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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


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: 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: 120.93   (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
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (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
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
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.

Find Similar Targets
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
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (20)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
multiple sclerosis
3
2
0
1.1
96.2
neutrophil count
2
3
3
83.5
leukocyte count
2
3
3
81.3
juvenile idiopathic arthritis
1
1
0
1.2
69
1
1
0
1.2
62.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
multiple sclerosis
0
1.1
96.2
neutrophil count
3
83.5
leukocyte count
3
81.3
juvenile idiopathic arthritis
0
1.2
69
0
1.2
62.3
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
Abelson helper integration site 1
706412
Mouse
MGI:87971
52906
Rat
RGD:1303040
308923
Dog
Abelson helper integration site 1
476212
Horse
Abelson helper integration site 1
100073172
Species
Name
OMA
EggNOG
Inparanoid
Macaque
Abelson helper integration site 1
Mouse
Rat
Dog
Abelson helper integration site 1
Horse
Abelson helper integration site 1
Publication Statistics
PubMed Score 120.93
PubMed score by year
PubTator Score 152.27
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title