InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALDH5A1

Summary

InnateDB Protein

IDBP-65290.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ALDH5A1

Protein Name

aldehyde dehydrogenase 5 family, member A1

Synonyms

SSADH; SSDH;

Species

Homo sapiens

Ensembl Protein

ENSP00000350191

InnateDB Gene

IDBG-65286 (ALDH5A1)

Protein Structure

UniProt Annotation

Function

Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). {ECO:0000269PubMed:19300440}.

Subcellular Localization

Mitochondrion.

Disease Associations

Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]: A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances. {ECO:0000269PubMed:11243727, ECO:0000269PubMed:11901270, ECO:0000269PubMed:14635103}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	7 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

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
GO:0042803	protein homodimerization 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:0006681	galactosylceramide metabolic process
GO:0006749	glutathione metabolic process
GO:0007268	synaptic transmission
GO:0007269	neurotransmitter secretion
GO:0007417	central nervous system development
GO:0008152	metabolic process
GO:0009450	gamma-aminobutyric acid catabolic process
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