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Aliases for ALDH18A1 Gene

Aliases for ALDH18A1 Gene

  • Aldehyde Dehydrogenase 18 Family Member A1 2 3 5
  • Pyrroline-5-Carboxylate Synthetase (Glutamate Gamma-Semialdehyde Synthetase) 2 3
  • Aldehyde Dehydrogenase 18 Family, Member A1 2 3
  • Aldehyde Dehydrogenase Family 18 Member A1 3 4
  • GSAS 3 4
  • PYCS 3 4
  • P5CS 3 4
  • Delta-1-Pyrroline-5-Carboxylate Synthetase 3
  • Delta1-Pyrroline-5-Carboxlate Synthetase 3
  • EC 2.1.2.11 63
  • EC 1.2.1.41 63
  • EC 2.3.3.13 63
  • ARCL3A 3
  • ADCL3 3
  • SPG9A 3
  • SPG9B 3

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 Spastic Paraplegia 9A, Autosomal Dominant. Among its related pathways are Amino acid synthesis and interconversion (transamination) and Urea cycle and metabolism of amino groups. GO annotations related to this gene include poly(A) RNA binding and NADP binding.

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

Enhancers for ALDH18A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ALDH18A1 on UCSC Golden Path with GeneCards custom track

Promoters for ALDH18A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ALDH18A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALDH18A1 Gene

Chromosome:
10
Start:
95,605,929 bp from pter
End:
95,656,810 bp from pter
Size:
50,882 bases
Orientation:
Minus strand

Genomic View for ALDH18A1 Gene

Genes around ALDH18A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH18A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P54886-P5CS_HUMAN
    Recommended name:
    Delta-1-pyrroline-5-carboxylate synthase
    Protein Accession:
    P54886
    Secondary Accessions:
    • B2R5Q4
    • B7Z350
    • B7Z5X8
    • B7ZLP1
    • D3DR44
    • O95952
    • Q3KQU2
    • Q5T566
    • Q5T567
    • Q9UM72

    Protein attributes for ALDH18A1 Gene

    Size:
    795 amino acids
    Molecular mass:
    87302 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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 Lys 662 and Lys 761
  • Modification sites at PhosphoSitePlus

Domains & Families for ALDH18A1 Gene

Gene Families for ALDH18A1 Gene

Suggested Antigen Peptide Sequences for ALDH18A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P54886

UniProtKB/Swiss-Prot:

P5CS_HUMAN :
  • In the N-terminal section; belongs to the glutamate 5-kinase family.
Family:
  • 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:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with ALDH18A1: view
genes like me logo Genes that share phenotypes with ALDH18A1: view

Human Phenotype Ontology for ALDH18A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALDH18A1 Gene

MGI Knock Outs for ALDH18A1:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targets 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

COMPARTMENTS
Jensen Localization Image for ALDH18A1 Gene COMPARTMENTS Subcellular localization image for ALDH18A1 gene
Compartment Confidence
mitochondrion 5
cytosol 4
chloroplast 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for ALDH18A1 Gene

Pathways & Interactions 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 IEA,IMP 11092761
GO:0006592 ornithine biosynthetic process IMP 11092761
GO:0034214 protein hexamerization IDA 26297558
GO:0055129 L-proline biosynthetic process IEA --
genes like me logo Genes that share ontologies with ALDH18A1: view

No data available for SIGNOR curated interactions for ALDH18A1 Gene

Drugs & Compounds for ALDH18A1 Gene

(8) Drugs for ALDH18A1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ornithine Approved Nutra Full agonist, Agonist 67
Famotidine Approved Pharma Histamine H2-receptor antagonist 57
Adenosine triphosphate Approved Nutra 0
L-Glutamic Acid Nutra Full agonist, Agonist, Target 0

(12) Additional Compounds for ALDH18A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
L-Glutamic acid 5-phosphate
  • L-gamma-Glutamyl-5-P
  • L-gamma-Glutamyl-5-phosphate
  • L-Glutamate 5-phosphate
  • L-Glutamate-5-phosphate
  • L-Glutamic acid 5-phosphate
13254-53-0
L-Glutamic gamma-semialdehyde
  • Glutamate-semialdehyde
  • Glutamic gamma-semialdehyde
  • L-Glutamate 5-semialdehyde
  • L-Glutamate-5-semialdehyde
  • L-Glutamate-gamma-semialdehyde
496-92-4
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
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: - -
SP3:
SP4:
SP5: - - - -
SP6: - -
SP7:
SP8:

ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ALDH18A1 Gene

GeneLoc Exon Structure for
ALDH18A1
ECgene alternative splicing isoforms for
ALDH18A1

Expression for ALDH18A1 Gene

mRNA expression in normal human tissues for ALDH18A1 Gene

Protein differential expression in normal tissues from HIPED for ALDH18A1 Gene

This gene is overexpressed in Salivary gland (17.7) and Nasal epithelium (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ALDH18A1: view

Protein tissue co-expression partners for ALDH18A1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
cow
(Bos Taurus)
Mammalia ALDH18A1 35
  • 91.15 (n)
  • 97.11 (a)
ALDH18A1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH18A1 35
  • 91.66 (n)
  • 97.11 (a)
ALDH18A1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh18a1 35
  • 87.89 (n)
  • 95.71 (a)
Aldh18a1 16
Aldh18a1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALDH18A1 35
  • 99.45 (n)
  • 99.62 (a)
ALDH18A1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh18a1 35
  • 87.77 (n)
  • 95.46 (a)
oppossum
(Monodelphis domestica)
Mammalia ALDH18A1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
OneToMany
-- 36
  • 94 (a)
OneToMany
chicken
(Gallus gallus)
Aves ALDH18A1 35
  • 80.6 (n)
  • 93.25 (a)
ALDH18A1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDH18A1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh18a1 35
  • 78.09 (n)
  • 90.84 (a)
Str.6782 35
zebrafish
(Danio rerio)
Actinopterygii aldh18a1 35
  • 74.67 (n)
  • 86.64 (a)
pycs 35
aldh18a1 36
  • 82 (a)
OneToOne
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)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea alh-13 35
  • 56.53 (n)
  • 56.96 (a)
alh-13 36
  • 51 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRO2 36
  • 40 (a)
OneToOne
PRO2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons P5CS2 35
  • 52.58 (n)
  • 49.65 (a)
soybean
(Glycine max)
eudicotyledons Gma.5583 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.109 35
rice
(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

ENSEMBL:
Gene Tree for ALDH18A1 (if available)
TreeFam:
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
VAR_038482 Cutis laxa, autosomal recessive, 3A (ARCL3A)
rs2275272 - 95,628,405(+) ACTTG(A/G)TTCCA reference, missense
rs3765571 - 95,626,740(+) CTCCA(G/T)ATCGC reference, missense
VAR_058006 Cutis laxa, autosomal recessive, 3A (ARCL3A)
rs4037 -- 95,606,063(+) TTCAA(A/G)CATCA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv526180 CNV Gain 19592680

Variation tolerance for ALDH18A1 Gene

Residual Variation Intolerance Score: 7.21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.78; 73.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALDH18A1 Gene

Human Gene Mutation Database (HGMD)
ALDH18A1

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

Disorders for ALDH18A1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for ALDH18A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cutis laxa, autosomal recessive, type iiia
  • de barsy syndrome
spastic paraplegia 9a, autosomal dominant
  • cataracts with motor neuronopathy, short stature, and skeletal abnormalities
spastic paraplegia 9b, autosomal recessive
  • spg9b
cutis laxa, autosomal dominant 3
  • cutis laxa, autosomal dominant, 3
aldh18a1-related de barsy syndrome
  • delta-1-pyrroline 5-carboxylate synthetase deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

P5CS_HUMAN
  • 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.

Relevant External Links for ALDH18A1

Genetic Association Database (GAD)
ALDH18A1
Human Genome Epidemiology (HuGE) Navigator
ALDH18A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALDH18A1
genes like me logo Genes that share disorders with ALDH18A1: view

No data available for Genatlas for ALDH18A1 Gene

Publications for ALDH18A1 Gene

  1. 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 67
  2. [A new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiency]. (PMID: 9622938) Kamoun P. … Saudubray J.M. (Bull. Acad. Natl. Med. 1998) 23 25 26
  3. 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
  4. Human Delta1-pyrroline-5-carboxylate synthase: function and regulation. (PMID: 18401542) Hu C.A. … Valle D. (Amino Acids 2008) 3 23
  5. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26

Products for ALDH18A1 Gene

Sources for ALDH18A1 Gene

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