ALDH3A1 - aldehyde dehydrogenase 3 family member A1 Gene

Also Known as ALDH3; ALDHIII

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 218

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
Molecular Function GO Annotation Evidence Références 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 Références 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

ALDH3A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
ALDH3A1 P30838 POT1 Homo sapiens Q9NUX5 21044950
Intra
ALDH3A1 P30838 POT1 Homo sapiens Q9NUX5 21044950
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ALDH3A1 Proteins

Cat. No. Nom du produit Accession Pureté
HY-P7477 ALDH3A1 Protein, Human (HEK293, His) P30838 (M1-H453) ≥ 80%, as determined by reducing SDS-PAGE.
HY-P75568 ALDH3A1 Protein, Human (sf9, His) AAH04370.1 (M1-H453) ≥ 90%, as determined by reducing SDS-PAGE.

ALDH3A1 Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P81375 ALDH3A1 Antibody (YA1120) IHC-P Human
HY-P81375A ALDH3A1 Antibody (YA1120)(PBS only) IHC-P Human

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