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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
Gene Name
Ensembl ID
  • ENST00000265602
  • ENSP00000265602
  • ENSG00000135541
  • ENST00000327035
  • ENSP00000322478
  • ENST00000367800
  • ENSP00000356774
  • ENST00000457866
  • ENSP00000388650
  • ENST00000531788
  • ENSP00000432167

Symbol
  • ORF1
  • AHI-1
  • JBTS3
  • dJ71N10.1
Illumination Graph
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


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: 106.08   (req: < 5)
Gene RIFs: 47   (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: 106.08   (req: >= 5)
Gene RIFs: 47   (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
GWAS Traits (15)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
2
1
0
1.1
81.8
1
1
0
1
67.2
Eczema
1
1
0
1
67.2
neutrophil count
2
2
2
66.8
leukocyte count
2
2
2
64.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.1
81.8
0
1
67.2
Eczema
0
1
67.2
neutrophil count
2
66.8
leukocyte count
2
64.1
Protein Data Bank (1)
1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (5)
Anchoring of the basal body to the plasma membrane (R-HSA-5620912)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Anchoring of the basal body to the plasma membrane
Reactome
Cilium Assembly
Reactome
Organelle biogenesis and maintenance
Name
Explore in Pharos
Explore in Source
Anchoring of the basal body to the plasma membrane
Cilium Assembly
Organelle biogenesis and maintenance
Gene Ontology Terms (33)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Physical Interaction (IPI)
IntAct
Protein-Protein Interactions (186)
1 – 10 of 186
LAD1
Tbio
Novelty: 0.03059679
p_int: 0.999967948
p_ni: 0.000032052
Data Source: BioPlex
ALDH5A1
Tclin
Family: Enzyme
Novelty: 0.00461791
p_int: 0.999935946
p_ni: 0.000064054
Data Source: BioPlex
DOCK5
Tbio
Novelty: 0.03153692
p_int: 0.998932259
p_ni: 0.000009728
p_wrong: 0.001058012
Score: 0.245
Data Source: BioPlex,STRINGDB
CORO2A
Tbio
Novelty: 0.03292199
p_int: 0.864881683
p_ni: 0.053724006
p_wrong: 0.081394311
Data Source: BioPlex
NPHP1
Tbio
Novelty: 0.01113034
Score: 0.995
Data Source: STRINGDB
CEP290
Tbio
Novelty: 0.00526375
Score: 0.992
Data Source: STRINGDB
TMEM67
Tbio
Novelty: 0.02573267
Score: 0.991
Data Source: STRINGDB
RPGRIP1L
Tbio
Novelty: 0.00819421
Score: 0.99
Data Source: STRINGDB
CC2D2A
Tbio
Novelty: 0.03684487
Score: 0.99
Data Source: STRINGDB
TMEM216
Tbio
Novelty: 0.07870718
Score: 0.986
Data Source: STRINGDB
Publication Statistics
PubMed Score  106.08

PubMed score by year
PubTator Score  152.27

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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