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

• Q9NZN9
• D3DTM4
• Q659W3
• Q659W4
• Q6ZZB6
• Q8N6A0
• Q9H873
• Q9NS10

Gene Name

• AIPL1

Ensembl ID

• ENST00000250087
• ENSP00000250087
• ENSG00000129221
• ENST00000381129
• ENSP00000370521
• ENST00000570466
• ENSP00000461287
• ENST00000576307
• ENSP00000459522
• ENST00000576776
• ENSP00000460827

Symbol

• AIPL2
• LCA4
• AIPL2

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

PANTHER Classes

Protein / Chaperone / Aryl-hydrocarbon-interacting Protein-like 1

DTO Classes

Protein / Chaperone / Aryl-hydrocarbon-interacting Protein-like 1

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: 35   (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: 35   (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