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ALDH1A3 aldehyde dehydrogenase 1 family member A3 [ Homo sapiens (human) ]

Gene ID: 220, updated on 4-Jun-2023

Summary

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Official Symbol
ALDH1A3provided by HGNC
Official Full Name
aldehyde dehydrogenase 1 family member A3provided by HGNC
Primary source
HGNC:HGNC:409
See related
Ensembl:ENSG00000184254 MIM:600463; AllianceGenome:HGNC:409
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALDH6; MCOP8; RALDH3; ALDH1A6
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]
Expression
Broad expression in prostate (RPKM 82.4), urinary bladder (RPKM 32.4) and 14 other tissues See more
Orthologs
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Genomic context

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See ALDH1A3 in Genome Data Viewer
Location:
15q26.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (100879831..100916626)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (98634889..98671163)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (101420036..101456831)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9420 Neighboring gene gastric cancer associated WDR5 and KAT2A binding lncRNA Neighboring gene collagen alpha-1(I) chain-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101420568-101421082 Neighboring gene ALDH1A3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101458234-101458826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101460013-101460604 Neighboring gene leucine rich repeat kinase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Structural and biochemical evidence that ATP inhibits the cancer biomarker human aldehyde dehydrogenase 1A3. Castellví A, et al. Commun Biol, 2022 Apr 13. PMID 35418200, Free PMC Article
  2. Incomplete penetrance of autosomal recessive anophthalmia in a large consanguineous family. Dehghan Tezerjani M, et al. Ophthalmic Genet, 2021 Dec. PMID 34287093
  3. The predominant expression of cancer stem cell marker ALDH1A3 in tumor infiltrative area is associated with shorter overall survival of human glioblastoma. Gan C, et al. BMC Cancer, 2020 Jul 17. PMID 32680476, Free PMC Article
  4. ALDH1A3 serves as a predictor for castration resistance in prostate cancer patients. Wang S, et al. BMC Cancer, 2020 May 6. PMID 32375698, Free PMC Article
  5. High expression of ALDH1A3 might independently influence poor progression-free and overall survival in patients with glioma via maintaining glucose uptake and lactate production. Ni W, et al. Cell Biol Int, 2020 Feb. PMID 31642564

See all (90) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MiR-320b aberrant expression enhances the radioresistance of human glioma via upregulated expression of ALDH1A3.
    Title: MiR-320b aberrant expression enhances the radioresistance of human glioma via upregulated expression of ALDH1A3.
  2. High Expression of CD58 and ALDH1A3 Predicts a Poor Prognosis in Basal-like Breast Cancer.
    Title: High Expression of CD58 and ALDH1A3 Predicts a Poor Prognosis in Basal-like Breast Cancer.
  3. High Expression of p62 and ALDH1A3 Is Associated With Poor Prognosis in Luminal B Breast Cancer.
    Title: High Expression of p62 and ALDH1A3 Is Associated With Poor Prognosis in Luminal B Breast Cancer.
  4. Structural and biochemical evidence that ATP inhibits the cancer biomarker human aldehyde dehydrogenase 1A3.
    Title: Structural and biochemical evidence that ATP inhibits the cancer biomarker human aldehyde dehydrogenase 1A3.
  5. Aldehyde dehydrogenase 1A1 and 1A3 isoforms - mechanism of activation and regulation in cancer.
    Title: Aldehyde dehydrogenase 1A1 and 1A3 isoforms - mechanism of activation and regulation in cancer.
  6. Disruption of KDM4C-ALDH1A3 feed-forward loop inhibits stemness, tumorigenesis and chemoresistance of gastric cancer stem cells.
    Title: Disruption of KDM4C-ALDH1A3 feed-forward loop inhibits stemness, tumorigenesis and chemoresistance of gastric cancer stem cells.
  7. Incomplete penetrance of autosomal recessive anophthalmia in a large consanguineous family.
    Title: Incomplete penetrance of autosomal recessive anophthalmia in a large consanguineous family.
  8. ALDH1A3 Coordinates Metabolism With Gene Regulation in Pulmonary Arterial Hypertension.
    Title: ALDH1A3 Coordinates Metabolism With Gene Regulation in Pulmonary Arterial Hypertension.
  9. MicroRNA487b3p inhibits osteosarcoma chemoresistance and metastasis by targeting ALDH1A3.
    Title: MicroRNA‑487b‑3p inhibits osteosarcoma chemoresistance and metastasis by targeting ALDH1A3.
  10. ALDH1A3-regulated long non-coding RNA NRAD1 is a potential novel target for triple-negative breast tumors and cancer stem cells.
    Title: ALDH1A3-regulated long non-coding RNA NRAD1 is a potential novel target for triple-negative breast tumors and cancer stem cells.
Submit: New GeneRIF Correction See all GeneRIFs (65)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Isolated microphthalmia 8
MedGen: C3554524 OMIM: 615113 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: GCAWKR

Homology

Clone Names

  • FLJ31972, MGC126654, MGC150974

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD+ binding IEA
Inferred from Electronic Annotation
more info
  
enables aldehyde dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables aldehyde dehydrogenase [NAD(P)+] activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables retinal dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables thyroid hormone binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Harderian gland development IEA
Inferred from Electronic Annotation
more info
  
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in embryonic camera-type eye development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in embryonic eye morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in face development IEA
Inferred from Electronic Annotation
more info
  
involved_in inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
  
involved_in nucleus accumbens development IEA
Inferred from Electronic Annotation
more info
  
involved_in olfactory pit development IEA
Inferred from Electronic Annotation
more info
  
involved_in optic cup morphogenesis involved in camera-type eye development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in protein homotetramerization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinal metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinoic acid biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinoic acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinol metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in righting reflex IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
aldehyde dehydrogenase family 1 member A3
Names
acetaldehyde dehydrogenase 6
aldehyde dehydrogenase 6
retinaldehyde dehydrogenase 3
NP_000684.2
NP_001280744.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012254.1 RefSeqGene

    Range
    5028..41823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000693.4 → NP_000684.2  aldehyde dehydrogenase family 1 member A3 isoform 1

    See identical proteins and their annotated locations for NP_000684.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC069274, DB480234
    Consensus CDS
    CCDS10389.1
    UniProtKB/Swiss-Prot
    P47895, Q6NT64
    UniProtKB/TrEMBL
    A0A024RC95
    Related
    ENSP00000332256.5, ENST00000329841.10
    Conserved Domains (1) summary
    cd07141
    Location:26 → 506
    ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like

  2. NM_001293815.2 → NP_001280744.1  aldehyde dehydrogenase family 1 member A3 isoform 2

    See identical proteins and their annotated locations for NP_001280744.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks three alternate in-frame exons, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    BC069274, BX538027, DB480234
    Consensus CDS
    CCDS76794.1
    UniProtKB/Swiss-Prot
    P47895
    UniProtKB/TrEMBL
    H0Y2X5, Q7Z3A2
    Related
    ENSP00000343294.6, ENST00000346623.6
    Conserved Domains (2) summary
    PLN02466
    Location:19 → 405
    PLN02466; aldehyde dehydrogenase family 2 member
    cl11961
    Location:26 → 399
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    100879831..100916626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    98634889..98671163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001037224.1: Suppressed sequence

    Description
    NM_001037224.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P47895.2 GenPept UniProtKB/Swiss-Prot:P47895

Gene LinkOut

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