aldehyde dehydrogenase 1 family member A3

Summary
Gene Symbol
  • ALDH1A3
Aliases
  • RALDH3
  • retinaldehyde dehydrogenase 3
Organism
Homo sapiens (human)
External Links
NCBI Gene
220
HGNC
409
KEGG Gene ID
hsa:220
PubChem
220
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Lipid metabolism
  • Microphthalmia
  • NAD
  • Oxidoreductase
  • Proteomics identification
  • Reference proteome
Proteins
Displaying all 3 entries
UniProt Protein Name
P47895
  • Aldehyde dehydrogenase 6
  • Aldehyde dehydrogenase family 1 member A3
H0Y2X5
Q7Z3A2
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000184254

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K07249
Name
retinal dehydrogenase [EC:1.2.1.36]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 96 in total
DO ID Disease Name Source
DOID:0050424 familial adenomatous polyposis
DOID:0050638 transthyretin amyloidosis
DOID:0050646 distal arthrogryposis
DOID:0050778 Meckel syndrome
DOID:0060041 autism spectrum disorder
DOID:0060835 isolated microphthalmia 6
DOID:0060836 isolated microphthalmia 4
DOID:0060838 isolated microphthalmia 7
DOID:0060839 isolated microphthalmia 2
DOID:0060840 isolated microphthalmia 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 15 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000480 Retinal coloboma
HP:0000486 Strabismus
HP:0000501 Glaucoma
HP:0000528 Anophthalmia
HP:0000541 Retinal detachment
HP:0000568 Microphthalmia
HP:0000609 Optic nerve hypoplasia
HP:0000610 Abnormal choroid morphology
HP:0000621 Entropion
Displaying all 2 entries
Disease ID Disease Name
OMIM:615113
  • isolated microphthalmia 8
ORPHA:35612
  • nanophthalmia
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002047
Gene Name
aldehyde dehydrogenase 1 family, member A3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024