Aldehyde dehydrogenase 4 family, member A1

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.^[5][6]

PDBOrtholog search: PDBe RCSB

AliasesALDH4A1, ALDH4, P5CD, P5CDh, Aldehyde dehydrogenase 4 family, member A1, aldehyde dehydrogenase 4 family member A1

External IDsOMIM: 606811; MGI: 2443883; HomoloGene: 6081; GeneCards: ALDH4A1; OMA:ALDH4A1 - orthologs

Chr.Chromosome 1 (human)^[1]

Quick facts ALDH4A1, Available structures ...

ALDH4A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3V9G, 3V9H, 3V9I, 4OE5
Identifiers
Aliases	ALDH4A1, ALDH4, P5CD, P5CDh, Aldehyde dehydrogenase 4 family, member A1, aldehyde dehydrogenase 4 family member A1
External IDs	OMIM: 606811; MGI: 2443883; HomoloGene: 6081; GeneCards: ALDH4A1; OMA:ALDH4A1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.13 Start 18,871,430 bp[1] End 18,902,724 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D3|4 70.79 cM Start 139,350,177 bp[2] End 139,377,001 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver kidney tubule human kidney muscle of thigh gastrocnemius muscle putamen amygdala caudate nucleus right frontal lobe cingulate gyrus Top expressed in right kidney left lobe of liver human kidney proximal tubule muscle of thigh lip right ventricle skeletal muscle tissue triceps brachii muscle granulocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function electron transfer activity 1-pyrroline-5-carboxylate dehydrogenase activity oxidoreductase activity aldehyde dehydrogenase (NAD+) activity identical protein binding oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Cellular component mitochondrial matrix mitochondrion Biological process metabolism 4-hydroxyproline catabolic process proline catabolic process to glutamate proline catabolic process proline metabolic process glyoxylate metabolic process electron transport chain Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8659 212647 Ensembl ENSG00000159423 ENSMUSG00000028737 UniProt P30038 Q8CHT0 RefSeq (mRNA) NM_001161504 NM_003748 NM_170726 NM_001319218 NM_175438 RefSeq (protein) NP_001154976 NP_001306147 NP_003739 NP_733844 NP_780647 Location (UCSC) Chr 1: 18.87 – 18.9 Mb Chr 4: 139.35 – 139.38 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Close

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase that catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Two transcript variants encoding the same protein have been identified for this gene.^[6]