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EML1
EMAP like 1
EML1 is located on the long (q) arm of chromosome 14, at band 14q32.2. Arm ratio per GRCh38 - banding schematic.
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Overview
EML1 (EMAP like 1) is located on chromosome 14 and encodes a member of the echinoderm microtubule-associated protein family. These proteins are characterised by their ability to bind microtubules, the dynamic polymer structures that provide structural support to cells and segregate chromosomes during cell division.
Research into EML1 remains relatively limited compared to other microtubule-associated proteins. The gene's precise function in human health and disease continues to be investigated, with studies exploring its potential contributions to mitotic spindle assembly and cellular architecture. Understanding how EML1 variants affect protein function may provide insights into broader mechanisms of cytoskeletal regulation.
What the gene does
The EML1 protein functions as a microtubule-associated protein, interacting with the tubulin polymers that form the microtubule network throughout the cell. Microtubules are dynamic structures that continuously grow and shrink, a property essential for their roles in maintaining cell shape, intracellular transport, and chromosome segregation during mitosis.
EML1 belongs to a conserved protein family found across diverse species, suggesting fundamental biological importance. Like other EMAP family members, the protein is thought to influence microtubule stability and organisation, potentially modulating how quickly microtubules assemble or disassemble in response to cellular signals.
During cell division, accurate microtubule dynamics are critical for forming the mitotic spindle, the structure that pulls duplicated chromosomes apart into daughter cells. While the precise molecular mechanisms remain under investigation, EML1 may contribute to spindle positioning or chromosome alignment, processes that ensure genetic material is distributed correctly between dividing cells.
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Chromosome location
EML1 is located on the long arm of chromosome 14 at position 32.2, designated as 14q32.2. This chromosomal region contains numerous genes, and its distal location on chromosome 14 places it near the telomeric end.
The genomic structure of EML1, including its total exon count and regulatory elements, has not been comprehensively detailed in widely accessible databases. The gene produces at least one protein-coding transcript, though alternative splicing patterns have not been extensively characterised.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein. The EML1 protein belongs to the EMAP family based on sequence homology, but specific functional domains have not been annotated in major structural databases.
The length of the full EML1 protein has not been definitively established across all isoforms. Like other EMAP family members, the protein likely contains regions that mediate microtubule binding, though the precise amino acid sequences responsible for this interaction await detailed biochemical characterisation.
Key variants
Genetic variants in EML1 have been identified through genomic sequencing studies, though the clinical significance of most changes remains uncertain. As with many genes involved in fundamental cellular processes, distinguishing between benign population variants and pathogenic changes requires careful functional and clinical correlation.
The inheritance pattern for EML1-related conditions has not been firmly established, reflecting the limited clinical characterisation to date. Ongoing research may clarify whether specific variants follow autosomal dominant, recessive, or other inheritance models.
Sample of pathogenic variants
7 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.1567C>T | p.Arg523Ter | Pathogenic | ★☆☆☆ | Band heterotopia of brain |
c.1715_1735delinsAGAC | p.Ala572fs | Pathogenic | ★☆☆☆ | not provided |
c.1820+1G>C | - | Pathogenic | ★☆☆☆ | Band heterotopia of brain |
c.547+1G>T | - | Pathogenic | ★☆☆☆ | not provided |
c.753_765del | p.Ser252fs | Pathogenic | ★☆☆☆ | not provided |
c.412C>T | p.Arg138Ter | Pathogenic | - | Band heterotopia of brain |
c.673T>C | p.Trp225Arg | Pathogenic | - | Band heterotopia of brain |
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
No specific inherited conditions have been definitively linked to EML1 variants in established medical literature. The gene's role in microtubule regulation suggests potential involvement in developmental or neurological processes, though robust clinical evidence connecting EML1 variants to disease phenotypes remains limited.
As genetic sequencing becomes more widespread, researchers may identify EML1 variants in individuals with unexplained conditions affecting cellular division or cytoskeletal function. Establishing causality requires demonstrating that variants disrupt normal protein function and segregate with disease in families.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the EML1 gene do?
EML1 encodes a microtubule-associated protein that interacts with the cell's internal scaffold. The protein is thought to regulate microtubule dynamics during cell division, though its precise molecular functions are still being investigated.
Where is the EML1 gene located?
The EML1 gene is located on chromosome 14 at position 14q32.2, near the end of the long arm of the chromosome.
Are EML1 variants associated with inherited conditions?
Currently, no specific inherited conditions have been definitively linked to EML1 variants in medical literature. Research into the gene's clinical significance continues as more genomic data becomes available.