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ALDH5A1 aldehyde dehydrogenase 5 family, member A1 [ Homo sapiens (human) ]

Gene ID: 7915, updated on 12-May-2015
Official Symbol
ALDH5A1provided by HGNC
Official Full Name
aldehyde dehydrogenase 5 family, member A1provided by HGNC
Primary source
HGNC:HGNC:408
See related
Ensembl:ENSG00000112294; HPRD:08361; MIM:610045; Vega:OTTHUMG00000014356
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SSDH; SSADH
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]
Orthologs
See ALDH5A1 in MapViewer
Location:
6p22
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (24494969..24537207)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24495197..24537435)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene doublecortin domain containing 2 Neighboring gene kidney associated antigen 1 Neighboring gene MRS2 magnesium transporter Neighboring gene glycosylphosphatidylinositol specific phospholipase D1 Neighboring gene KIAA0319 Neighboring gene keratin 8 pseudogene 43 Neighboring gene tyrosyl-DNA phosphodiesterase 2

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aldehyde dehydrogenase (NAD) activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein homodimerization activity IC
Inferred by Curator
more info
PubMed 
succinate-semialdehyde dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
PubMed 
succinate-semialdehyde dehydrogenase (NAD+) activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
succinate-semialdehyde dehydrogenase [NAD(P)+] activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
acetate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
central nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
galactosylceramide metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
gamma-aminobutyric acid catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
gamma-aminobutyric acid catabolic process IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucose metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
glucosylceramide metabolic process IEA
Inferred from Electronic Annotation
more info
 
glutamate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
glutamine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
glutathione metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
glycerophospholipid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
neurotransmitter catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
neurotransmitter secretion TAS
Traceable Author Statement
more info
 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
respiratory electron transport chain ISS
Inferred from Sequence or Structural Similarity
more info
 
short-chain fatty acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
succinate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
succinate-semialdehyde dehydrogenase, mitochondrial
Names
succinate-semialdehyde dehydrogenase, mitochondrial
NAD(+)-dependent succinic semialdehyde dehydrogenase
aldehyde dehydrogenase 5 family member A1
mitochondrial succinate semialdehyde dehydrogenase
NP_001071.1
NP_733936.1

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.

Genomic

  1. NG_008161.1 RefSeqGene

    Range
    5001..47239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080.3NP_001071.1  succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001071.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (2), that is missing an internal segment compared to isoform 1.
    Source sequence(s)
    AJ427355, BC034321
    Consensus CDS
    CCDS4555.1
    UniProtKB/Swiss-Prot
    P51649
    UniProtKB/TrEMBL
    X5DQN2
    Related
    ENSP00000350191, OTTHUMP00000016088, ENST00000357578, OTTHUMT00000040007
    Conserved Domains (1) summary
    cd07103
    Location:78531
    ALDH_F5_SSADH_GabD; Mitochondrial succinate-semialdehyde dehydrogenase and ALDH family members 5A1 and 5F1-like
  2. NM_170740.1NP_733936.1  succinate-semialdehyde dehydrogenase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_733936.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (1).
    Source sequence(s)
    AJ427354, AJ427355, BC034321
    Consensus CDS
    CCDS4556.1
    UniProtKB/Swiss-Prot
    P51649
    UniProtKB/TrEMBL
    X5D299
    Conserved Domains (1) summary
    cd07103
    Location:78544
    ALDH_F5_SSADH_GabD; Mitochondrial succinate-semialdehyde dehydrogenase and ALDH family members 5A1 and 5F1-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    24494969..24537207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    24499400..24541589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)