AIPL1

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AIPL1
Identifiers
Aliases AIPL1, AIPL2, LCA4, aryl hydrocarbon receptor interacting protein like 1
External IDs MGI: 2148800 HomoloGene: 22806 GeneCards: AIPL1
RNA expression pattern
PBB GE AIPL1 219977 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_053245

RefSeq (protein)

NP_444475.2
NP_444475

Location (UCSC) Chr 17: 6.39 – 6.44 Mb Chr 11: 72.03 – 72.04 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Aryl-hydrocarbon-interacting protein-like 1 is a protein that in humans is encoded by the AIPL1 gene.[3][4][5][6]

Function[edit]

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.[6]

Interactions[edit]

AIPL1 has been shown to interact with NUB1.[7]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Sohocki MM, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, Payne AM, Bhattacharya SS, Khaliq S, Qasim Mehdi S, Birch DG, Harrison WR, Elder FF, Heckenlively JR, Daiger SP (Feb 2000). "Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis". Nat. Genet. 24 (1): 79–83. doi:10.1038/71732. PMC 2581448Freely accessible. PMID 10615133. 
  4. ^ Ramamurthy V, Roberts M, van den Akker F, Niemi G, Reh TA, Hurley JB (Oct 2003). "AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins". Proc. Natl. Acad. Sci. U.S.A. 100 (22): 12630–5. doi:10.1073/pnas.2134194100. PMC 240669Freely accessible. PMID 14555765. 
  5. ^ Liu X, Bulgakov OV, Wen XH, Woodruff ML, Pawlyk B, Yang J, Fain GL, Sandberg MA, Makino CL, Li T (Sep 2004). "AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase". Proc. Natl. Acad. Sci. U.S.A. 101 (38): 13903–8. doi:10.1073/pnas.0405160101. PMC 518851Freely accessible. PMID 15365173. 
  6. ^ a b "Entrez Gene: AIPL1 aryl hydrocarbon receptor interacting protein-like 1". 
  7. ^ Akey DT, Zhu X, Dyer M, Li A, Sorensen A, Blackshaw S, Fukuda-Kamitani T, Daiger SP, Craft CM, Kamitani T, Sohocki MM (Oct 2002). "The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1". Hum. Mol. Genet. 11 (22): 2723–33. doi:10.1093/hmg/11.22.2723. PMC 2585502Freely accessible. PMID 12374762. 

External links[edit]

Further reading[edit]

External links[edit]