ALDH1A3 - aldehyde dehydrogenase 1 family member A3 Gene

Also Known as ALDH6; MCOP8; RALDH3; ALDH1A6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 220

About ALDH1A3

Cytogenetic location: 15q26.3 Genomic coordinates (GRCh38): 15:100,879,831-100,916,626 (from NCBI)

This gene has 7 transcripts (splice variants), 201 orthologues, 17 paralogues and is associated with 4 phenotypes. Broad expression in prostate (RPKM 82.4), urinary bladder (RPKM 32.4) and 14 other tissues.

Summary

This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

ALDH1A3 Products (2)

mRNA Protein Name
NM_000693.4 NP_000684.2 aldehyde dehydrogenase family 1 member A3 isoform 1
NM_001293815.2 NP_001280744.1 aldehyde dehydrogenase family 1 member A3 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables aldehyde dehydrogenase [NAD(P)+] activity IDA
IDA: Inferred from direct assay
11585737 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
11585737 GOA
enables retinal dehydrogenase activity IDA
IDA: Inferred from direct assay
27759097 GOA
Biological Process GO Annotation Evidence References Source
involved in protein homotetramerization IDA
IDA: Inferred from direct assay
27759097 GOA
involved in retinal metabolic process IDA
IDA: Inferred from direct assay
11585737 GOA
involved in retinoic acid biosynthetic process IDA
IDA: Inferred from direct assay
27759097 GOA
involved in retinoic acid metabolic process IDA
IDA: Inferred from direct assay
11585737 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
11585737 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

ALDH1A3 Protein Structure

Aldedh

Aldedh: Aldehyde dehydrogenase family (40 - 503)

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

aldehyde dehydrogenase family 1 member A3

  • acetaldehyde dehydrogenase 6

Recombinant ALDH1A3 Proteins

Cat. No. Product Name Accession Purity
HY-P7476 ALDH1A3 Protein, Human (His) P47895 (M1-P512) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Microphthalmia, Isolated 8

  • MCOP8

  • Isolated Microphthalmia 8

  • Microphthalmia, Isolated, 8

  • Microphthalmia, Isolated, Type 8
Microphthalmia

  • Microphthalmos

  • Isolated Anophthalmia-Microphthalmia Syndrome

  • Isolated Microphthalmia-Anophthalmia-Coloboma

  • Simple Microphthalmos

  • Clinical Anophthalmia

  • Isolated Anophthalmia - Microphthalmia

  • Isolated Pure Microphthalmia

  • Mac Spectrum

  • Microphthalmia-Anophthalmia-Coloboma Spectrum

  • Primitive Anophthalmia

  • Globe Of Eye Small

  • Small Eyeball

  • Hypoplasia Of Eye

  • Isolated Nanophthalmos

  • Rudimentary Eye

  • Dysplasia Of Eye
Nanophthalmos

  • Nanophthalmia
Colobomatous Microphthalmia

  • Anophthalmia-Microphthalmia Syndrome

  • Mac

  • Microphthalmia With Colobomatous Cyst

  • Microphthalmia-Anophthalmia-Coloboma Syndrome

  • Microphthalmia-Anophthalmia-Coloboma

  • Microphthalmia And Mental Deficiency
Autism

  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic
Isolated Microphthalmia
Microphthalmia, Syndromic 9

  • Matthew-Wood Syndrome

  • Spear Syndrome

  • Anophthalmia/Microphthalmia And Pulmonary Hypoplasia

  • Microphthalmia, Isolated, With Coloboma 8

  • MCOPS9

  • Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm

  • Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect

  • Pdac

  • Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect

  • Pmd

  • Syndromic Microphthalmia 9

  • Anophthalmia-Pulmonary Hypoplasia Syndrome

  • Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations

  • Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect

  • Microphthalmia Syndromic 9

  • Matthew Wood Syndrome

  • Pdac Syndrome

  • Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome

  • Microphthalmia, Isolated, With Coloboma, 8

  • MCOPCB8

  • Isolated Colobomatous Microphthalmia 8

  • Microphthalmia, Syndromic, 9

  • Anophthalmia With Pulmonary Hypoplasia

  • Microphthalmia Syndromic, Type 9

  • Anophthalmia And Pulmonary Hypoplasia
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
Succinic Semialdehyde Dehydrogenase Deficiency

  • 4-Hydroxybutyric Aciduria

  • Ssadh Deficiency

  • Gamma-Hydroxybutyric Aciduria

  • Gaba Metabolic Defect

  • SSADHD

  • Ssadh

  • Succinate-Semialdehyde Dehydrogenase Deficiency

  • Gamma-Hydroxybutyricaciduria

  • 4-Hydroxybutyricaciduria

  • Gamma-Hydroxybutyric Acidemia

  • Succinate Semialdehyde Dehydrogenase Deficiency
Gamma-Amino Butyric Acid Metabolism Disorder

  • Disorder Of Gamma-Aminobutyric Acid Metabolism

  • Disorder Of Gaba Metabolism

  • Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism
Choanal Atresia, Posterior

  • Choanal Atresia

  • Atresia Of Nares

  • Posterior Choanal Atresia

  • PCA

  • Imperforate Nares

  • Choanal Fusion

  • Congenital Stenosis Of Nares

  • Congenital Stenosis Of Choanae

  • Nasal Atresia Nos
Coloboma Of Macula

  • Coloboma

  • Congenital Ocular Coloboma

  • Microphthalmia, Isolated, With Coloboma

  • Agenesis Of Macula

  • Hereditary Macular Coloboma

  • Ocular Coloboma

  • Coloboma Of Eye

  • Macular Coloboma

  • Uveoretinal Coloboma
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (16)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-W015273A trans-3-Indoleacrylic acid Inhibitor 99.77% Unkown
HY-125085 ALDH3A1-IN-3 Inhibitor 99.43% Unkown
HY-122912 ALDH1A inhibitor 673A 99.15% Unkown
HY-144667 ALDH1A3-IN-1 Inhibitor 98.05% Unkown
HY-135841 CM010 Inhibitor 99.70% Unkown
HY-W017186 ALDH1A3-IN-3 Inhibitor 99.26% Unkown
HY-164781 KOTX1 Inhibitor 98.94% Unkown
HY-169884 MCI-INI-3 Inhibitor 99.23% Unkown
HY-144669 ALDH1A3-IN-2 Inhibitor 99.85% Unkown
HY-128299 ALDH3A1-IN-4 Inhibitor 99.91% Unkown
HY-RS23346 Aldh1a3 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-158026 ALDH1A1-IN-5 Inhibitor / Unkown
HY-159111 KS124 / Unkown
HY-RS00564 ALDH1A3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-169883 PKM2-IN-7 Inhibitor / Unkown
HY-RS16904 Aldh1a3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta ALDH1A3 VGNC VGNC:81353
Canis familiaris ALDH1A3 VGNC VGNC:37784
Rattus norvegicus ALDH1A3 RGD RGD:628662
Mus musculus ALDH1A3 MGD MGI:1861722
Bos taurus ALDH1A3 VGNC VGNC:59168
Felis catus ALDH1A3 VGNC VGNC:80778
Others ALDH1A3 NCBI