Tbio AHI1 Jouberin

Protein Summary

Description

Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382). This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

Uniprot Accession IDs

• Q8N157
• E1P584
• Q4FD35
• Q504T3
• Q5TCP9
• Q6P098
• Q6PIT6
• Q8NDX0
• Q9H0H2

Gene Name

• AHI1

Ensembl ID

• ENST00000265602
• ENSP00000265602
• ENSG00000135541
• ENST00000327035
• ENSP00000322478
• ENST00000367800
• ENSP00000356774
• ENST00000457866
• ENSP00000388650
• ENST00000531788
• ENSP00000432167

Symbol

• ORF1
• AHI-1
• JBTS3
• dJ71N10.1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor binding site profile	0.92
histone modification site profile	0.9
biological process	0.89
transcription factor perturbation	0.8
transcription factor	0.69

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: 120.93   (req: < 5)

Gene RIFs: 50   (req: <= 3)

Antibodies: 181   (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: 120.93   (req: >= 5)

Gene RIFs: 50   (req: > 3)

Antibodies: 181   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 24

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