Tbio EFHC1 EF-hand domain-containing protein 1

Protein Summary

Description

Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581). This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

Uniprot Accession IDs

• Q5JVL4
• B4DMU3
• F5GZD8
• Q5XKM4
• Q6E1U7
• Q6E1U8
• Q8WUL2
• Q9NVW6

Gene Name

• EFHC1

Ensembl ID

• ENST00000371068
• ENSP00000360107
• ENSG00000096093
• ENST00000538167
• ENSP00000444521
• ENST00000636489
• ENSP00000489998
• ENST00000636954
• ENSP00000489966

Symbol

• EJM1
• dJ304B14.2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.94
histone modification site profile	0.84
tissue sample	0.7
protein domain	0.58
transcription factor	0.58

Protein Classes

DTO Classes

Zinc Finger Zz-type And Ef-hand Domain-containing Protein 1

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: 59.94   (req: < 5)

Gene RIFs: 26   (req: <= 3)

Antibodies: 151   (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: 59.94   (req: >= 5)

Gene RIFs: 26   (req: > 3)

Antibodies: 151   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

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