protein 1, potentially affecting its role in transcription and cellular processes. These variants can lead to a reduced amount of functional ELP1 protein, impacting the overall efficiency of the elongator complex and its downstream effects on cell structure and motility. The clinical significance of many identified ELP1 variants is still under investigation, with some classified as pathogenic or likely pathogenic.
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.1066_1067dup | p.Tyr357fs | 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.2128C>T | p.Gln710Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Familial dysautonomia |
c.3286-1G>A | - | Pathogenic/Likely pathogenic | ★★☆☆ | Familial dysautonomia |
c.505C>T | p.Gln169Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Medulloblastoma |
c.628_631dup | p.Val211fs | Pathogenic/Likely pathogenic | ★★☆☆ | Familial dysautonomia |
c.738G>A | p.Trp246Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Medulloblastoma |
c.746C>G | p.Ser249Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Familial dysautonomia |
c.840del | p.Phe282fs | 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 condition is characterised by a dysfunctional autonomic nervous system, which controls involuntary body functions such as breathing, digestion, and blood pressure. Nearly all individuals with familial dysautonomia carry a specific mutation in the ELP1 gene that affects how genetic information is processed during transcription.
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. These panels assess genetic variants associated with specific conditions. ELP1 is part of panels for 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, all of which are categorised as 'green', indicating that there is a strong evidence base for their inclusion in diagnostic testing.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the ELP1 gene?
The ELP1 gene provides instructions for making elongator complex protein 1, a subunit of the elongator complex. This complex is vital for transcription, which is the process of converting genetic information into proteins, and is particularly important for nerve cell development.
What is familial dysautonomia?
Familial dysautonomia is an inherited disorder linked to the ELP1 gene. It affects the autonomic nervous system, leading to problems with involuntary body functions such as breathing, digestion, and temperature regulation.
How does the ELP1 gene relate to nerve cells?
The ELP1 gene is crucial for the proper growth and development of nerve cells. The elongator complex, which contains the ELP1 protein, helps in the transcription of proteins that maintain the cell's structure and enable cell movement, functions critical for the formation and positioning of nerve cells.
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