1. Gene
  2. ALDH3A1 - aldehyde dehydrogenase 3 family member A1 Gene

ALDH3A1 - aldehyde dehydrogenase 3 family member A1 Gene

Homo sapiens

Also known as ALDH3; ALDHIII

Gene ID: 218 | Gene type: protein coding

About ALDH3A1

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:19,737,984-19,748,298 (from NCBI)

This gene has 17 transcripts (splice variants), 370 orthologues and 17 paralogues. Biased expression in esophagus (RPKM 74.7), stomach (RPKM 49.1) and 1 other tissue.

Summary

Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The Enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]

ALDH3A1 Products(6)

mRNA Protein Name
NM_001135167.1 NP_001128639.1 aldehyde dehydrogenase, dimeric NADP-preferring isoform 1
NM_001330150.2 NP_001317079.1 aldehyde dehydrogenase, dimeric NADP-preferring isoform 2
NM_001135168.1 NP_001128640.1 aldehyde dehydrogenase, dimeric NADP-preferring isoform 1
XM_011523731.3 XP_011522033.1 aldehyde dehydrogenase, dimeric NADP-preferring isoform X2
XM_047435595.1 XP_047291551.1 aldehyde dehydrogenase, dimeric NADP-preferring isoform X1
NM_000691.5 NP_000682.3 aldehyde dehydrogenase, dimeric NADP-preferring isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables alcohol dehydrogenase (NADP+) activity IDA
IDA: Inferred from direct assay
1737758 GOA
enables aldehyde dehydrogenase (NAD+) activity IDA
IDA: Inferred from direct assay
1737758 GOA
enables benzaldehyde dehydrogenase (NAD+) activity IDA
IDA: Inferred from direct assay
4015840 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21044950 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cellular aldehyde metabolic process IDA
IDA: Inferred from direct assay
1737758 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALDH3A1 Protein Structure

Aldedh

Aldedh: Aldehyde dehydrogenase family (3 - 425)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 453 a.a.
Protein Preferred Names Protein Names

aldehyde dehydrogenase, dimeric NADP-preferring

aldehyde dehydrogenase isozyme 3

aldehyde dehydrogenase type III

stomach aldehyde dehydrogenase

Recombinant ALDH3A1 Proteins

Cat. No. Product Name Accession Purity
HY-P7477 ALDH3A1 Protein, Human (HEK293, His) P30838 (M1-Q452) ≥95%
HY-P75568 ALDH3A1 Protein, Human (sf9, His) AAH04370.1 (M1-H453) ≥95%

Related Diseases

Diseases Alias
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Hyperprolinemia

Proline Oxidase Deficiency

Hyperprolinemia Type 1

Proline Hydrogenase Deficiency

Prolinemia

Pyrroline Carboxylate Dehydrogenase Deficiency

Pyrroline-5-Carboxylate Dehydrogenase Deficiency

Proline Dehydrogenase Deficiency

Hyperprolinemia Type 2

Sjogren-Larsson Syndrome

Sjögren-Larsson Syndrome

SLS

Faldh Deficiency

Fatty Aldehyde Dehydrogenase Deficiency

Fatty Acid Alcohol Oxidoreductase Deficiency

Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia

Sjogren Larsson Syndrome

Fatty Alcohol:Nad+ Oxidoreductase Deficiency

Sjogren-Larsson'S Syndrome

Fadh Deficiency

Fao Deficiency

Congenital Icthyosis Mental Retardation Spasticity Syndrome

Ichthyosis Oligophrenia Syndrome

Sjoegren-Larsson Syndrome

Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea

Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ALDH3A1 RGD RGD:2088
Canis familiaris ALDH3A1 VGNC VGNC:37786
Macaca mulatta ALDH3A1 VGNC VGNC:69786
Mus musculus ALDH3A1 MGD MGI:1353451
Bos taurus ALDH3A1 VGNC VGNC:25813
Felis catus ALDH3A1 VGNC VGNC:59736
Others ALDH3A1 NCBI