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Aliases for ALDH18A1 Gene

Aliases for ALDH18A1 Gene

  • Aldehyde Dehydrogenase 18 Family, Member A1 2 3
  • GSAS 3 4 6
  • PYCS 3 4 6
  • Pyrroline-5-Carboxylate Synthetase (Glutamate Gamma-Semialdehyde Synthetase) 2 3
  • Aldehyde Dehydrogenase Family 18 Member A1 3 4
  • ARCL3A 3 6
  • P5CS 3 4
  • Delta-1-Pyrroline-5-Carboxylate Synthetase 3
  • Delta-1-Pyrroline-5-Carboxylate Synthase 3
  • Delta1-Pyrroline-5-Carboxlate Synthetase 3
  • EC 63
  • EC 63
  • EC 63

External Ids for ALDH18A1 Gene

Previous HGNC Symbols for ALDH18A1 Gene

  • GSAS
  • PYCS

Previous GeneCards Identifiers for ALDH18A1 Gene

  • GC10M097355
  • GC10M090993

Summaries for ALDH18A1 Gene

Entrez Gene Summary for ALDH18A1 Gene

  • 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]

GeneCards Summary for ALDH18A1 Gene

ALDH18A1 (Aldehyde Dehydrogenase 18 Family, Member A1) is a Protein Coding gene. Diseases associated with ALDH18A1 include cutis laxa, autosomal recessive, type iiia and aldh18a1-related cutis laxa. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include glutamate 5-kinase activity and glutamate-5-semialdehyde dehydrogenase activity.

UniProtKB/Swiss-Prot for ALDH18A1 Gene

  • Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.

Gene Wiki entry for ALDH18A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH18A1 Gene

Genomics for ALDH18A1 Gene

Regulatory Elements for ALDH18A1 Gene

Genomic Location for ALDH18A1 Gene

95,605,929 bp from pter
95,656,810 bp from pter
50,882 bases
Minus strand

Genomic View for ALDH18A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDH18A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH18A1 Gene

Proteins for ALDH18A1 Gene

  • Protein details for ALDH18A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Delta-1-pyrroline-5-carboxylate synthase
    Protein Accession:
    Secondary Accessions:
    • B2R5Q4
    • B7Z350
    • B7Z5X8
    • B7ZLP1
    • D3DR44
    • O95952
    • Q3KQU2
    • Q5T566
    • Q5T567
    • Q9UM72

    Protein attributes for ALDH18A1 Gene

    795 amino acids
    Molecular mass:
    87302 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAH12086.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAH13064.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALDH18A1 Gene

    Alternative splice isoforms for ALDH18A1 Gene


neXtProt entry for ALDH18A1 Gene

Proteomics data for ALDH18A1 Gene at MOPED

Selected DME Specific Peptides for ALDH18A1 Gene

Post-translational modifications for ALDH18A1 Gene

  • Ubiquitination at Lys662 and Lys761
  • Modification sites at PhosphoSitePlus

Other Protein References for ALDH18A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for ALDH18A1 Gene

Gene Families for ALDH18A1 Gene

  • ALDH :Aldehyde dehydrogenases

Suggested Antigen Peptide Sequences for ALDH18A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • P54886
  • In the N-terminal section; belongs to the glutamate 5-kinase family.
  • In the C-terminal section; belongs to the gamma-glutamyl phosphate reductase family.
genes like me logo Genes that share domains with ALDH18A1: view

Function for ALDH18A1 Gene

Molecular function for ALDH18A1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + L-glutamate = ADP + L-glutamate 5-phosphate
UniProtKB/Swiss-Prot CatalyticActivity: L-glutamate 5-semialdehyde + phosphate + NADP(+) = L-glutamyl 5-phosphate + NADPH
UniProtKB/Swiss-Prot EnzymeRegulation: Isoform Short is inhibited by L-ornithine with a Ki of approximately 0.25 mm. Isoform Long is insensitive to ornithine inhibition. This is due to the two amino acid insert which abolishes feedback inhibition of P5CS activity by L-ornithine.
UniProtKB/Swiss-Prot Function: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.

Enzyme Numbers (IUBMB) for ALDH18A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004349 glutamate 5-kinase activity IDA 11092761
GO:0004350 glutamate-5-semialdehyde dehydrogenase activity IDA 11092761
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ALDH18A1: view
genes like me logo Genes that share phenotypes with ALDH18A1: view

miRNA for ALDH18A1 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for ALDH18A1 Gene

Localization for ALDH18A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH18A1 Gene

Mitochondrion inner membrane.

Subcellular locations from

Jensen Localization Image for ALDH18A1 Gene COMPARTMENTS Subcellular localization image for ALDH18A1 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for ALDH18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
genes like me logo Genes that share ontologies with ALDH18A1: view

Pathways for ALDH18A1 Gene

genes like me logo Genes that share pathways with ALDH18A1: view

UniProtKB/Swiss-Prot P54886-P5CS_HUMAN

  • Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 1/2
  • Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 2/2

Gene Ontology (GO) - Biological Process for ALDH18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006536 glutamate metabolic process IMP 11092761
GO:0006561 proline biosynthetic process IMP 11092761
GO:0006592 ornithine biosynthetic process IMP 11092761
GO:0008152 metabolic process --
GO:0008652 cellular amino acid biosynthetic process TAS --
genes like me logo Genes that share ontologies with ALDH18A1: view

Compounds for ALDH18A1 Gene

(10) HMDB Compounds for ALDH18A1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
  • adenosindiphosphorsaeure
  • Amfamox
L-Glutamic acid
  • (2S)-2-Aminopentanedioate
L-Glutamic acid 5-phosphate
  • L-Glutamic acid 5-phosphate

(1) Drugbank Compounds for ALDH18A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target

(9) Novoseek inferred chemical compound relationships for ALDH18A1 Gene

Compound -log(P) Hits PubMed IDs
delta(1)pyrroline-5-carboxylate 97.7 20
gamma-glutamyl phosphate 95.3 4
proline 78.8 24
ornithine 67.7 8
citrulline 59.5 1
genes like me logo Genes that share compounds with ALDH18A1: view

Transcripts for ALDH18A1 Gene

Unigene Clusters for ALDH18A1 Gene

Aldehyde dehydrogenase 18 family, member A1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH18A1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^
SP1: - - -
SP2: - -
SP5: - - - -
SP6: - -

ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b
SP1: -
SP2: -

Relevant External Links for ALDH18A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALDH18A1 Gene

mRNA expression in normal human tissues for ALDH18A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALDH18A1 Gene

SOURCE GeneReport for Unigene cluster for ALDH18A1 Gene Hs.500645

genes like me logo Genes that share expressions with ALDH18A1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ALDH18A1 Gene

Orthologs for ALDH18A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH18A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ALDH18A1 35
  • 99.45 (n)
  • 99.62 (a)
ALDH18A1 36
  • 100 (a)
(Bos Taurus)
Mammalia ALDH18A1 35
  • 91.15 (n)
  • 97.11 (a)
ALDH18A1 36
  • 97 (a)
(Canis familiaris)
Mammalia ALDH18A1 35
  • 91.66 (n)
  • 97.11 (a)
ALDH18A1 36
  • 97 (a)
(Mus musculus)
Mammalia Aldh18a1 35
  • 87.89 (n)
  • 95.71 (a)
Aldh18a1 16
Aldh18a1 36
  • 95 (a)
(Monodelphis domestica)
Mammalia ALDH18A1 36
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
-- 36
  • 94 (a)
(Rattus norvegicus)
Mammalia Aldh18a1 35
  • 87.77 (n)
  • 95.46 (a)
(Gallus gallus)
Aves ALDH18A1 35
  • 80.6 (n)
  • 93.25 (a)
ALDH18A1 36
  • 89 (a)
(Anolis carolinensis)
Reptilia ALDH18A1 36
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh18a1 35
  • 78.09 (n)
  • 90.84 (a)
Str.6782 35
(Danio rerio)
Actinopterygii aldh18a1 35
  • 74.67 (n)
  • 86.64 (a)
aldh18a1 36
  • 82 (a)
pycs 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002518 35
  • 56.64 (n)
  • 58.21 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7470 35
  • 59.41 (n)
  • 59.59 (a)
CG7470 36
  • 56 (a)
(Caenorhabditis elegans)
Secernentea alh-13 35
  • 56.53 (n)
  • 56.96 (a)
alh-13 36
  • 51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRO2 36
  • 40 (a)
PRO2 38
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.109 35
(Glycine max)
eudicotyledons Gma.5583 35
thale cress
(Arabidopsis thaliana)
eudicotyledons P5CS2 35
  • 52.58 (n)
  • 49.65 (a)
(Oryza sativa)
Liliopsida Os05g0455500 35
  • 52.97 (n)
  • 49.07 (a)
Species with no ortholog for ALDH18A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALDH18A1 Gene

Gene Tree for ALDH18A1 (if available)
Gene Tree for ALDH18A1 (if available)

Paralogs for ALDH18A1 Gene

No data available for Paralogs for ALDH18A1 Gene

Variants for ALDH18A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH18A1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs4037 -- 95,606,063(+) TTCAA(A/G)CATCA utr-variant-3-prime
rs8758 -- 95,606,350(-) ACATG(C/T)AGTCA utr-variant-3-prime
rs383212 -- 95,620,747(+) agatc(A/T)cttgg intron-variant
rs483920 -- 95,610,843(+) CTCCA(C/T)CATTG intron-variant
rs496426 -- 95,607,077(+) CCCAG(A/G)AGAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH18A1 Gene

Variant ID Type Subtype PubMed ID
nsv526180 CNV Gain 19592680

Relevant External Links for ALDH18A1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH18A1 Gene

Disorders for ALDH18A1 Gene

(1) OMIM Diseases for ALDH18A1 Gene (138250)


  • Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]: A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities. {ECO:0000269 PubMed:11092761, ECO:0000269 PubMed:18478038}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ALDH18A1 Gene

(5) Novoseek inferred disease relationships for ALDH18A1 Gene

Disease -log(P) Hits PubMed IDs
hyperammonemia 71.5 1
cataract subcapsular 67.4 1
mental retardation 46.4 1
cataract 45.5 3
neurodegeneration 38.7 3

Relevant External Links for ALDH18A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ALDH18A1: view

Publications for ALDH18A1 Gene

  1. Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis. (PMID: 8761662) Aral B. … Kamoun P. (C. R. Acad. Sci. III, Sci. Vie 1996) 3 4 23
  2. Assignment of the human gene encoding the delta 1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ hybridization. (PMID: 8921385) Liu G. … Aral B. (Genomics 1996) 2 3 23
  3. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5- carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. (PMID: 18478038) Bicknell L.S. … Robertson S.P. (Eur. J. Hum. Genet. 2008) 3 4 23
  4. Molecular enzymology of mammalian delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition. (PMID: 10037775) Hu C.A. … Valle D. (J. Biol. Chem. 1999) 3 4 23
  5. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. (PMID: 11092761) Baumgartner M.R. … Valle D. (Hum. Mol. Genet. 2000) 3 4 23

Products for ALDH18A1 Gene

Sources for ALDH18A1 Gene

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