Gene

aldh4a1

ID
ZDB-GENE-040426-1179
Name
aldehyde dehydrogenase 4 family, member A1
Symbol
aldh4a1 Nomenclature History
Previous Names
  • zgc:63592
Type
protein_coding_gene
Location
Chr: 11 Mapping Details/Browsers
Description
Predicted to have 1-pyrroline-5-carboxylate dehydrogenase activity. Predicted to be involved in oxidation-reduction process and proline catabolic process to glutamate. Predicted to localize to mitochondrial matrix. Human ortholog(s) of this gene implicated in hyperprolinemia type 2. Is expressed in several structures, including alar plate midbrain region; optic tectum; optic vesicle; pronephric duct; and yolk syncytial layer. Orthologous to human ALDH4A1 (aldehyde dehydrogenase 4 family member A1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
6 figures from Thisse et al., 2004
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 aldh4a1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hyperprolinemia type 2 Alliance Hyperprolinemia, type II 239510
Associated With aldh4a1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR016160 Aldehyde dehydrogenase, cysteine active site
Conserved_site IPR029510 Aldehyde dehydrogenase, glutamic acid active site
Domain IPR015590 Aldehyde dehydrogenase domain
Family IPR005931 Delta-1-pyrroline-5-carboxylate dehydrogenase
Homologous_superfamily IPR016161 Aldehyde/histidinol dehydrogenase
Homologous_superfamily IPR016162 Aldehyde dehydrogenase, N-terminal
Homologous_superfamily IPR016163 Aldehyde dehydrogenase, C-terminal
Domain Details Per Protein
Protein Length Aldehyde dehydrogenase, C-terminal Aldehyde dehydrogenase, cysteine active site Aldehyde dehydrogenase domain Aldehyde dehydrogenase, glutamic acid active site Aldehyde dehydrogenase, N-terminal Aldehyde/histidinol dehydrogenase Delta-1-pyrroline-5-carboxylate dehydrogenase
UniProtKB:A0A140LG76 556
UniProtKB:Q7SY23 556
Transcripts
Genome Browsers
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