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CORO1A
coronin 1A
The CORO1A gene provides instructions for making the coronin 1A protein, which plays a crucial role in regulating the cell's internal scaffolding and immune system function. The CORO1A gene is essential for producing coronin 1A, a protein involved in the regulation of actin dynamics, a key process for cell movement and shape.
CORO1A is located on the short (p) arm of chromosome 16, at band 16p11.2. Arm ratio per GRCh38 - banding schematic.
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Overview
The CORO1A gene produces the coronin 1A protein, which belongs to the coronin family of proteins that bind to actin. Actin-binding proteins are crucial for cell movement, cell division, and transport within cells, as they interact with and regulate the actin cytoskeleton. Coronin 1A is mainly found in immune cells, indicating its importance in both adaptive and innate immune responses.
Disruptions in coronin 1A function can affect cellular signalling and the development of immune cells, potentially leading to diverse health issues. Research on CORO1A has illuminated cellular mechanisms and immune system disorders.
What the gene does
Coronin 1A, the protein encoded by the CORO1A gene, is primarily involved in managing the actin cytoskeleton inside cells. Actin is a protein that forms filaments, which are essential for maintaining a cell's structure, enabling movement, and facilitating processes such as phagocytosis and cell division. Coronin 1A achieves this by interacting with F-actin, the filamentous form of actin, which influences how it polymerises and depolymerises.
Beyond its role in actin dynamics, coronin 1A also contributes to immune cell function. It participates in various aspects of the immune system, helping to shape immune cell responses and overall defence mechanisms of the body.
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Chromosome location
The CORO1A gene is found on chromosome 16 at band 16p11.2. This specific band on the chromosome contains many genes that are important for different biological processes. Knowing its exact location helps in understanding its genetic context and how it might interact with other genes in the area.
Protein structure
The coronin 1A protein consists of 461 amino acids and contains several distinct structural parts. It has seven WD repeat domains, which are vital for interactions between proteins: WD 1 (amino acids 13-63), WD 2 (amino acids 73-110), WD 3 (amino acids 123-160), WD 4 (amino acids 164-204), WD 5 (amino acids 207-251), WD 6 (amino acids 258-296), and WD 7 (amino acids 302-349). Additionally, the protein includes a Disordered region (amino acids 403-432) and a Coiled coil region (amino acids 424-460), both of which typically play roles in binding and changes in shape.
Key variants
Genetic variations within the CORO1A gene can include several types of changes in the DNA sequence. These variants may alter the structure, function, or expression of the coronin 1A protein. Such changes can potentially impact the protein's ability to interact with actin or fulfil its roles in immune cell regulation, leading to varying health outcomes depending on the specific alteration.
Sample of pathogenic variants
8 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 |
|---|---|---|---|---|
g.(?_30196531)_30199897del | - | Pathogenic | ★☆☆☆ | Severe combined immunodeficiency due to CORO1A deficiency |
c.1060C>T | p.Arg354Ter | Pathogenic | ★☆☆☆ | Severe combined immunodeficiency due to CORO1A deficiency |
c.1078del | p.Gln360fs | Pathogenic | ★☆☆☆ | Severe combined immunodeficiency due to CORO1A deficiency |
c.248_249del | p.Pro83fs | Pathogenic | ★☆☆☆ | Severe combined immunodeficiency due to CORO1A deficiency |
c.3G>A | p.Met1Ile | Pathogenic | ★☆☆☆ | Severe combined immunodeficiency due to CORO1A deficiency |
c.517G>T | p.Glu173Ter | Pathogenic | ★☆☆☆ | Severe combined immunodeficiency due to CORO1A deficiency |
c.855_856del | p.Cys285fs | Pathogenic | ★☆☆☆ | Severe combined immunodeficiency due to CORO1A deficiency |
c.400G>A | p.Val134Met | Pathogenic | - | Severe combined immunodeficiency due to CORO1A deficiency |
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
Although CORO1A is not currently associated with specific named conditions on the Jeen Health panel, variants in this gene may be considered relevant to primary immunodeficiency assessments. These conditions affect the proper functioning of the immune system, potentially making individuals more susceptible to infections and other immune-related complications. The inheritance pattern for conditions linked to CORO1A variants can vary.
No disease links recorded for this gene in our reference set.
UK clinical status
The CORO1A gene's clinical relevance is recognised within the UK's genomic healthcare system. It is listed on NHS England's National Genomic Test Directory within the COVID-19 research green panel and the Primary immunodeficiency or monogenic inflammatory bowel disease green panel (R15). This inclusion indicates that testing for variants in CORO1A may be considered in specific clinical contexts related to these conditions.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the main function of the CORO1A gene?
The CORO1A gene provides instructions for making the coronin 1A protein, which is vital for regulating the actin cytoskeleton, influencing cell movement, and supporting the proper function of immune cells.
How does CORO1A relate to the immune system?
Coronin 1A plays a significant role in immune cell function, which is crucial for an effective immune response within the body.
What type of conditions are associated with CORO1A variants?
Variants in the CORO1A gene may be relevant to primary immunodeficiency disorders, which are conditions that impair the immune system's ability to fight off infections and diseases.