aryl-hydrocarbon-interacting protein-like 1 (AIPL1, AIPL2)

Function

• protein trafficking &/or protein folding & stabilization
• interacts with NUB1

Structure

• contains 1 PPIase FKBP-type domain
• contains 3 TPR repeats

Compartment

cytoplasm, nucleus

Alternative splicing

named isoforms=5

Expression

• expressed in retina
• localized to the developing photoreceptor layer & within photoreceptors of adult retina

Pathology

• defects in AIPL1 are a cause of LCA4 (Leber congenital amaurosis type 4)

More general terms

• nuclear protein
• chaperonin; chaperone

Additional terms

• Leber congenital amaurosis

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=23746
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:23746
• OMIM: https://mirror.omim.org/entry/604392
• OMIM: https://mirror.omim.org/entry/604393
• UniProt: http://www.uniprot.org/uniprot/Q9NZN9.html