Human Gene ALDH1A3 (ENST00000329841.10) from GENCODE V49
  Description: aldehyde dehydrogenase 1 family member A3, transcript variant 1 (from RefSeq NM_000693.4)
Gencode Transcript: ENST00000329841.10
Gencode Gene: ENSG00000184254.19
Transcript (Including UTRs)
   Position: hg38 chr15:100,879,831-100,916,626 Size: 36,796 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg38 chr15:100,879,908-100,914,773 Size: 34,866 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2025-09-17 13:57:07

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:100,879,831-100,916,626)mRNA (may differ from genome)Protein (512 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AL1A3_HUMAN
DESCRIPTION: RecName: Full=Aldehyde dehydrogenase family 1 member A3; EC=1.2.1.5; AltName: Full=Aldehyde dehydrogenase 6; AltName: Full=Retinaldehyde dehydrogenase 3; Short=RALDH-3; Short=RalDH3;
FUNCTION: Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system (By similarity).
CATALYTIC ACTIVITY: An aldehyde + NAD(P)(+) + H(2)O = a carboxylate + NAD(P)H.
PATHWAY: Cofactor metabolism; retinol metabolism.
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
TISSUE SPECIFICITY: Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney.
SIMILARITY: Belongs to the aldehyde dehydrogenase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ALDH1A3
Diseases sorted by gene-association score: microphthalmia, isolated 8* (1341), isolated microphthalmia* (83), microphthalmia (17), glioblastoma proneural subtype (15), anophthalmia/microphthalmia (7), ras-associated autoimmune leukoproliferative disorder (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 46.53 RPKM in Prostate
Total median expression: 305.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.8077-0.465 Picture PostScript Text
3' UTR -493.601853-0.266 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016161 - Ald_DH/histidinol_DH
IPR016163 - Ald_DH_C
IPR016160 - Ald_DH_CS
IPR016162 - Ald_DH_N
IPR015590 - Aldehyde_DH_dom

Pfam Domains:
PF00171 - Aldehyde dehydrogenase family

ModBase Predicted Comparative 3D Structure on P47895
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001758 retinal dehydrogenase activity
GO:0004029 aldehyde dehydrogenase (NAD) activity
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity
GO:0016491 oxidoreductase activity
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor
GO:0042803 protein homodimerization activity
GO:0070324 thyroid hormone binding
GO:0070403 NAD+ binding

Biological Process:
GO:0002072 optic cup morphogenesis involved in camera-type eye development
GO:0002138 retinoic acid biosynthetic process
GO:0007626 locomotory behavior
GO:0008152 metabolic process
GO:0021768 nucleus accumbens development
GO:0031076 embryonic camera-type eye development
GO:0042472 inner ear morphogenesis
GO:0042572 retinol metabolic process
GO:0042573 retinoic acid metabolic process
GO:0042574 retinal metabolic process
GO:0043065 positive regulation of apoptotic process
GO:0043584 nose development
GO:0048048 embryonic eye morphogenesis
GO:0050885 neuromuscular process controlling balance
GO:0051289 protein homotetramerization
GO:0055114 oxidation-reduction process
GO:0060013 righting reflex
GO:0060166 olfactory pit development
GO:0060324 face development
GO:0070384 Harderian gland development

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK303441 - Homo sapiens cDNA FLJ57762 complete cds, highly similar to Aldehyde dehydrogenase 1A3 (EC 1.2.1.5).
AK312303 - Homo sapiens cDNA, FLJ92608, highly similar to Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.
BC009245 - Homo sapiens aldehyde dehydrogenase 1 family, member A3, mRNA (cDNA clone IMAGE:2960240).
AL110109 - Homo sapiens EST from clone 527033, 5' end.
BC069274 - Homo sapiens aldehyde dehydrogenase 1 family, member A3, mRNA (cDNA clone MGC:78582 IMAGE:6208628), complete cds.
U07919 - Human aldehyde dehydrogenase 6 mRNA, complete cds.
AK302607 - Homo sapiens cDNA FLJ57235 complete cds, highly similar to Aldehyde dehydrogenase 1A3 (EC 1.2.1.5).
JD146289 - Sequence 127313 from Patent EP1572962.
BX538027 - Homo sapiens mRNA; cDNA DKFZp686G1675 (from clone DKFZp686G1675); complete cds.
AB385140 - Synthetic construct DNA, clone: pF1KB5640, Homo sapiens ALDH1A3 gene for aldehyde dehydrogenase 1 family, member A3, complete cds, without stop codon, in Flexi system.
EU832038 - Synthetic construct Homo sapiens clone HAIB:100067067; DKFZo004D0824 aldehyde dehydrogenase 1 family, member A3 protein (ALDH1A3) gene, encodes complete protein.
EU831943 - Synthetic construct Homo sapiens clone HAIB:100066972; DKFZo008D0823 aldehyde dehydrogenase 1 family, member A3 protein (ALDH1A3) gene, encodes complete protein.
KJ905142 - Synthetic construct Homo sapiens clone ccsbBroadEn_14539 ALDH1A3 gene, encodes complete protein.
AK124965 - Homo sapiens cDNA FLJ42975 fis, clone BRTHA2002608.
JD351888 - Sequence 332912 from Patent EP1572962.
JD181453 - Sequence 162477 from Patent EP1572962.
JD278936 - Sequence 259960 from Patent EP1572962.
JD209766 - Sequence 190790 from Patent EP1572962.
JD083933 - Sequence 64957 from Patent EP1572962.
JD245268 - Sequence 226292 from Patent EP1572962.
JD328616 - Sequence 309640 from Patent EP1572962.
JD047107 - Sequence 28131 from Patent EP1572962.
JD335214 - Sequence 316238 from Patent EP1572962.
JD164461 - Sequence 145485 from Patent EP1572962.
JD132100 - Sequence 113124 from Patent EP1572962.
JD300251 - Sequence 281275 from Patent EP1572962.
JD497416 - Sequence 478440 from Patent EP1572962.
JD134360 - Sequence 115384 from Patent EP1572962.
JD557034 - Sequence 538058 from Patent EP1572962.
JD449274 - Sequence 430298 from Patent EP1572962.
JD450645 - Sequence 431669 from Patent EP1572962.
JD236626 - Sequence 217650 from Patent EP1572962.
JD327155 - Sequence 308179 from Patent EP1572962.
JD312957 - Sequence 293981 from Patent EP1572962.
JD356006 - Sequence 337030 from Patent EP1572962.
JD476512 - Sequence 457536 from Patent EP1572962.
JD503203 - Sequence 484227 from Patent EP1572962.
JD059177 - Sequence 40201 from Patent EP1572962.
JD182243 - Sequence 163267 from Patent EP1572962.
JD448002 - Sequence 429026 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00010 - Glycolysis / Gluconeogenesis
hsa00340 - Histidine metabolism
hsa00350 - Tyrosine metabolism
hsa00360 - Phenylalanine metabolism
hsa00980 - Metabolism of xenobiotics by cytochrome P450
hsa00982 - Drug metabolism - cytochrome P450
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-6872 - retinoate biosynthesis I

Reactome (by CSHL, EBI, and GO)

Protein P47895 (Reactome details) participates in the following event(s):

R-HSA-5362522 ALDHs oxidise atRAL to atRA
R-HSA-5365859 RA biosynthesis pathway
R-HSA-5362517 Signaling by Retinoic Acid
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: AL1A3_HUMAN, ALDH6 , ENST00000329841.1, ENST00000329841.2, ENST00000329841.3, ENST00000329841.4, ENST00000329841.5, ENST00000329841.6, ENST00000329841.7, ENST00000329841.8, ENST00000329841.9, NM_000693, P47895, Q6NT64, uc002bwn.1, uc002bwn.2, uc002bwn.3, uc002bwn.4, uc002bwn.5, uc002bwn.6
UCSC ID: ENST00000329841.10
RefSeq Accession: NM_000693.4
Protein: P47895 (aka AL1A3_HUMAN or DHA6_HUMAN)
CCDS: CCDS10389.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.