Gene

aldh18a1

ID
ZDB-GENE-030131-5602
Name
aldehyde dehydrogenase 18 family, member A1
Symbol
aldh18a1 Nomenclature History
Previous Names
  • cb842 (1)
  • cb899 (1)
  • pycs (1)
  • sb:cb881
  • wu:fa91f10
  • wu:fi05f11
  • wu:fi17d12
Type
protein_coding_gene
Location
Chr: 12 Mapping Details/Browsers
Description
Predicted to have glutamate-5-semialdehyde dehydrogenase activity. Predicted to be involved in L-proline biosynthetic process; oxidation-reduction process; and phosphorylation. Predicted to localize to mitochondrion. Is expressed in several structures, including central nervous system; endocrine system; eye; immature eye; and tail bud. Human ortholog(s) of this gene implicated in cataract; cutis laxa (multiple); enterocele; and hereditary spastic paraplegia (multiple). Orthologous to human ALDH18A1 (aldehyde dehydrogenase 18 family member A1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
31 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With aldh18a1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Cutis laxa, autosomal dominant 3 616603
Cutis laxa, autosomal recessive, type IIIA 219150
Spastic paraplegia 9A, autosomal dominant 601162
Spastic paraplegia 9B, autosomal recessive 616586
Associated With aldh18a1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR019797 Glutamate 5-kinase, conserved site
Conserved_site IPR020593 Gamma-glutamyl phosphate reductase GPR, conserved site
Domain IPR000965 GPR domain
Domain IPR001048 Aspartate/glutamate/uridylate kinase
Domain IPR015590 Aldehyde dehydrogenase domain
Domain IPR041744 Bifunctional delta 1-pyrroline-5-carboxylate synthetase, glutamate-5-kinase domain
Family IPR001057 Glutamate/acetylglutamate kinase
Family IPR005715 Glutamate 5-kinase/delta-1-pyrroline-5-carboxylate synthase
Family IPR005766 Delta l-pyrroline-5-carboxylate synthetase
Homologous_superfamily IPR016161 Aldehyde/histidinol dehydrogenase
Homologous_superfamily IPR016162 Aldehyde dehydrogenase, N-terminal
Homologous_superfamily IPR016163 Aldehyde dehydrogenase, C-terminal
Homologous_superfamily IPR036393 Acetylglutamate kinase-like superfamily
Domain Details Per Protein
Protein Length Acetylglutamate kinase-like superfamily Aldehyde dehydrogenase, C-terminal Aldehyde dehydrogenase domain Aldehyde dehydrogenase, N-terminal Aldehyde/histidinol dehydrogenase Aspartate/glutamate/uridylate kinase Bifunctional delta 1-pyrroline-5-carboxylate synthetase, glutamate-5-kinase domain Delta l-pyrroline-5-carboxylate synthetase Gamma-glutamyl phosphate reductase GPR, conserved site Glutamate 5-kinase, conserved site Glutamate 5-kinase/delta-1-pyrroline-5-carboxylate synthase Glutamate/acetylglutamate kinase GPR domain
UniProtKB:A0A8M3AYJ5 803
UniProtKB:A4IGC8 782
UniProtKB:A0A8M3B4R7 805
Transcripts
Genome Browsers
Type Name Annotation Method Length (nt) Analysis
mRNA aldh18a1-201 (1) Havana 4416 nt
mRNA aldh18a1-202 (1) Ensembl 5543 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations