Protein Summary
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]
- ENST00000265602
- ENSP00000265602
- ENSG00000135541
- ENST00000327035
- ENSP00000322478
- ENST00000367800
- ENSP00000356774
- ENST00000457866
- ENSP00000388650
- ENST00000531788
- ENSP00000432167
- ORF1
- AHI-1
- JBTS3
- dJ71N10.1
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
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: 108.49 (req: < 5)
Gene RIFs: 47 (req: <= 3)
Antibodies: 181 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 108.49 (req: >= 5)
Gene RIFs: 47 (req: > 3)
Antibodies: 181 (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
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
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 is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (186)
ALDH5A1
Family: Enzyme
Novelty: 0.00461791
p_int: 0.999935946
p_ni: 0.000064054
Data Source: BioPlex
DOCK5
Novelty: 0.03153692
p_int: 0.998932259
p_ni: 0.000009728
p_wrong: 0.001058012
Score: 0.245
Data Source: BioPlex,STRINGDB
CORO2A
Novelty: 0.03292199
p_int: 0.864881683
p_ni: 0.053724006
p_wrong: 0.081394311
Data Source: BioPlex
Nearest Tclin Targets
Pathways (5)
Reactome (3)
WikiPathways (2)
Click on a row in the table to change the structure displayed.
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)
Gene Ontology Terms (33)
Functions (1)
Components (9)
Processes (23)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Physical Interaction (IPI) | IntAct | |||
Disease Associations ()
GWAS Traits (21)
Items per page:
1 – 5 of 21
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
neutrophil count | 2 | 3 | 3 | 92.2 | |||||
leukocyte count | 2 | 3 | 3 | 90.4 | |||||
3 | 2 | 0 | 1.1 | 89.9 | |||||
eosinophil percentage of leukocytes | 1 | 1 | 1 | 68.6 | |||||
neutrophil percentage of leukocytes | 1 | 1 | 1 | 65.3 | |||||
Items per page:
1 – 5 of 21
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
neutrophil count | 3 | 92.2 | |||||
leukocyte count | 3 | 90.4 | |||||
0 | 1.1 | 89.9 | |||||
eosinophil percentage of leukocytes | 1 | 68.6 | |||||
neutrophil percentage of leukocytes | 1 | 65.3 | |||||
Find similar targets by:
IDG Resources
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 108.49
PubMed score by year
PubTator Score 152.27
PubTator score by year
Related Publications
Text Mined References (64)
GeneRif Annotations (47)
Items per page:
0 of 0
PMID | Year | Title |
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