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Tbio
ALDH18A1
Delta-1-pyrroline-5-carboxylate synthase

Protein Summary
Description
Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000371221
  • ENSP00000360265
  • ENSG00000059573
  • ENST00000371224
  • ENSP00000360268

Symbol
  • GSAS
  • P5CS
  • PYCS
  • GSAS
  • P5CS
  • PYCS
  • SPG9
  • ADCL3
  • SPG9A
  • SPG9B
  • ARCL3A
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
1
interacting protein
0.99
molecular function
0.98
transcription factor perturbation
0.97
kinase perturbation
0.96


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 349.49   (req: < 5)
Gene RIFs: 14   (req: <= 3)
Antibodies: 190   (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: 349.49   (req: >= 5)
Gene RIFs: 14   (req: > 3)
Antibodies: 190   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12
Tchem

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

Active Ligand: 0
Tclin

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

Active Drug: 0
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
blood metabolite measurement
1
1
1
40.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
blood metabolite measurement
1
40.2
Orthologs (16)
1 – 5 of 16
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
aldehyde dehydrogenase 18 family member A1
VGNC:3800
450629
Macaque
aldehyde dehydrogenase 18 family member A1
703357
Mouse
MGI:1888908
56454
Rat
RGD:1311431
361755
Dog
aldehyde dehydrogenase 18 family member A1
VGNC:37781
477781
Species
Name
OMA
EggNOG
Inparanoid
Chimp
aldehyde dehydrogenase 18 family member A1
Macaque
aldehyde dehydrogenase 18 family member A1
Mouse
Rat
Dog
aldehyde dehydrogenase 18 family member A1
Protein Structure (1 Structure, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P54886-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (16)
Glutamate and glutamine metabolism (R-HSA-8964539)

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

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Glutamate and glutamine metabolism
Reactome
Metabolism
Reactome
Metabolism of amino acids and derivatives
Name
Explore in Pharos
Explore in Source
Glutamate and glutamine metabolism
Metabolism
Metabolism of amino acids and derivatives
Gene Ontology Terms (15)
Items per page:
10
1 – 6 of 6
GO Term
Evidence
Assigned by
Inferred from Experiment (EXP)
Reactome
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from High Throughput Direct Assay (HDA)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (520)
1 – 10 of 520
RALB
Tbio
Family: Enzyme
Novelty: 0.01605746
p_int: 0.998420883
p_ni: 0.001579117
Score: 0.546
Data Source: BioPlex,STRINGDB
OAT
Tchem
Family: Enzyme
Novelty: 0.00125611
Score: 0.997
Data Source: STRINGDB
ALDH4A1
Tbio
Family: Enzyme
Novelty: 0.01316227
Score: 0.99
Data Source: STRINGDB
PYCR1
Tbio
Family: Enzyme
Novelty: 0.00220832
Score: 0.973
Data Source: STRINGDB
GLUD2
Tbio
Family: Enzyme
Novelty: 0.01470266
Score: 0.958
Data Source: STRINGDB
GLUD1
Tbio
Family: Enzyme
Novelty: 0.00301109
Score: 0.957
Data Source: STRINGDB
GLUL
Tchem
Family: Enzyme
Novelty: 0.00086054
Score: 0.956
Data Source: STRINGDB
PYCR2
Tbio
Family: Enzyme
Novelty: 0.05660996
Score: 0.951
Data Source: STRINGDB
PRODH
Tbio
Family: Enzyme
Novelty: 0.00315806
Score: 0.933
Data Source: STRINGDB
PYCR3
Tbio
Family: Enzyme
Novelty: 0.1041757
Score: 0.933
Data Source: STRINGDB
Publication Statistics
PubMed Score  349.49

PubMed score by year
PubTator Score  48.62

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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