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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)
Related
Leber congenital amaurosis
General
chaperonin; chaperone
nuclear protein
Properties
SIZE: MW = 44 kD
entity length = 384 aa
COMPARTMENT: cell nucleus
MOTIF: active site
SITE: 53-145
tetratricopeptide repeat {178-211}
tetratricopeptide repeat {230-263}
tetratricopeptide repeat {264-297}
Database Correlations
OMIM correlations
MORBIDMAP 604392
UniProt Q9NZN9
PFAM correlations
Entrez Gene 23746
Kegg hsa:23746
References
- UniProt :accession Q9NZN9
- Mutations of the AIPL1 gene
Note: Retina International's scientific newsletter
http://www.retina-international.org/files/sci-news/aipl1mut.htm