Mus musculus Gene: Aldh5a1
Summary
InnateDB Gene IDBG-139284.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Aldh5a1
Gene Name aldhehyde dehydrogenase family 5, subfamily A1
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000035936
Encoded Proteins
aldhehyde dehydrogenase family 5, subfamily A1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000112294:
This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 13:24907579-24937661
Strand Reverse strand
Band A3.1
Transcripts
ENSMUST00000037615 ENSMUSP00000040591
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004777 succinate-semialdehyde dehydrogenase (NAD+) activity
GO:0009013 succinate-semialdehyde dehydrogenase [NAD(P)+] activity
GO:0016491 oxidoreductase activity
Biological Process
GO:0006006 glucose metabolic process
GO:0006083 acetate metabolic process
GO:0006105 succinate metabolic process
GO:0006536 glutamate metabolic process
GO:0006541 glutamine metabolic process
GO:0006650 glycerophospholipid metabolic process
GO:0006678 glucosylceramide metabolic process
GO:0006681 galactosylceramide metabolic process
GO:0006749 glutathione metabolic process
GO:0007417 central nervous system development
GO:0008152 metabolic process
GO:0009448 gamma-aminobutyric acid metabolic process
GO:0009450 gamma-aminobutyric acid catabolic process
GO:0009791 post-embryonic development
GO:0022904 respiratory electron transport chain
GO:0042135 neurotransmitter catabolic process
GO:0046459 short-chain fatty acid metabolic process
GO:0051289 protein homotetramerization
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
GABA synthesis, release, reuptake and degradation pathway
Degradation of GABA pathway
Neurotransmitter Release Cycle pathway
Neuronal System pathway
Transmission across Chemical Synapses pathway
KEGG
Butanoate metabolism pathway
Alanine, aspartate and glutamate metabolism pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Degradation of GABA pathway
GABA synthesis, release, reuptake and degradation pathway
Neuronal System pathway
Transmission across Chemical Synapses pathway
Neurotransmitter Release Cycle pathway
KEGG
Butanoate metabolism pathway
Alanine, aspartate and glutamate metabolism pathway
INOH
Glutamate Glutamine metabolism pathway
PID NCI
Cross-References
SwissProt Q8BWF0
TrEMBL B2RS41
UniProt Splice Variant
Entrez Gene 214579
UniGene Mm.393311 Mm.401177
RefSeq NM_172532
OMIM
CCDS CCDS26383
HPRD
IMGT
MGI ID MGI:2441982
MGI Symbol Aldh5a1
EMBL AK052703 AK144030 AL589699 BC138703 CH466561
GenPept AAI38704 BAC35105 BAE25663 CAI26086 EDL32468
RNA Seq Atlas 214579