Tbio EML1 Echinoderm microtubule-associated protein-like 1

Protein Summary

Description

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. Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• O00423
• Q86U15
• Q8N536
• Q8N5C4
• Q8WWL6
• EMAP-1

Gene Name

• EML1

Ensembl ID

• ENST00000262233
• ENSP00000262233
• ENSG00000066629
• ENST00000334192
• ENSP00000334314

Symbol

• EMAP1
• EMAPL
• EMAPL1
• BH
• EMAP
• ELP79
• EMAPL
• HuEMAP

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.76
protein domain	0.73
microRNA	0.71
PubMedID	0.68
transcription factor	0.62

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 120.02   (req: < 5)

Gene RIFs: 5   (req: <= 3)

Antibodies: 78   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 120.02   (req: >= 5)

Gene RIFs: 5   (req: > 3)

Antibodies: 78   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0