2. Gene
  3. ALDH1A3 - aldehyde dehydrogenase 1 family member A3 Gene

ALDH1A3 - aldehyde dehydrogenase 1 family member A3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ALDH6; MCOP8; RALDH3; ALDH1A6

Gene ID: 220 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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) ≥95%

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
Bioactive Molecules (10)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-W015273A trans-3-Indoleacrylic acid Inhibitor 99.45% Unkown
HY-W017186 ALDH1A3-IN-3 Inhibitor 99.12% Unkown
HY-144667 ALDH1A3-IN-1 Inhibitor 98.43% Unkown
HY-135841 CM010 Inhibitor 98.07% Unkown
HY-144669 ALDH1A3-IN-2 Inhibitor 99.28% Unkown
HY-122912 ALDH1A inhibitor 673A 99.15% Unkown
HY-125085 ALDH3A1-IN-3 Inhibitor 99.30% Unkown
HY-158026 ALDH1A1-IN-5 Inhibitor / Unkown
HY-159111 KS124 / Unkown
HY-RS00564 ALDH1A3 Human Pre-designed siRNA Set A Pre-designed Sets / 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