AIPL1
Identifiers
AliasesAIPL1, AIPL2, LCA4, aryl hydrocarbon receptor interacting protein like 1
External IDsOMIM: 604392 MGI: 2148800 HomoloGene: 22806 GeneCards: AIPL1
Orthologs
SpeciesHumanMouse
Entrez

23746

114230

Ensembl

ENSG00000129221

ENSMUSG00000040554

UniProt

Q9NZN9

Q924K1

RefSeq (mRNA)

NM_053245

RefSeq (protein)

NP_444475

Location (UCSC)Chr 17: 6.39 – 6.44 MbChr 11: 71.92 – 71.93 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Aryl-hydrocarbon-interacting protein-like 1 is a protein that in humans is encoded by the AIPL1 gene.[5][6][7][8]

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]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000129221 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040554 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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 2581448. PMID 10615133.
  6. 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. Bibcode:2003PNAS..10012630R. doi:10.1073/pnas.2134194100. PMC 240669. PMID 14555765.
  7. 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 518851. PMID 15365173.
  8. 1 2 "Entrez Gene: AIPL1 aryl hydrocarbon receptor interacting protein-like 1".
  9. 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 2585502. PMID 12374762.

Further reading


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