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

Gene ID: 23746, updated on 11-Jul-2015
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; HPRD:05092; MIM:604392; Vega:OTTHUMG00000102043
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]
Orthologs
mouse all
See AIPL1 in Epigenomics
Location:
17p13.1
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (6423737..6435199, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (6327057..6338576, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371509 Neighboring gene basic transcription factor 3 pseudogene 14 Neighboring gene family with sequence similarity 64, member A Neighboring gene PITPNM family member 3 Neighboring gene KIAA0753 Neighboring gene thioredoxin domain containing 17

Go to nucleotide: Graphics FASTA GenBank

Related articles in PubMed

  1. Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy. Aboshiha J, et al. Ophthalmology, 2015 Apr. PMID 25596619
  2. Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son. Arcot Sadagopan K, et al. Ophthalmic Genet, 2015 Jun. PMID 24093488
  3. Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients. Verma A, et al. PLoS One, 2013. PMID 24066033, Free PMC Article
  4. 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
  5. 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

See all (68) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. Gene therapy based approach may be worthy of consideration in a small group of selected patients with preserved outer retinal structure in AIPL1 Leber's congenital amaurosis.
    Title: Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy.
  2. Mutations in the AIPL1 and RDH12 genes associated with leber congenital amaurosis in two Turkish families.
    Title: Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
  3. 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.
  4. The unique proline-rich domain of AIPL1 is important for its chaperone function as its truncation severely affects the ability of AIPL1 to bind non-native proteins.
    Title: Unique proline-rich domain regulates the chaperone function of AIPL1.
  5. implicate FAT10 in retinal cell biology and Leber congenital amaurosis pathogenesis, and reveal a new role of AIPL1 in regulating the FAT10 pathway.
    Title: The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway.
  6. Patients with mutations in AIPL1 may present with Leber congenital amaurosis and residual ERGs (electroretinography) characterized by slow insensitive scotopic responses.
    Title: Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.
  7. AIPL1-Leber congenital amaurosis (LCA), unlike some other forms of LCA with equally severe visual disturbance, shows profound loss of foveal as well as extrafoveal photoreceptors.
    Title: Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
  8. Observational study of genetic testing. (HuGE Navigator)
    Title: Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
  9. AIPL1 is needed for the proper functioning and survival of cone photoreceptors.
    Title: The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells.
  10. Variations of macular microstructures were observed among LCA (Leber congenital amaurosis) patients with different genotypes.
    Title: Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
Submit: New GeneRIF Correction See all (22)

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

Review eQTL and phenotype association data in this region using PheGenI

See Variation Viewer (GRCh37.p13)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
farnesylated protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
unfolded protein binding TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
  
phototransduction, visible light IEA
Inferred from Electronic Annotation
more info
  
protein farnesylation IDA
Inferred from Direct Assay
more info
 PubMed 
protein folding IEA
Inferred from Electronic Annotation
more info
  
regulation of cGMP metabolic process IEA
Inferred from Electronic Annotation
more info
  
retina homeostasis IEA
Inferred from Electronic Annotation
more info
  
visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
aryl-hydrocarbon-interacting protein-like 1

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
    5001..16463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001033054.2 → 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
    F1T0B6
    UniProtKB/Swiss-Prot
    Q9NZN9
    Related
    ENSP00000250087, OTTHUMP00000257717, ENST00000250087, OTTHUMT00000439077
    Conserved Domains (2) summary
    pfam00254
    Location:29 → 89
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    sd00006
    Location:119 → 213
    TPR; putative protein binding surface [polypeptide binding]

  2. NM_001033055.2 → 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, AF525970, AJ633677, BU737234
    Consensus CDS
    CCDS32539.1
    UniProtKB/TrEMBL
    F1T0B6
    UniProtKB/Swiss-Prot
    Q9NZN9
    Conserved Domains (2) summary
    PLN03088
    Location:201 → 244
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
    sd00006
    Location:122 → 216
    TPR; putative protein binding surface [polypeptide binding]

  3. NM_001285399.2 → 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, AF525970, BU737234, BX537907
    Consensus CDS
    CCDS67131.1
    UniProtKB/TrEMBL
    F1T0B6
    UniProtKB/TrEMBL
    Q7Z3H1
    UniProtKB/Swiss-Prot
    Q9NZN9
    Conserved Domains (2) summary
    PLN03088
    Location:249 → 292
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
    sd00006
    Location:170 → 264
    TPR; putative protein binding surface [polypeptide binding]

  4. NM_001285400.2 → 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, AF525970, AJ830742, BU737234
    Consensus CDS
    CCDS67130.1
    UniProtKB/TrEMBL
    F1T0B6
    UniProtKB/Swiss-Prot
    Q9NZN9
    Conserved Domains (2) summary
    PLN03088
    Location:239 → 282
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
    sd00006
    Location:160 → 254
    TPR; putative protein binding surface [polypeptide binding]

  5. NM_001285401.2 → 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, AF525970, AJ830743, BU737234
    Consensus CDS
    CCDS67133.1
    UniProtKB/TrEMBL
    F1T0B6
    UniProtKB/Swiss-Prot
    Q9NZN9
    Conserved Domains (3) summary
    pfam00254
    Location:29 → 89
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    pfam13414
    Location:180 → 271
    TPR_11; TPR repeat
    sd00006
    Location:182 → 252
    TPR; putative protein binding surface [polypeptide binding]

  6. NM_001285402.1 → 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
    F1T0B6
    UniProtKB/TrEMBL
    F1T0C0
    Conserved Domains (2) summary
    PLN03088
    Location:222 → 265
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
    sd00006
    Location:143 → 237
    TPR; putative protein binding surface [polypeptide binding]

  7. NM_001285403.2 → 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, AF525970
    Consensus CDS
    CCDS67132.1
    UniProtKB/TrEMBL
    F1T0B5
    UniProtKB/TrEMBL
    F1T0C4
    UniProtKB/Swiss-Prot
    Q9NZN9
    Related
    ENSP00000460134, OTTHUMP00000257724, ENST00000571740, OTTHUMT00000439085
    Conserved Domains (3) summary
    pfam00254
    Location:29 → 89
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    pfam13414
    Location:172 → 253
    TPR_11; TPR repeat
    sd00006
    Location:174 → 234
    TPR; putative protein binding surface [polypeptide binding]

  8. NM_014336.4 → 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/TrEMBL
    F1T0B6
    UniProtKB/Swiss-Prot
    Q9NZN9
    Related
    ENSP00000370521, OTTHUMP00000128207, ENST00000381129, OTTHUMT00000219828
    Conserved Domains (3) summary
    cd00189
    Location:180 → 296
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
    pfam00254
    Location:29 → 89
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    pfam13414
    Location:180 → 261
    TPR_11; TPR repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    6423737..6435199
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    6336285..6347951
    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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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