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Aldh1a3 Gene Detail
Summary
  • Symbol
    Aldh1a3
  • Name
    aldehyde dehydrogenase family 1, subfamily A3
  • Synonyms
    ALDH6, RALDH3, retinaldehyde dehydrogenase 3, V1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1861722
    NCBI Gene: 56847
  • Gene Overview
    MyGene.info: ALDH1A3
Location & Maps
more
  • Sequence Map
    Chr7:66390890-66427517 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      36628 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ALDH1A3, aldehyde dehydrogenase 1 family member A3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ALDH1A3, aldehyde dehydrogenase 1 family member A3
    Orthology source: HomoloGene
  • Synonyms
    ALDH1A6, ALDH6, MCOP8, RALDH3
  • Links
    NCBI Gene ID: 220
    neXtProt AC: NX_P47895

  • Chr Location
    15q26.3; chr15:100879692-100916626 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ALDH1A3 associations

Human Disease Mouse Models
       Microphthalmia, Isolated 8; MCOP8   OMIM: 615113
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 3 alleles in 3 genetic backgrounds
    21 phenotypes from multigenic genotypes
    1 images
    26 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    8
  • Genomic Mutations
    2 involving Aldh1a3
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036917 VEGA Gene Model | MGI Sequence Detail 36628 C57BL/6J ±  kb
transcript OTTMUST00000094854 VEGA | MGI Sequence Detail 3443 Not Applicable  
polypeptide OTTMUSP00000052868 VEGA | MGI Sequence Detail 512 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    584 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000003922 aldehyde dehydrogenase family 1 member A3
  • EC
  • InterPro Domains
    IPR016163 Aldehyde dehydrogenase, C-terminal
    IPR016160 Aldehyde dehydrogenase, cysteine active site
    IPR015590 Aldehyde dehydrogenase domain
    IPR029510 Aldehyde dehydrogenase, glutamic acid active site
    IPR012394 Aldehyde dehydrogenase NAD(P)-dependent
    IPR016162 Aldehyde dehydrogenase N-terminal domain
    IPR016161 Aldehyde/histidinol dehydrogenase
Molecular
Reagents
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  • All nucleic 72
    cDNA 63
    Primer pair 5
    Other 4

    Microarray probesets 5
References
more
  • Summaries
    All 104
    Developmental Gene Expression 68
    Gene Ontology 14
    Phenotypes 26
  • Earliest
    J:63701 Li H, et al., A retinoic acid synthesizing enzyme in ventral retina and telencephalon of the embryonic mouse. Mech Dev. 2000 Jul;95(1-2):283-9
  • Latest
    J:226683 Rataj-Baniowska M, et al., Retinoic Acid Receptor beta Controls Development of Striatonigral Projection Neurons through FGF-Dependent and Meis1-Dependent Mechanisms. J Neurosci. 2015 Oct 28;35(43):14467-75

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory