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Tbio
AIPL1
Aryl-hydrocarbon-interacting protein-like 1

Protein Summary
Description
May be important in protein trafficking and/or protein folding and stabilization. Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000250087
  • ENSP00000250087
  • ENSG00000129221
  • ENST00000381129
  • ENSP00000370521
  • ENST00000570466
  • ENSP00000461287
  • ENST00000576307
  • ENSP00000459522
  • ENST00000576776
  • ENSP00000460827

Symbol
  • AIPL2
  • LCA4
  • AIPL2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
virus perturbation
0.68
protein domain
0.58
phenotype
0.53
biological process
0.52
cellular component
0.49


Protein Classes
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: 77.83   (req: < 5)
Gene RIFs: 27   (req: <= 3)
Antibodies: 320   (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: 77.83   (req: >= 5)
Gene RIFs: 27   (req: > 3)
Antibodies: 320   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8
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)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
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 (92)
NUB1
Tbio
Novelty:  0.00736082
Score:  0.985
Data Source:  STRINGDB
GUCY2D
Tbio
Family:  Kinase
Novelty:  0.00578343
Score:  0.868
Data Source:  STRINGDB
AHR
Tclin
Family:  TF
Novelty:  0.37065152
Score:  0.868
Data Source:  STRINGDB
CRB1
Tbio
Novelty:  0.00560299
Score:  0.855
Data Source:  STRINGDB
TULP1
Tbio
Family:  TF
Novelty:  0.0192093
Score:  0.813
Data Source:  STRINGDB
RDH12
Tbio
Family:  Enzyme
Novelty:  0.016003
Score:  0.809
Data Source:  STRINGDB
AIP
Tbio
Novelty:  0.00869592
Score:  0.806
Data Source:  STRINGDB
LCA5
Tbio
Novelty:  0.0379066
Score:  0.801
Data Source:  STRINGDB
CRX
Tbio
Family:  TF
Novelty:  0.00278097
Score:  0.8
Data Source:  STRINGDB
RPE65
Tbio
Family:  Enzyme
Novelty:  0.00147985
Score:  0.793
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (6)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
antisocial behaviour measurement
1
1
1
27.9
1
1
1
27.9
substance abuse
1
1
1
27.9
educational attainment
1
1
1
25.8
body fat distribution
1
1
1
4.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
antisocial behaviour measurement
1
27.9
1
27.9
substance abuse
1
27.9
educational attainment
1
25.8
body fat distribution
1
4.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
aryl hydrocarbon receptor interacting protein like 1
VGNC:9121
468171
Macaque
aryl hydrocarbon receptor interacting protein like 1
574331
Mouse
MGI:2148800
114230
Rat
RGD:70906
59110
Dog
aryl hydrocarbon receptor interacting protein like 1
VGNC:37742
489447
Species
Name
OMA
EggNOG
Inparanoid
Chimp
aryl hydrocarbon receptor interacting protein like 1
Macaque
aryl hydrocarbon receptor interacting protein like 1
Mouse
Rat
Dog
aryl hydrocarbon receptor interacting protein like 1
Publication Statistics
PubMed Score 77.83
PubMed score by year
PubTator Score 58.94
PubTator score by year
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Related Publications
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PMID
Year
Title