EML1 Gene
Echinoderm Microtubule-Associated Protein Like 1
Gene Information Card
| Symbol | EML1 |
|---|---|
| Full Name | Echinoderm Microtubule-Associated Protein Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 2009 ncbi.nlm.nih.gov/gene/2009 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | O00423 |
| OMIM ID | 602033 |
| HGNC ID | 3330 |
| Aliases | EMAP-1, EMAPL1, HuEMAP-1 |
Description
EML1 encodes a member of the echinoderm microtubule-associated protein (EMAP) family. The protein binds microtubules and regulates microtubule dynamics, playing a role in cell division and neuronal migration. Mutations in EML1 are associated with cortical malformations, including subcortical band heterotopia and lissencephaly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Subcortical band heterotopia | Loss of EML1 function disrupts microtubule-dependent neuronal migration, leading to ectopic neuron clusters in the white matter. | PMID: 24781753 |
| Lissencephaly 9 | Biallelic EML1 mutations impair cortical lamination, causing a smooth brain phenotype. | PMID: 24781753 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 4.1 | Low |
| Heart | 3.8 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.2 | Neuroblastoma cell line |
| HeLa | 6.7 | Cervical carcinoma |
| HEK293 | 5.4 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.517C>T (p.Arg173*) | Nonsense | Rare | Loss of function; truncation |
| c.1042G>A (p.Gly348Arg) | Missense | Rare | Impaired microtubule binding |
| c.1681_1682del (p.Glu561fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature termination, leading to loss of microtubule-binding activity and neuronal migration defects.
Gain of Function (GOF)
No evidence of gain-of-function mutations in EML1.
Dominant Negative (DN)
Not reported; EML1 mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • microtubule cytoskeleton organization |
| • cell division | • neuron migration |
| • cortical lamination |
Pathways
• Microtubule cytoskeleton regulation
• Neuronal migration pathway
Protein Summary
EML1 is a 60 kDa protein containing a WD40 domain and an EMAP-like domain. It localizes to the mitotic spindle and interphase microtubules, stabilizing microtubules and promoting proper cell division. In neurons, EML1 is essential for radial migration during cortical development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EML1 Knockout HEK293 Cell Line | EDJ-KQ4523 | Human | 2009 | Details Get a Quote |
| EML1 Knockout A-549 Cell Line | EDJ-KQ27133 | Human | 2009 | Details Get a Quote |
| EML1 Knockout HCT 116 Cell Line | EDJ-KQ27134 | Human | 2009 | Details Get a Quote |
| EML1 Knockout HeLa Cell Line | EDJ-KQ27135 | Human | 2009 | Details Get a Quote |
