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    AIPL1 aryl hydrocarbon receptor interacting protein like 1 [ Homo sapiens (human) ]

    Gene ID: 23746, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AIPL1provided by HGNC
    Official Full Name
    aryl hydrocarbon receptor interacting protein like 1provided by HGNC
    Primary source
    HGNC:HGNC:359
    See related
    Ensembl:ENSG00000129221 MIM:604392; AllianceGenome:HGNC:359
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LCA4; AIPL2
    Summary
    Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See AIPL1 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (6423738..6435121, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (6323481..6334848, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (6327058..6338441, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene basic transcription factor 3 pseudogene 14 Neighboring gene uncharacterized LOC105371509 Neighboring gene uncharacterized LOC107985017 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:6347155-6347733 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:6347797-6348024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6350771-6351437 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:6357121-6357839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6360909-6361690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6361691-6362472 Neighboring gene PICALM interacting mitotic regulator Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6367015-6367566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6367567-6368118 Neighboring gene PITPNM family member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6373134-6373634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6374667-6375190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6377377-6377969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6377970-6378561 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:6396251-6396752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6400873-6401763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6404362-6404908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6447205-6447705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6452242-6452960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6458140-6458786

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Role of AIP and its homologue the blindness-associated protein AIPL1 in regulating client protein nuclear translocation. van der Spuy J, et al. Biochem Soc Trans, 2004 Aug. PMID 15270697
    2. Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy. Tan MH, et al. PLoS One, 2012. PMID 22412862, Free PMC Article
    3. Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1. Pennesi ME, et al. Invest Ophthalmol Vis Sci, 2011 Oct 17. PMID 21900377, Free PMC Article
    4. Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders. Sohocki MM, et al. Genomics, 1999 May 15. PMID 10331942
    5. Analysis of three genes in Leber congenital amaurosis in Indonesian patients. Sitorus RS, et al. Vision Res, 2003 Dec. PMID 14611946

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.
      Title: Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.
    2. A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis.
      Title: A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis.
    3. Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1.
      Title: Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1.
    4. Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.
      Title: Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.
    5. 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.
    6. Mutation in the AIPL1 gene is associated with Leber congenital amaurosis 4.
      Title: A new novel nonsense mutation in AIPL1 in a LCA4 family.
    7. Two novel compound heterozygous AIPL1 variants were detected in two patients with cone-rod dystrophy
      Title: [Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy].
    8. AIPL1 functions as a photoreceptor-specific molecular co-chaperone that interacts specifically with the molecular chaperones HSP90 and HSP70 to facilitate the correct folding and assembly of the retinal cGMP phosphodiesterase (PDE6) holoenzyme. The absence of AIPL1 leads to a dramatic degeneration of rod and cone cells and a complete loss of any light-dependent electrical response. Review.
      Title: The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors.
    9. This review summarizes important recent advances in understanding the mechanisms underlying normal function of AIPL1 and the protein perturbations caused by pathogenic mutations
      Title: AIPL1: A specialized chaperone for the phototransduction effector.
    10. findings offer critical insights into the mechanisms that underlie AIPL1 function in health and disease, and highlight the structural and functional diversity of the FKBPs
      Title: Unique structural features of the AIPL1-FKBP domain that support prenyl lipid binding and underlie protein malfunction in blindness.
    Submit: New GeneRIF Correction See all GeneRIFs (35)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables farnesylated protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptidyl-prolyl cis-trans isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables unfolded protein binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phototransduction, visible light IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within protein farnesylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of opsin-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retina homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
    		  

    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.

    Genomic

    1. NG_008474.1 RefSeqGene

      Range
      5079..16462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033054.3 → NP_001028226.1  aryl-hydrocarbon-interacting protein-like 1 isoform 2

      See identical proteins and their annotated locations for NP_001028226.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AB593052, AF525970, BU737234
      Consensus CDS
      CCDS32540.1
      UniProtKB/TrEMBL
      Q6ZZB5
      Related
      ENSP00000250087.5, ENST00000250087.9
      Conserved Domains (3) summary
      sd00006
      Location:117 → 161
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:117 → 198
      TPR_11; TPR repeat
      cl19519
      Location:30 → 89
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    2. NM_001033055.3 → NP_001028227.1  aryl-hydrocarbon-interacting protein-like 1 isoform 3

      See identical proteins and their annotated locations for NP_001028227.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AB593052, AB593055, AJ633677, BU737234
      Consensus CDS
      CCDS32539.1
      UniProtKB/TrEMBL
      B2RB96
      Related
      ENSP00000459522.1, ENST00000576307.5
      Conserved Domains (2) summary
      sd00006
      Location:120 → 164
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:120 → 201
      TPR_11; TPR repeat

    3. NM_001285399.3 → NP_001272328.1  aryl-hydrocarbon-interacting protein-like 1 isoform 4

      See identical proteins and their annotated locations for NP_001272328.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AB593052, BU737234, BX537907
      Consensus CDS
      CCDS67131.1
      UniProtKB/TrEMBL
      B2RB96, Q7Z3H1
      Related
      ENSP00000458456.1, ENST00000574506.5
      Conserved Domains (2) summary
      sd00006
      Location:168 → 212
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:168 → 249
      TPR_11; TPR repeat

    4. NM_001285400.3 → NP_001272329.1  aryl-hydrocarbon-interacting protein-like 1 isoform 5

      See identical proteins and their annotated locations for NP_001272329.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' coding region, compared to variant 1. The resulting protein (isoform 5) is shorter, compared to isoform 1.
      Source sequence(s)
      AB593052, AJ830742, BU737234
      Consensus CDS
      CCDS67130.1
      UniProtKB/TrEMBL
      B2RB96
      Related
      ENSP00000461287.1, ENST00000570466.5
      Conserved Domains (2) summary
      sd00006
      Location:158 → 202
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:158 → 239
      TPR_11; TPR repeat

    5. NM_001285401.3 → NP_001272330.1  aryl-hydrocarbon-interacting protein-like 1 isoform 6

      See identical proteins and their annotated locations for NP_001272330.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 6) is shorter, compared to isoform 1.
      Source sequence(s)
      AB593052, AB593055, AJ830743, BU737234
      Consensus CDS
      CCDS67133.1
      UniProtKB/TrEMBL
      B2RB96
      Related
      ENSP00000460827.1, ENST00000576776.5
      Conserved Domains (3) summary
      sd00006
      Location:180 → 205
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:180 → 271
      TPR_11; TPR repeat
      cl19519
      Location:30 → 89
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    6. NM_001285402.2 → NP_001272331.1  aryl-hydrocarbon-interacting protein-like 1 isoform 7

      See identical proteins and their annotated locations for NP_001272331.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate splice site in the 5' terminal exon resulting in translation initiation at a downstream start codon, compared to variant 1. The resulting protein (isoform 7) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AB593048, AB593055, BC007994
      UniProtKB/TrEMBL
      B2RB96, F1T0C0
      Conserved Domains (2) summary
      sd00006
      Location:141 → 185
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:141 → 222
      TPR_11; TPR repeat

    7. NM_001285403.4 → NP_001272332.1  aryl-hydrocarbon-interacting protein-like 1 isoform 8

      See identical proteins and their annotated locations for NP_001272332.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses an alternate splice site in the 5' coding region and represents an alternate 3' UTR, compared to variant 1. The resulting protein (isoform 8) is shorter, compared to variant 1.
      Source sequence(s)
      AB593042, AB593051, AC055872, AF525970
      Consensus CDS
      CCDS67132.1
      UniProtKB/TrEMBL
      F1T0B5, F1T0C4
      Related
      ENSP00000460134.1, ENST00000571740.5
      Conserved Domains (3) summary
      sd00006
      Location:172 → 216
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:177 → 197
      TPR_11; TPR repeat
      cl19519
      Location:30 → 89
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    8. NM_014336.5 → NP_055151.3  aryl-hydrocarbon-interacting protein-like 1 isoform 1

      See identical proteins and their annotated locations for NP_055151.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB593052, AF525970, BU737234
      Consensus CDS
      CCDS11075.1
      UniProtKB/Swiss-Prot
      D3DTM4, Q659W3, Q659W4, Q6ZZB6, Q8N6A0, Q9H873, Q9NS10, Q9NZN9
      UniProtKB/TrEMBL
      B2RB96, F1T0B6
      Related
      ENSP00000370521.3, ENST00000381129.8
      Conserved Domains (4) summary
      COG0457
      Location:179 → 297
      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
      cl26005
      Location:261 → 304
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      6423738..6435121 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      6323481..6334848 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZN9.2 GenPept UniProtKB/Swiss-Prot:Q9NZN9

    Gene LinkOut

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