AIPL1

Aryl-hydrocarbon-interacting protein-like 1 is a protein that in humans is encoded by the AIPL1 gene.^[5][6][7][8] The protein is a member of FKBP prolyl isomerase family.

AIPL1
Identifiers
Aliases	AIPL1, AIPL2, LCA4, aryl hydrocarbon receptor interacting protein like 1
External IDs	OMIM: 604392; MGI: 2148800; HomoloGene: 22806; GeneCards: AIPL1; OMA:AIPL1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p13.2 Start 6,393,693 bp[1] End 6,435,199 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 B4 Start 71,918,789 bp[2] End 71,928,335 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell retina retinal pigment epithelium pineal gland deltoid muscle Epithelium of choroid plexus skin of abdomen skin of thigh ventricular zone pituitary gland Top expressed in neural layer of retina retinal pigment epithelium pineal gland epithelium of lens embryo ciliary body iris endothelial cell of lymphatic vessel conjunctival fornix cornea More reference expression data BioGPS More reference expression data
Gene ontology Molecular function unfolded protein binding protein binding farnesylated protein binding peptidyl-prolyl cis-trans isomerase activity Cellular component photoreceptor inner segment cytoplasm nucleus nucleoplasm cytosol Biological process retina homeostasis negative regulation of apoptotic process protein farnesylation response to stimulus visual perception phototransduction, visible light regulation of rhodopsin mediated signaling pathway protein peptidyl-prolyl isomerization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23746 114230 Ensembl ENSG00000129221 ENSMUSG00000040554 UniProt Q9NZN9 Q924K1 RefSeq (mRNA) NM_014336 NM_001033054 NM_001033055 NM_001285399 NM_001285400 NM_001285401 NM_001285402 NM_001285403 NM_053245 RefSeq (protein) NP_001028226 NP_001028227 NP_001272328 NP_001272329 NP_001272330 NP_001272331 NP_001272332 NP_055151 NP_444475 Location (UCSC) Chr 17: 6.39 – 6.44 Mb Chr 11: 71.92 – 71.93 Mb PubMed search [3] [4]
Wikidata
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Function

Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA.^[8]

Interactions

AIPL1 has been shown to interact with NUB1.^[9]

See also

• Aryl hydrocarbon
• Aryl hydrocarbon receptor
• AH receptor-interacting protein, AIP