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

Gene ID: 23746, updated on 11-Apr-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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Location:
17p13.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (6423738..6435121, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (6323481..6334848, complement)
105.20220307 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
  • 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. Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration. Sacristan-Reviriego A, et al. Sci Rep, 2020 Oct 16. PMID 33067476, Free PMC Article
  2. Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1. Lukovic D, et al. Sci Rep, 2020 Mar 25. PMID 32214115, Free PMC Article
  3. [Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy]. Wang L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2019 Nov 10. PMID 31703130
  4. A new novel nonsense mutation in AIPL1 in a LCA4 family. Wan L, et al. Ophthalmic Genet, 2019 Aug. PMID 31576779
  5. A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. Gumus E, et al. Fetal Pediatr Pathol, 2020 Jun. PMID 31342828

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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NEW Try the new Transcript table

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_2023_10

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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