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Aldh5a1 aldhehyde dehydrogenase family 5, subfamily A1 [ Mus musculus (house mouse) ]

Gene ID: 214579, updated on 4-Jan-2025

Summary

Official Symbol
Aldh5a1provided by MGI
Official Full Name
aldhehyde dehydrogenase family 5, subfamily A1provided by MGI
Primary source
MGI:MGI:2441982
See related
Ensembl:ENSMUSG00000035936 AllianceGenome:MGI:2441982
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
Ahd1; Ahd-1; SSADH; Ssdh1; 6330403E24Rik; D630032B01Rik
Summary
Predicted to enable several functions, including NAD binding activity; identical protein binding activity; and succinate-semialdehyde dehydrogenase (NAD+) activity. Acts upstream of or within carboxylic acid metabolic process and post-embryonic development. Located in mitochondrion. Used to study epilepsy. Human ortholog(s) of this gene implicated in succinic semialdehyde dehydrogenase deficiency. Orthologous to human ALDH5A1 (aldehyde dehydrogenase 5 family member A1). [provided by Alliance of Genome Resources, Jan 2025]
Expression
Ubiquitous expression in cerebellum adult (RPKM 11.4), frontal lobe adult (RPKM 11.3) and 26 other tissues See more
Orthologs
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Genomic context

See Aldh5a1 in Genome Data Viewer
Location:
13 A3.1; 13 10.77 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (25091562..25121740, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (24907579..24937661, complement)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E924 Neighboring gene RIKEN cDNA D130043K22 gene Neighboring gene tyrosyl-DNA phosphodiesterase 2 Neighboring gene STARR-seq mESC enhancer starr_33990 Neighboring gene RIKEN cDNA 4932702P03 gene Neighboring gene cDNA RIKEN 9330162012 gene Neighboring gene STARR-seq mESC enhancer starr_33991 Neighboring gene glycosylphosphatidylinositol specific phospholipase D1 Neighboring gene predicted gene, 34019 Neighboring gene microRNA 12184

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (1)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables NAD binding ISO
Inferred from Sequence Orthology
more info
 
enables carboxylic acid binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables succinate-semialdehyde dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables succinate-semialdehyde dehydrogenase (NAD+) activity ISO
Inferred from Sequence Orthology
more info
 
enables succinate-semialdehyde dehydrogenase (NAD+) activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in central nervous system development ISO
Inferred from Sequence Orthology
more info
 
involved_in central nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in gamma-aminobutyric acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in gamma-aminobutyric acid catabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within gamma-aminobutyric acid catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in gamma-aminobutyric acid catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in gamma-aminobutyric acid catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within gamma-aminobutyric acid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within glutamate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within post-embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within succinate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in succinate metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in succinate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of synaptic transmission, GABAergic IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
succinate-semialdehyde dehydrogenase, mitochondrial
Names
NAD(+)-dependent succinic semialdehyde dehydrogenase
aldehyde dehydrogenase 1, mitochondrial
aldehyde dehydrogenase family 5 member A1
aldehyde dehydrogenase family 5, subfamily A1
NP_766120.1
XP_036013867.1
XP_036013868.1

NCBI Reference Sequences (RefSeq)

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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)

  1. NM_172532.3NP_766120.1  succinate-semialdehyde dehydrogenase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_766120.1

    Status: VALIDATED

    Source sequence(s)
    AK052703, AK144030, AK164287, CB723582
    Consensus CDS
    CCDS26383.1
    UniProtKB/Swiss-Prot
    Q5SZW1, Q8BWF0
    UniProtKB/TrEMBL
    B2RS41
    Related
    ENSMUSP00000040591.7, ENSMUST00000037615.7
    Conserved Domains (1) summary
    TIGR01780
    Location:66516
    SSADH; succinate-semialdehyde dehydrogenase

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

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    25091562..25121740 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036157974.1XP_036013867.1  succinate-semialdehyde dehydrogenase, mitochondrial isoform X1

    Conserved Domains (1) summary
    cd07103
    Location:48461
    ALDH_F5_SSADH_GabD; Mitochondrial succinate-semialdehyde dehydrogenase and ALDH family members 5A1 and 5F1-like
  2. XM_036157975.1XP_036013868.1  succinate-semialdehyde dehydrogenase, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl11961
    Location:66455
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily