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Tclin
ALDH5A1
Succinate-semialdehyde dehydrogenase, mitochondrial

Protein Summary
Description
Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000348925
  • ENSP00000314649
  • ENSG00000112294
  • ENST00000357578
  • ENSP00000350191

Symbol
  • SSADH
  • SSDH
  • SSADH
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
0.92
transcription factor perturbation
0.88
histone modification site profile
0.87
kinase perturbation
0.81
biological process
0.78


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 217.56   (req: < 5)
Gene RIFs: 27   (req: <= 3)
Antibodies: 410   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 217.56   (req: >= 5)
Gene RIFs: 27   (req: > 3)
Antibodies: 410   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 19
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 1
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1
Approved Drugs (1)
1 – 1 of 1
valproic acid
chemical structure image
Active Ligands (1)
1 – 1 of 1
CHEMBL378577
chemical structure image
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
alkaline phosphatase measurement
1
1
1
66.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
alkaline phosphatase measurement
1
66.1
Protein Data Bank (5)
1 – 5 of 5
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (14)
Degradation of GABA (R-HSA-916853)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 5
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Degradation of GABA
Reactome
GABA synthesis, release, reuptake and degradation
Reactome
Neuronal System
Reactome
Neurotransmitter release cycle
Reactome
Transmission across Chemical Synapses
Name
Explore in Pharos
Explore in Source
Degradation of GABA
GABA synthesis, release, reuptake and degradation
Neuronal System
Neurotransmitter release cycle
Transmission across Chemical Synapses
Protein-Protein Interactions (110)
1 – 10 of 110
FGL1
Tbio
Novelty: 0.02650803
p_int: 0.999994714
p_ni: 0.000005286
Score: 0.252
Data Source: BioPlex,STRINGDB
AHI1
Tbio
Novelty: 0.01180688
p_int: 0.999935946
p_ni: 0.000064054
Data Source: BioPlex
METAP2
Tchem
Family: Enzyme
Novelty: 0.00570955
p_int: 0.999013531
p_ni: 0.000986469
Data Source: BioPlex
MSRB2
Tbio
Family: Enzyme
Novelty: 0.00729088
p_int: 0.989109217
p_ni: 0.010890783
Data Source: BioPlex
OXLD1
Tdark
Family: Enzyme
Novelty: 23
p_int: 0.98204633
p_ni: 0.01795367
Score: 0.187
Data Source: BioPlex,STRINGDB
GLMP
Tdark
Novelty: 0.10163099
p_int: 0.834618813
p_ni: 0.165381173
p_wrong: 1.4e-8
Data Source: BioPlex
GATC
Tbio
Family: Enzyme
Novelty: 0.62484697
p_int: 0.826756491
p_ni: 0.173243499
p_wrong: 1.1e-8
Score: 0.188
Data Source: BioPlex,STRINGDB
MRPL50
Tdark
Novelty: 0.88879319
p_int: 0.811397241
p_ni: 0.18860275
p_wrong: 9e-9
Data Source: BioPlex
ABAT
Tclin
Family: Enzyme
Novelty: 0.0078359
Score: 0.997
Data Source: STRINGDB
OGDH
Tbio
Family: Enzyme
Novelty: 0.00674601
Score: 0.915
Data Source: STRINGDB
Publication Statistics
PubMed Score  217.56

PubMed score by year
PubTator Score  130.79

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
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