Protein Summary
May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity). The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
- ENST00000264276
- ENSP00000264276
- ENSG00000003393
- ENST00000467448
- ENSP00000429223
- ALS2CR6
- KIAA1563
- ALSJ
- PLSJ
- IAHSP
- ALS2CR6
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
drug perturbation | 0.96 | ||
protein domain | 0.92 | ||
transcription factor binding site profile | 0.87 | ||
kinase perturbation | 0.84 | ||
molecular function | 0.84 | ||
Protein Classes
IDG Development Level Summary
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: 170.36 (req: < 5)
Gene RIFs: 40 (req: <= 3)
Antibodies: 235 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 170.36 (req: >= 5)
Gene RIFs: 40 (req: > 3)
Antibodies: 235 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 24
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0