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Aliases for ALDH5A1 Gene

Aliases for ALDH5A1 Gene

  • Aldehyde Dehydrogenase 5 Family, Member A1 2 3
  • SSADH 3 4 6
  • NAD(+)-Dependent Succinic Semialdehyde Dehydrogenase 3 4
  • EC 1.2.1.24 4 64
  • Succinate-Semialdehyde Dehydrogenase, Mitochondrial 3
  • Mitochondrial Succinate Semialdehyde Dehydrogenase 3
  • Aldehyde Dehydrogenase 5 Family Member A1 3
  • Aldehyde Dehydrogenase Family 5 Member A1 4
  • Succinate-Semialdehyde Dehydrogenase 2
  • EC 1.2.1 64
  • SSDH 3

External Ids for ALDH5A1 Gene

Summaries for ALDH5A1 Gene

Entrez Gene Summary for ALDH5A1 Gene

  • 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]

GeneCards Summary for ALDH5A1 Gene

ALDH5A1 (Aldehyde Dehydrogenase 5 Family, Member A1) is a Protein Coding gene. Diseases associated with ALDH5A1 include succinic semialdehyde dehydrogenase deficiency and juvenile absence epilepsy. Among its related pathways are Metabolism and Transmission across Chemical Synapses. GO annotations related to this gene include protein homodimerization activity and succinate-semialdehyde dehydrogenase [NAD(P)+] activity.

UniProtKB/Swiss-Prot for ALDH5A1 Gene

  • Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).

Gene Wiki entry for ALDH5A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH5A1 Gene

Genomics for ALDH5A1 Gene

Genomic Location for ALDH5A1 Gene

Start:
24,494,852 bp from pter
End:
24,537,207 bp from pter
Size:
42,356 bases
Orientation:
Plus strand

Genomic View for ALDH5A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDH5A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH5A1 Gene

Regulatory Elements for ALDH5A1 Gene

Proteins for ALDH5A1 Gene

  • Protein details for ALDH5A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51649-SSDH_HUMAN
    Recommended name:
    Succinate-semialdehyde dehydrogenase, mitochondrial
    Protein Accession:
    P51649
    Secondary Accessions:
    • B2RD26
    • G5E949
    • Q546H9
    • Q8N3W6

    Protein attributes for ALDH5A1 Gene

    Size:
    535 amino acids
    Molecular mass:
    57215 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for ALDH5A1 Gene

    Alternative splice isoforms for ALDH5A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH5A1 Gene

Proteomics data for ALDH5A1 Gene at MOPED

Post-translational modifications for ALDH5A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH5A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ALDH5A1 Gene

Gene Families for ALDH5A1 Gene

HGNC:
  • ALDH :Aldehyde dehydrogenases

UniProtKB/Swiss-Prot:

SSDH_HUMAN
Family:
  • Belongs to the aldehyde dehydrogenase family.:
    • P51649
genes like me logo Genes that share domains with ALDH5A1: view

Function for ALDH5A1 Gene

Molecular function for ALDH5A1 Gene

GENATLAS Biochemistry: NAD+ dependent succinic semialdehyde dehydrogenase,involved in the biosynthesis of gammahydroxybutyrate and in the detoxification of xenobiotic carbonyl compounds
UniProtKB/Swiss-Prot CatalyticActivity: Succinate semialdehyde + NAD(+) + H(2)O = succinate + NADH
UniProtKB/Swiss-Prot EnzymeRegulation: Redox-regulated. Inhibited under oxydizing conditions. Inhibited by hydrogen peroxide H(2)O(2).
UniProtKB/Swiss-Prot Function: Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).

Enzyme Numbers (IUBMB) for ALDH5A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004029 aldehyde dehydrogenase (NAD) activity IBA --
GO:0004777 succinate-semialdehyde dehydrogenase (NAD+) activity ISS 7814412
GO:0009013 succinate-semialdehyde dehydrogenase [NAD(P)+] activity IBA --
GO:0016491 oxidoreductase activity --
GO:0042803 protein homodimerization activity IC 16199352
genes like me logo Genes that share ontologies with ALDH5A1: view
genes like me logo Genes that share phenotypes with ALDH5A1: view

Animal Models for ALDH5A1 Gene

MGI Knock Outs for ALDH5A1:

miRNA for ALDH5A1 Gene

No data available for Transcription Factor Targeting and HOMER Transcription for ALDH5A1 Gene

Localization for ALDH5A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH5A1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALDH5A1 Gene COMPARTMENTS Subcellular localization image for ALDH5A1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
peroxisome 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ALDH5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ALDH5A1: view

Pathways for ALDH5A1 Gene

genes like me logo Genes that share pathways with ALDH5A1: view

UniProtKB/Swiss-Prot P51649-SSDH_HUMAN

  • Pathway: Amino-acid degradation; 4-aminobutanoate degradation

Interacting Proteins for ALDH5A1 Gene

Gene Ontology (GO) - Biological Process for ALDH5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006006 glucose metabolic process ISS --
GO:0006083 acetate metabolic process ISS --
GO:0006105 succinate metabolic process ISS --
GO:0006536 glutamate metabolic process ISS --
GO:0006541 glutamine metabolic process ISS --
genes like me logo Genes that share ontologies with ALDH5A1: view

Compounds for ALDH5A1 Gene

(5) HMDB Compounds for ALDH5A1 Gene

Compound Synonyms Cas Number PubMed IDs
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
Succinic acid
  • 1,2-Ethanedicarboxylate
110-15-6
Succinic acid semialdehyde
  • 2-formylpropionic acid ethyl ester
692-29-5
Water
  • Dihydrogen oxide
7732-18-5

(4) Drugbank Compounds for ALDH5A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Chlormerodrin
62-37-3 target inhibitor
NADH
  • beta-DPNH
606-68-8 target
Succinic acid
  • 1,2-Ethanedicarboxylic acid
110-15-6 target inhibitor
Valproic Acid
  • 2-Propylpentanoic Acid
99-66-1 target inhibitor

(14) Novoseek inferred chemical compound relationships for ALDH5A1 Gene

Compound -log(P) Hits PubMed IDs
succinic semialdehyde 99 76
gamma-hydroxybutyrate 90.7 31
gaba 80.1 55
vigabatrin 73.6 4
succinate 63.9 10
genes like me logo Genes that share compounds with ALDH5A1: view

Transcripts for ALDH5A1 Gene

Unigene Clusters for ALDH5A1 Gene

Aldehyde dehydrogenase 5 family, member A1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH5A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: -
SP2: - -
SP3:

Relevant External Links for ALDH5A1 Gene

GeneLoc Exon Structure for
ALDH5A1
ECgene alternative splicing isoforms for
ALDH5A1

Expression for ALDH5A1 Gene

mRNA expression in normal human tissues for ALDH5A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALDH5A1 Gene

SOURCE GeneReport for Unigene cluster for ALDH5A1 Gene Hs.371723

mRNA Expression by UniProt/SwissProt for ALDH5A1 Gene

P51649-SSDH_HUMAN
Tissue specificity: Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta
genes like me logo Genes that share expressions with ALDH5A1: view

Orthologs for ALDH5A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH5A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDH5A1 36
  • 99.56 (n)
  • 99.62 (a)
ALDH5A1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH5A1 36
  • 86.12 (n)
  • 85.93 (a)
ALDH5A1 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH5A1 36
  • 87.87 (n)
  • 91.34 (a)
ALDH5A1 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh5a1 36
  • 81.96 (n)
  • 86.23 (a)
Aldh5a1 16
Aldh5a1 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDH5A1 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh5a1 36
  • 81.96 (n)
  • 86.04 (a)
chicken
(Gallus gallus)
Aves ALDH5A1 36
  • 72.58 (n)
  • 78.43 (a)
ALDH5A1 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDH5A1 37
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh5a1 36
  • 70.8 (n)
  • 77.89 (a)
zebrafish
(Danio rerio)
Actinopterygii aldh5a1 36
  • 67.68 (n)
  • 70.74 (a)
aldh5a1 37
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003165 36
  • 56.6 (n)
  • 54.17 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ssadh 36
  • 54.8 (n)
  • 52.8 (a)
Ssadh 37
  • 50 (a)
OneToOne
CG4685 38
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea alh-7 36
  • 53.77 (n)
  • 50 (a)
alh-7 37
  • 48 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER007W 36
  • 52.73 (n)
  • 47.48 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UGA2 36
  • 53.57 (n)
  • 48.74 (a)
UGA2 37
  • 46 (a)
OneToOne
UGA2 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17491g 36
  • 54.14 (n)
  • 50.31 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3967 36
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH5F1 36
  • 58.63 (n)
  • 59.54 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.5500 36
rice
(Oryza sativa)
Liliopsida Os.9838 36
wheat
(Triticum aestivum)
Liliopsida Ta.5774 36
bread mold
(Neurospora crassa)
Ascomycetes NCU00936 36
  • 57.53 (n)
  • 57.11 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1002.12c 36
  • 56.52 (n)
  • 52.13 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6288 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 65 (a)
OneToMany
-- 37
  • 56 (a)
OneToMany
Species with no ortholog for ALDH5A1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ALDH5A1 Gene

ENSEMBL:
Gene Tree for ALDH5A1 (if available)
TreeFam:
Gene Tree for ALDH5A1 (if available)

Paralogs for ALDH5A1 Gene

Selected SIMAP similar genes for ALDH5A1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ALDH5A1: view

No data available for Paralogs for ALDH5A1 Gene

Variants for ALDH5A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH5A1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs807512 -- 24,516,742(+) acaac(A/C)tggtg intron-variant
rs807513 -- 24,518,093(+) GGGCT(A/G)GGTCA intron-variant
rs807514 -- 24,518,588(+) AAAGT(G/T)TAAAT intron-variant
rs807515 -- 24,519,658(+) TAAAG(G/T)GTTAT intron-variant
rs807516 -- 24,523,489(+) GTCAT(A/G)AGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH5A1 Gene

Variant ID Type Subtype PubMed ID
nsv519552 CNV Gain 19592680
nsv883480 CNV Loss 21882294
esv34020 CNV Loss 18971310
esv2648573 CNV Deletion 19546169

Relevant External Links for ALDH5A1 Gene

HapMap Linkage Disequilibrium report
ALDH5A1
Human Gene Mutation Database (HGMD)
ALDH5A1
Locus Specific Mutation Databases (LSDB)
ALDH5A1

Disorders for ALDH5A1 Gene

(1) OMIM Diseases for ALDH5A1 Gene (610045)

UniProtKB/Swiss-Prot

SSDH_HUMAN
  • 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:0000269 PubMed:11243727, ECO:0000269 PubMed:11901270, ECO:0000269 PubMed:14635103}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ALDH5A1 Gene

(9) Novoseek inferred disease relationships for ALDH5A1 Gene

Disease -log(P) Hits PubMed IDs
language delay 70.2 2
absence seizures 57.7 3
developmental delay 57.1 2
epilepsy, idiopathic generalized 49.6 3
epilepsy 44.7 8

Genatlas disease for ALDH5A1 Gene

4-hydroxybutyric aciduria characterized by psychomotor retardation,ataxia,hypotonia

Relevant External Links for ALDH5A1

GeneTests
ALDH5A1
GeneReviews
ALDH5A1
Genetic Association Database (GAD)
ALDH5A1
Human Genome Epidemiology (HuGE) Navigator
ALDH5A1
genes like me logo Genes that share disorders with ALDH5A1: view

Publications for ALDH5A1 Gene

  1. Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression. (PMID: 7814412) Chambliss K.L. … Gibson K.M. (J. Biol. Chem. 1995) 2 3 4 23
  2. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). (PMID: 9683595) Chambliss K.L. … Gibson K.M. (Am. J. Hum. Genet. 1998) 3 4 23
  3. Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T>A of the ALDH5A1 gene. (PMID: 11901270) Aoshima T. … Niwa T. (Hum. Hered. 2002) 3 4 23
  4. Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. (PMID: 12208142) Blasi P. … Malaspina P. (Mol. Genet. Metab. 2002) 3 4 23
  5. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. (PMID: 14635103) Akaboshi S. … Gibson K.M. (Hum. Mutat. 2003) 3 4 23

Products for ALDH5A1 Gene

Sources for ALDH5A1 Gene

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