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Aldh1a3
Gene Detail
 Symbol
Name
ID
Aldh1a3
aldehyde dehydrogenase family 1, subfamily A3
MGI:1861722
Synonyms ALDH6, RALDH3, retinaldehyde dehydrogenase 3, V1
Feature Type protein coding gene
Genetic Map
Chromosome 7
35.73 cM, cytoband C
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr7:66390892-66427517 bp, - strand
From VEGA annotation of GRCm38

  36626 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68080  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: NAD-dependent aldehyde dehydrogenase
Gene Tree: Aldh1a3

Human
homologs
Human Homolog ALDH1A3, aldehyde dehydrogenase 1 family, member A3
NCBI Gene ID 220
neXtProt AC  NX_P47895
Human Synonyms  ALDH1A6, ALDH6, MCOP8, RALDH3
Human Chr (Location)  15q26.3; chr15:100879804-100916626 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human ALDH1A3
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a null allele have a shorter ventral retina and severe nasal defects including choanal atresia which leads to lethal respiratory distress shortly after at birth. Homozygotes for another null allele lack a vitreous body and show neural retina thickening and a retrolenticular membrane.
 
Phenotype Images(1)
Interactions
Aldh1a3 interacts with 226 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (39 annotations)
Process embryonic camera-type eye development, embryonic eye morphogenesis, ...
Component cytoplasm, extracellular vesicular exosome
Function 3-chloroallyl aldehyde dehydrogenase activity, aldehyde dehydrogenase (NAD) activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (63 records)
Data Summary: Results (662)    Tissues (282)    Images (142)
Theiler Stages: 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 2
RNA in situ 605
Northern blot 14
Western blot 5
RT-PCR 36
cDNA source data(60)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(72) cDNA(63) Primer pair(5) Other(4)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000036917 (Evidence)
Ensembl Gene ModelENSMUSG00000015134 (Evidence)
Entrez Gene56847 (Evidence)
UniGene140988
DFCITC1577200, TC1592608, TC1694808
DoTSDT.40182605, DT.97335097
NIA Mouse Gene IndexU028683
EC1.2.1.5
Consensus CDS ProjectCCDS21345.1
International Mouse Knockout Project StatusAldh1a3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036917 VEGA Gene Model | MGI Sequence Detail 36626 C57BL/6J ±  kb
transcript OTTMUST00000094854 VEGA | MGI Sequence Detail 3441 Not Applicable 
polypeptide OTTMUSP00000052868 VEGA | MGI Sequence Detail 512 Not Applicable 

For the selected sequences
All sequences(42) RefSeq(2) UniProt(5)
Polymorphisms SNPs within 2kb(586 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016160 Aldehyde dehydrogenase, conserved site
InterPro IPR016163 Aldehyde dehydrogenase, C-terminal
InterPro IPR015590 Aldehyde dehydrogenase domain
InterPro IPR016162 Aldehyde dehydrogenase, N-terminal
InterPro IPR016161 Aldehyde/histidinol dehydrogenase
Protein Ontology PR:000003922 aldehyde dehydrogenase family 1 member A3
References (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:207861 Manthey AL, et al., Loss of Sip1 leads to migration defects and retention of ectodermal markers during lens development. Mech Dev. 2014 Feb;131:86-110
All references(101)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory