National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory
Protein Information |
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|---|---|
| Protein Name | Echinoderm microtubule-associated protein-like 1 |
| Accession Code | Q05BC3 |
| Gene | Eml1 |
| Organism | Mus musculus | House mouse (Taxonomy: 10090) |
| Part of Reference Proteome? | Yes |
| Sequence (Length: 814) |
Description |
Position in the Nuclear Envelope |
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|---|---|---|
| Location | Location ID | Description |
| Perinuclear Region | SL-0198 | The perinuclear region is the cytoplasmic region just around the nucleus. | Membrane Topology |
| Topology | Source | Annotation Type |
| Unknown | UniProt | Sequence Analysis | Assigned Ontology terms |
Description |
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|---|---|
| Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se. {Experimental EvidencePubMed:24859200}. | Assigned Ontology terms |
Description |
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|---|---|
| Note=Defects in Eml1 are the cause of the neuronal heterotopia observed in HeCo mice. These mice display heterotopic neurons in the rostro-medial part of the neocortex, together with epilepsy and subtle learning deficits in adults. At 17 dpc both Tbr1(+) and Cux1(+) neurons contribute to the heterotopia. Three days after birth, most Tbr1(+) have reached their final destination, but many Cux1(+) neurons remain in the heterotopia and fail to reach cortical layers II to IV, contrary to the situation in wild-type. Besides, progenitor cells continue to proliferate, resulting in large numbers of abnormally positioned actively proliferating cells during both early and late stages of corticogenesis. In HeCo mice, insertion of a retrotransposon into Eml1 leads to the absence of full-length Eml1 transcripts. | Database Associations |
| OMIM | |
| DisGeNET | |
Interactions with Nuclear Envelope proteins (1 interactors) |
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|---|---|---|---|
Database | Links |
| UNIPROT | Q05BC3 Q05AF8 Q0P5V3 |
| Pfam | PF03451 PF00400 |
| PROSITE | PS00678 PS50082 PS50294 |
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory