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Aldh5a1
Gene Detail
Symbol

Name
ID
Aldh5a1
aldhehyde dehydrogenase family 5, subfamily A1
MGI:2441982
Synonyms
6330403E24Rik, D630032B01Rik, OTTMUSG00000000613, SSADH
Feature Type
protein coding gene
Genetic Map
Chromosome 13
10.77 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr13:24907579-24937661 bp, - strand
From VEGA annotation of GRCm38

  30083 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:840  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: Aldh5a1

Human
homologs
Human Homolog ALDH5A1, aldehyde dehydrogenase 5 family, member A1
NCBI Gene ID 7915
neXtProt AC  NX_P51649
Human Synonyms  SSADH, SSDH
Human Chr (Location)  6p22; chr6:24494969-24537207 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human ALDH5A1
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutation of this gene results in reduced body weight, ataxia, seizures, gliosis of the hippocampus, and early death.
 
Human Diseases Modeled Using Mouse Aldh5a1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Aldh5a1 interacts with 336 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (35 annotations)
Process acetate metabolic process, central nervous system development, ...
Component mitochondrion
Function aldehyde dehydrogenase (NAD) activity, carboxylic acid binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (1 records)
cDNA source data(52)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(54) cDNA(53) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000000603 (Evidence)
Ensembl Gene ModelENSMUSG00000035936 (Evidence)
Entrez Gene214579 (Evidence)
UniGene393311
DFCITC1598329, TC1583411
DoTSDT.87049418, DT.481067
NIA Mouse Gene IndexU034630
EC1.2.1.24
Consensus CDS ProjectCCDS26383.1
International Mouse Knockout Project StatusAldh5a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000000603 VEGA Gene Model | MGI Sequence Detail 30083 C57BL/6J ±  kb
transcript OTTMUST00000001200 VEGA | MGI Sequence Detail 5647 Not Applicable 
polypeptide OTTMUSP00000000561 VEGA | MGI Sequence Detail 523 Not Applicable 

For the selected sequences
All sequences(31) RefSeq(2) UniProt(3)
Polymorphisms
SNPs within 2kb(309 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
InterPro IPR010102 Succinate semialdehyde dehydrogenase
Protein Ontology PR:000003929 succinate-semialdehyde dehydrogenase, mitochondrial
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(55)
Disease annotation references (1)
Other
accession IDs
MGI:1917959, MGI:3701802

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory