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Aipl1 Gene Detail
Summary
  • Symbol
    Aipl1
  • Name
    aryl hydrocarbon receptor-interacting protein-like 1
  • Synonyms
    A930007I01Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2148800
    NCBI Gene: 114230
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:71918789-71928335 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 43.81 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    381 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2148800
 protein coding gene Chr11:71918789-71933184 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018627
 protein coding gene Chr11:72627033-72636563 (-)
A/J MGP_AJ_G0018595
 protein coding gene Chr11:69919775-69929319 (-)
AKR/J MGP_AKRJ_G0018564
 protein coding gene Chr11:72036748-72046294 (-)
BALB/cJ MGP_BALBcJ_G0018567
 protein coding gene Chr11:70208954-70218499 (-)
C3H/HeJ MGP_C3HHeJ_G0018380
 protein coding gene Chr11:72004552-72014098 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019018
 protein coding gene Chr11:74819753-74829299 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016661
 protein coding gene Chr11:66760651-66770374 (-)
CAST/EiJ MGP_CASTEiJ_G0017935
 protein coding gene Chr11:72378300-72392604 (-)
CBA/J MGP_CBAJ_G0018352
 protein coding gene Chr11:78144585-78154126 (-)
DBA/2J MGP_DBA2J_G0018461
 protein coding gene Chr11:69568213-69577764 (-)
FVB/NJ MGP_FVBNJ_G0018452
 protein coding gene Chr11:69087140-69096684 (-)
LP/J MGP_LPJ_G0018532
 protein coding gene Chr11:73147577-73159168 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018475
 protein coding gene Chr11:78731181-78740725 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019060
 protein coding gene Chr11:72252760-72262305 (-)
PWK/PhJ MGP_PWKPhJ_G0017708
 protein coding gene Chr11:70176258-70185873 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017498
 protein coding gene Chr11:71957328-71968270 (-)
WSB/EiJ MGP_WSBEiJ_G0017989
 protein coding gene Chr11:71990052-71999721 (-)



Homology
more
  • Human Ortholog
    AIPL1, aryl hydrocarbon receptor interacting protein like 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AIPL1, aryl hydrocarbon receptor interacting protein like 1
  • Synonyms
    AIPL2, LCA4
  • Links
    NCBI Gene ID: 23746
    neXtProt AC: NX_Q9NZN9
    UniProt: Q9NZN9

  • Chr Location
    17p13.2; chr17:6393693-6435199 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Aipl1 mouse models; 4 with human AIPL1 associations

Human Disease Mouse Models
      
IDs
 View 5 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 5 alleles in 6 genetic backgrounds
    6 phenotypes from multigenic genotypes
    3 images
    29 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mice display complete retinal degeneration and a lack of electroretinographic responses. Homozygous hypomorphic mutants display less severe retinal degeneration and impaired electroretinographic responses.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    33
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040554 Ensembl Gene Model | MGI Sequence Detail 9547 C57BL/6J ±  kb
    transcript ENSMUST00000048207 Ensembl | MGI Sequence Detail 2309 Not Applicable  
    polypeptide ENSMUSP00000036279 Ensembl | MGI Sequence Detail 328 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 33
      cDNA 33

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1925019
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 1
      Diseases 5
      Gene Ontology 7
      Phenotypes 29
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:343953 Yadav RP, et al., Molecular insights into the maturation of phosphodiesterase 6 by the specialized chaperone complex of HSP90 with AIPL1. J Biol Chem. 2022 Jan 21;298(3):101620
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory