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

Summary

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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Mouse ENCODE transcriptome data 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

Go to the top of the page Help

Alleles

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

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (2)
Targeted (3) 1 citation

General gene information

Go to the top of the page Help

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
involved_in protein farnesylation	IEA Inferred from Electronic Annotation more info
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

Go to the top of the page Help

Preferred Names: aryl-hydrocarbon-interacting protein-like 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

mRNA and Protein(s)

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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

71919527..71933184 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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