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    Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 [ Mus musculus (house mouse) ]

    Gene ID: 114230, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Aipl1provided by MGI
    Official Full Name
    aryl hydrocarbon receptor-interacting protein-like 1provided by MGI
    Primary source
    MGI:MGI:2148800
    See related
    Ensembl:ENSMUSG00000040554 AllianceGenome:MGI:2148800
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    A930007I01Rik
    Summary
    Predicted to enable farnesylated protein binding activity. Acts upstream of or within several processes, including phototransduction, visible light; regulation of opsin-mediated signaling pathway; and retina homeostasis. Located in photoreceptor inner segment. Used to study Leber congenital amaurosis 4. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Leber congenital amaurosis 4; blindness; and retinitis pigmentosa. Orthologous to human AIPL1 (aryl hydrocarbon receptor interacting protein like 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    See Aipl1 in Genome Data Viewer
    Location:
    11 B4; 11 43.81 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (71919527..71933184, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (72028717..72042460, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46262 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:71809517-71809670 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:71809714-71809823 Neighboring gene predicted gene, 23226 Neighboring gene STARR-positive B cell enhancer ABC_E9825 Neighboring gene STARR-positive B cell enhancer ABC_E8421 Neighboring gene PICALM interacting mitotic regulator Neighboring gene PITPNM family member 3 Neighboring gene predicted gene, 46286 Neighboring gene STARR-seq mESC enhancer starr_29899 Neighboring gene RIKEN cDNA 4933427D14 gene Neighboring gene predicted gene, 57849

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis. Dyer MA, et al. Brain Res Mol Brain Res, 2004 Dec 20. PMID 15582159
    2. Effects of low AIPL1 expression on phototransduction in rods. Makino CL, et al. Invest Ophthalmol Vis Sci, 2006 May. PMID 16639031
    3. Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors. Tan MH, et al. Hum Mol Genet, 2009 Jun 15. PMID 19299492, Free PMC Article
    4. Molecular insights into the maturation of phosphodiesterase 6 by the specialized chaperone complex of HSP90 with AIPL1. Yadav RP, et al. J Biol Chem, 2022 Mar. PMID 35065964, Free PMC Article
    5. Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. Ramamurthy V, et al. Proc Natl Acad Sci U S A, 2004 Sep 21. PMID 15365178, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular insights into the maturation of phosphodiesterase 6 by the specialized chaperone complex of HSP90 with AIPL1.
      Title: Molecular insights into the maturation of phosphodiesterase 6 by the specialized chaperone complex of HSP90 with AIPL1.
    2. This study sheds new light on the versatility of tetratricopeptide repeat domain (TPR) domains in protein folding by describing a novel TPR-protein binding partner, Pgamma, and revealing that this subunit imparts AIPL1 selectivity for its client.
      Title: Interaction of the tetratricopeptide repeat domain of aryl hydrocarbon receptor-interacting protein-like 1 with the regulatory Pγ subunit of phosphodiesterase 6.
    3. AIPL1-mediated production of folded PDE6C is markedly elevated in the presence of the inhibitory Pgamma-subunit of PDE6.
      Title: Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client.
    4. mechanistic differences behind the death of rods and cones in retinal degenerative disease caused by deficiencies in AIPL1.
      Title: AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells.
    5. In this chapter, using results obtained from multiple lines of animal models, we discuss the role for AIPL1 in photoreceptors.
      Title: AIPL1 protein and its indispensable role in cone photoreceptor function and survival.
    6. The binding of PDE6A farnesyl is essential to normal function of AIPL1 and its disruption is one of the mechanisms underlying Leber congenital amaurosis.
      Title: Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety.
    7. AIPL1 interacts with the catalytic subunit (alpha) of PDE6 and is needed for the assembly of functional rod PDE6 subunits.
      Title: AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly.
    8. AIPL1 has a role in the retina and in mouse models of Leber congenital amaurosis [review]
      Title: Biochemical function of the LCA linked protein, aryl hydrocarbon receptor interacting protein like-1 (AIPL1). Role of AIPL1 in retina.
    9. AIPL1 enhances the stability of phosphodiesterase and is essential for photoreceptor viability.
      Title: Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase.
    10. Loss of AIPL1 would result in a condition that phenocopies retinal degenerations in the rd mouse and in a subgroup of human
      Title: AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Homology

    Clone Names

    • MGC25485

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables farnesylated protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables peptidyl-prolyl cis-trans isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within phototransduction, visible light IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein farnesylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of opsin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within retina homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    aryl-hydrocarbon-interacting protein-like 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_053245.2 → NP_444475.2  aryl-hydrocarbon-interacting protein-like 1

      See identical proteins and their annotated locations for NP_444475.2

      Status: VALIDATED

      Source sequence(s)
      AF296412, AK020825, BF464935, CK618559
      Consensus CDS
      CCDS24976.1
      UniProtKB/Swiss-Prot
      Q5RI54, Q924K1
      Related
      ENSMUSP00000036279.4, ENSMUST00000048207.10
      Conserved Domains (4) summary
      PLN03088
      Location:261 → 304
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      COG0457
      Location:179 → 321
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:180 → 224
      TPR; TPR repeat [structural motif]
      cl19519
      Location:30 → 89
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      71919527..71933184 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030245477.2 → XP_030101337.1  aryl-hydrocarbon-interacting protein-like 1 isoform X3

      UniProtKB/Swiss-Prot
      Q5RI54, Q924K1
      Conserved Domains (4) summary
      PLN03088
      Location:261 → 304
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      COG0457
      Location:179 → 321
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:180 → 224
      TPR; TPR repeat [structural motif]
      cl19519
      Location:30 → 89
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    2. XM_030245476.2 → XP_030101336.1  aryl-hydrocarbon-interacting protein-like 1 isoform X3

      UniProtKB/Swiss-Prot
      Q5RI54, Q924K1
      Conserved Domains (4) summary
      PLN03088
      Location:261 → 304
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      COG0457
      Location:179 → 321
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:180 → 224
      TPR; TPR repeat [structural motif]
      cl19519
      Location:30 → 89
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    3. XM_006531999.5 → XP_006532062.1  aryl-hydrocarbon-interacting protein-like 1 isoform X2

      Conserved Domains (3) summary
      COG0457
      Location:176 → 324
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:185 → 227
      TPR; TPR repeat [structural motif]
      cl19519
      Location:35 → 94
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    4. XM_006531997.5 → XP_006532060.1  aryl-hydrocarbon-interacting protein-like 1 isoform X1

      See identical proteins and their annotated locations for XP_006532060.1

      Conserved Domains (4) summary
      PLN03088
      Location:266 → 309
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      COG0457
      Location:184 → 326
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:185 → 229
      TPR; TPR repeat [structural motif]
      cl19519
      Location:35 → 94
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q924K1.2 GenPept UniProtKB/Swiss-Prot:Q924K1

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