Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Aryl-hydrocarbon-interacting protein-like 1 (AIPL1) appears to function as a photoreceptor-specific molecular chaperone. Mutations in the AIPL1 gene cause Leber's congenital amaurosis (LCA), which is characterised by profound visual impairment or loss at birth []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Ku CA |
Year: |
2015 |
Journal: |
Hum Mol Genet |
Title: |
Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model. |
Volume: |
24 |
Issue: |
3 |
Pages: |
670-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hidalgo-de-Quintana J |
Year: |
2015 |
Journal: |
PLoS One |
Title: |
The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium. |
Volume: |
10 |
Issue: |
3 |
Pages: |
e0121440 |
|
•
•
•
•
•
|
Publication |
First Author: |
Makino CL |
Year: |
2006 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Effects of low AIPL1 expression on phototransduction in rods. |
Volume: |
47 |
Issue: |
5 |
Pages: |
2185-94 |
|
•
•
•
•
•
|
Publication |
First Author: |
Akey DT |
Year: |
2002 |
Journal: |
Hum Mol Genet |
Title: |
The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. |
Volume: |
11 |
Issue: |
22 |
Pages: |
2723-33 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sun X |
Year: |
2010 |
Journal: |
Gene Ther |
Title: |
Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations. |
Volume: |
17 |
Issue: |
1 |
Pages: |
117-31 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tan MH |
Year: |
2009 |
Journal: |
Hum Mol Genet |
Title: |
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. |
Volume: |
18 |
Issue: |
12 |
Pages: |
2099-114 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
179
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
61
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
204
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
328
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Sohocki MM |
Year: |
2001 |
Journal: |
Mamm Genome |
Title: |
Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans. |
Volume: |
12 |
Issue: |
7 |
Pages: |
566-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu X |
Year: |
2004 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase. |
Volume: |
101 |
Issue: |
38 |
Pages: |
13903-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ramamurthy V |
Year: |
2004 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. |
Volume: |
101 |
Issue: |
38 |
Pages: |
13897-902 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ramamurthy V |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. |
Volume: |
100 |
Issue: |
22 |
Pages: |
12630-5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Dyer MA |
Year: |
2004 |
Journal: |
Brain Res Mol Brain Res |
Title: |
Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis. |
Volume: |
132 |
Issue: |
2 |
Pages: |
208-20 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gopalakrishna KN |
Year: |
2016 |
Journal: |
J Biol Chem |
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. |
Volume: |
291 |
Issue: |
31 |
Pages: |
16282-91 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kirschman LT |
Year: |
2010 |
Journal: |
Hum Mol Genet |
Title: |
The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells. |
Volume: |
19 |
Issue: |
6 |
Pages: |
1076-87 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kolandaivelu S |
Year: |
2014 |
Journal: |
Hum Mol Genet |
Title: |
AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells. |
Volume: |
23 |
Issue: |
4 |
Pages: |
1002-12 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yadav RP |
Year: |
2022 |
Journal: |
J Biol Chem |
Title: |
Molecular insights into the maturation of phosphodiesterase 6 by the specialized chaperone complex of HSP90 with AIPL1. |
Volume: |
298 |
Issue: |
3 |
Pages: |
101620 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yadav RP |
Year: |
2019 |
Journal: |
J Biol Chem |
Title: |
Interaction of the tetratricopeptide repeat domain of aryl hydrocarbon receptor-interacting protein-like 1 with the regulatory Pγ subunit of phosphodiesterase 6. |
Volume: |
294 |
Issue: |
43 |
Pages: |
15795-15807 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kolandaivelu S |
Year: |
2009 |
Journal: |
J Biol Chem |
Title: |
AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly. |
Volume: |
284 |
Issue: |
45 |
Pages: |
30853-61 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
Publication |
First Author: |
Singh RK |
Year: |
2014 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Early alteration of retinal neurons in Aipl1-/- animals. |
Volume: |
55 |
Issue: |
5 |
Pages: |
3081-92 |
|
•
•
•
•
•
|
Publication |
First Author: |
Murphy D |
Year: |
2016 |
Journal: |
PLoS Genet |
Title: |
The Musashi 1 Controls the Splicing of Photoreceptor-Specific Exons in the Vertebrate Retina. |
Volume: |
12 |
Issue: |
8 |
Pages: |
e1006256 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bisbach CM |
Year: |
2020 |
Journal: |
Cell Rep |
Title: |
Succinate Can Shuttle Reducing Power from the Hypoxic Retina to the O2-Rich Pigment Epithelium. |
Volume: |
31 |
Issue: |
5 |
Pages: |
107606 |
|
•
•
•
•
•
|
Publication |
First Author: |
Colella P |
Year: |
2011 |
Journal: |
Hum Mol Genet |
Title: |
Non-erythropoietic erythropoietin derivatives protect from light-induced and genetic photoreceptor degeneration. |
Volume: |
20 |
Issue: |
11 |
Pages: |
2251-62 |
|
•
•
•
•
•
|
Publication |
First Author: |
Christiansen JR |
Year: |
2011 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
RAS-converting enzyme 1-mediated endoproteolysis is required for trafficking of rod phosphodiesterase 6 to photoreceptor outer segments. |
Volume: |
108 |
Issue: |
21 |
Pages: |
8862-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Krebs MP |
Year: |
2017 |
Journal: |
PLoS One |
Title: |
Mouse models of human ocular disease for translational research. |
Volume: |
12 |
Issue: |
8 |
Pages: |
e0183837 |
|
•
•
•
•
•
|
Publication |
First Author: |
Murphy D |
Year: |
2015 |
Journal: |
Mol Cell Biol |
Title: |
Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa. |
Volume: |
35 |
Issue: |
10 |
Pages: |
1860-70 |
|
•
•
•
•
•
|
Publication |
First Author: |
Maddala R |
Year: |
2021 |
Journal: |
Sci Rep |
Title: |
Absence of S100A4 in the mouse lens induces an aberrant retina-specific differentiation program and cataract. |
Volume: |
11 |
Issue: |
1 |
Pages: |
2203 |
|
•
•
•
•
•
|
Publication |
First Author: |
Collin GB |
Year: |
2020 |
Journal: |
Cells |
Title: |
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. |
Volume: |
9 |
Issue: |
4 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Shanghai Model Organisms Center |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
Gene Ontology Annotation by the MGI Curatorial Staff |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Helmholtz Zentrum Muenchen GmbH |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
DDB, FB, MGI, GOA, ZFIN curators |
Year: |
2001 |
|
Title: |
Gene Ontology annotation through association of InterPro records with GO terms |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
|
Title: |
Cyagen Biosciences Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
Allele |
Name: |
aryl hydrocarbon receptor-interacting protein-like 1; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
Allele |
Name: |
aryl hydrocarbon receptor-interacting protein-like 1; targeted mutation 1, Tiansen Li |
Allele Type: |
Targeted |
Attribute String: |
Hypomorph |
|
•
•
•
•
•
|
Allele |
Name: |
aryl hydrocarbon receptor-interacting protein-like 1; targeted mutation 1, Visvanathan Ramamurthy |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
aryl hydrocarbon receptor-interacting protein-like 1; targeted mutation 1, Michael A Dyer |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
aryl hydrocarbon receptor-interacting protein-like 1; translational vision research model 119 |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Not Specified |
|
•
•
•
•
•
|
Allele |
Name: |
aryl hydrocarbon receptor-interacting protein-like 1; translational vision research model 127 |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Not Specified |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion, Visvanathan Ramamurthy |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Aipl1/Aipl1 |
Background: |
involves: 129S4/SvJae * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Aipl1/Aipl1 |
Background: |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Aipl1/Aipl1 |
Background: |
involves: 129S7/SvEvBrd |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Aipl1/Aipl1 |
Background: |
C57BL/6J-Aipl1/Pjn |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Aipl1/Aipl1 |
Background: |
C57BL/6J-Aipl1/Pjn |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Aipl1/Aipl1 Tg(Crx-AIPL1*P351)#Visu/? |
Background: |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
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Publication |
First Author: |
Ochocinska MJ |
Year: |
2012 |
Journal: |
J Neurochem |
Title: |
NeuroD1 is required for survival of photoreceptors but not pinealocytes: results from targeted gene deletion studies. |
Volume: |
123 |
Issue: |
1 |
Pages: |
44-59 |
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