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 enable glutamate-5-semialdehyde dehydrogenase activity. Predicted to be involved in L-proline biosynthetic process. Predicted to act upstream of or within phosphorylation and proline biosynthetic process. Predicted to be located in cytoplasm. Predicted to be active in 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb842 (12 images)
cb881 (3 images)
cb899 (5 images)
IMAGE:7165398 (14 images)

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
autosomal dominant cutis laxa 3	Alliance	Cutis laxa, autosomal dominant 3	616603
autosomal recessive cutis laxa type IIIA	Alliance	Cutis laxa, autosomal recessive, type IIIA	219150
hereditary spastic paraplegia 9A	Alliance	Spastic paraplegia 9A, autosomal dominant	601162
hereditary spastic paraplegia 9B	Alliance	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