About   Help   FAQ
Aldh18a1
Gene Detail
 Symbol
Name
ID
Aldh18a1
aldehyde dehydrogenase 18 family, member A1
MGI:1888908
Synonyms 2810433K04Rik, Pycs
Feature Type protein coding gene
Genetic Map
Chromosome 19
34.25 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr19:40550257-40588463 bp, - strand
From VEGA annotation of GRCm38

  38207 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2142  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Protein SuperFamily: Delta-1-pyrroline-5-carboxylate synthetase
Gene Tree: Aldh18a1

Human
homologs
Human Homolog ALDH18A1, aldehyde dehydrogenase 18 family, member A1
NCBI Gene ID 5832
neXtProt AC  NX_P54886
Human Synonyms  ARCL3A, GSAS, P5CS, PYCS
Human Chr (Location)  10q24.3; chr10:95605929-95656810 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ALDH18A1
Alleles
and
phenotypes
All alleles(5) : Gene trapped(3) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process cellular amino acid biosynthetic process, citrulline biosynthetic process, ...
Component cytoplasm, membrane, ...
Function ATP binding, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (94)    Tissues (94)    Images (13)
Theiler Stages: 22
Assay TypeResults
RNA in situ 94
cDNA source data(121)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(121) cDNA(121)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000026289 (Evidence)
Ensembl Gene ModelENSMUSG00000025007 (Evidence)
Entrez Gene56454 (Evidence)
UniGene233117
DFCITC1573319, TC1753541
DoTSDT.101158724, DT.101404892, DT.110881252, DT.492481, DT.94359705, DT.94359741, DT.97335689, DT.97376280, DT.99864806
NIA Mouse Gene IndexU039021
EC1.2.1.41, 2.7.2.11
Consensus CDS ProjectCCDS29803.1, CCDS57144.1
International Mouse Knockout Project StatusAldh18a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026289 VEGA Gene Model | MGI Sequence Detail 38207 C57BL/6J ±  kb
transcript OTTMUST00000065028 VEGA | MGI Sequence Detail 3527 Not Applicable 
polypeptide OTTMUSP00000032356 VEGA | MGI Sequence Detail 795 Not Applicable 

For the selected sequences
All sequences(113) RefSeq(8) UniProt(8)
Polymorphisms SNPs within 2kb(330 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016163 Aldehyde dehydrogenase, C-terminal
InterPro IPR015590 Aldehyde dehydrogenase domain
InterPro IPR016162 Aldehyde dehydrogenase, N-terminal
InterPro IPR016161 Aldehyde/histidinol dehydrogenase
InterPro IPR001048 Aspartate/glutamate/uridylate kinase
InterPro IPR005766 Delta l-pyrroline-5-carboxylate synthetase
InterPro IPR000965 Gamma-glutamyl phosphate reductase GPR
InterPro IPR020593 Gamma-glutamyl phosphate reductase GPR, conserved site
InterPro IPR019797 Glutamate 5-kinase, conserved site
InterPro IPR005715 Glutamate 5-kinase/delta-1-pyrroline-5-carboxylate synthase
InterPro IPR001057 Glutamate/acetylglutamate kinase
Protein Ontology PR:000003919 delta-1-pyrroline-5-carboxylate synthase
References (Earliest) J:62501 Hu CA, et al., Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition. J Biol Chem. 1999 Mar 5;274(10):6754-62
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(39)
Other
accession IDs
MGI:1917219, MGI:2147532

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/15/2014
MGI 5.18
The Jackson Laboratory