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; chr10:97365686-97416567 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ALDH18A1

Alleles and phenotypes

All alleles(5) : Targeted(2) Gene trapped(3)

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 Type	Results
RNA in situ	94

cDNA source data(14)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(14) cDNA(14)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000026289 (Evidence)
Ensembl Gene Model	ENSMUSG00000025007 (Evidence)
Entrez Gene	56454 (Evidence)
DFCI	TC1573319, TC1753541
DoTS	DT.101158724, DT.101404892, DT.110881252, DT.492481, DT.94359705, DT.94359741, DT.97335689, DT.97376280, DT.99864806
NIA Mouse Gene Index	U039021
EC	1.2.1.41, 2.7.2.11
Consensus CDS Project	CCDS29803.1, CCDS57144.1
International Mouse Knockout Project Status	Aldh18a1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000026289	VEGA Gene Model | MGI Sequence Detail	38207	C57BL/6J
transcript	OTTMUST00000065028	VEGA | MGI Sequence Detail	3527	Not Applicable
polypeptide	OTTMUSP00000032356	VEGA | MGI Sequence Detail	795	Not Applicable

All sequences(109) RefSeq(4) UniProt(8)

Polymorphisms

SNPs(154 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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 synthetase

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(38)

Other accession IDs

MGI:1917219, MGI:2147532