InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ALDH5A1

Summary

InnateDB Gene

IDBG-65286.6

Last Modified

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

Gene Symbol

ALDH5A1

Gene Name

aldehyde dehydrogenase 5 family, member A1

Synonyms

SSADH; SSDH

Species

Homo sapiens

Ensembl Gene

ENSG00000112294

Encoded Proteins

IDBP-65288

aldehyde dehydrogenase 5 family, member A1

IDBP-65290

aldehyde dehydrogenase 5 family, member A1

IDBP-480277

aldehyde dehydrogenase 5 family, member A1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 6:24494852-24537207

Strand

Forward strand

Band

p22.3

Transcripts

ENST00000348925	ENSP00000314649
ENST00000357578	ENSP00000350191
ENST00000491546	ENSP00000417687
ENST00000479394
ENST00000492697

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:0006678	glucosylceramide 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: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
GO:0005759	mitochondrial matrix

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000035936

View Gene Order

ENSBTAG00000021902

Not yet available

Pathways

NETPATH

REACTOME

REACT_23964

Degradation of GABA pathway

REACT_23947

GABA synthesis, release, reuptake and degradation pathway

REACT_13685

Neuronal System pathway

REACT_13477

Transmission across Chemical Synapses pathway

REACT_13723

Neurotransmitter Release Cycle pathway

KEGG

hsa00650

Butanoate metabolism pathway

hsa00250

Alanine, aspartate and glutamate metabolism pathway

INOH

INOH website

Glutamate Glutamine metabolism pathway

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.592698 Hs.640460

RefSeq

NM_001080 NM_170740

HUGO

OMIM

CCDS

CCDS4555 CCDS4556

HPRD

08361

IMGT

EMBL

GenPept

RNA Seq Atlas