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

Summary

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: mouse all
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Genomic context

Location:: 15q26.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (100879831..100916626)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (98634889..98671163)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (101420036..101456831)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ALDH1A3 is the switch that determines the balance of ALDH[+] and CD24[-]CD44[+] cancer stem cells, EMT-MET, and glucose metabolism in breast cancer.
Title: ALDH1A3 is the switch that determines the balance of ALDH(+) and CD24(-)CD44(+) cancer stem cells, EMT-MET, and glucose metabolism in breast cancer.
METTL3-mediated ALDH m[6]A methylation regulates the malignant behavior of BMI1[+] HNSCC stem cells.
Title: METTL3-mediated ALDH m(6)A methylation regulates the malignant behavior of BMI1(+) HNSCC stem cells.
ALDH1A3 promotes invasion and metastasis in triple-negative breast cancer by regulating the plasminogen activation pathway.
Title: ALDH1A3 promotes invasion and metastasis in triple-negative breast cancer by regulating the plasminogen activation pathway.
Enhanced Sensitivity to ALDH1A3-Dependent Ferroptosis in TMZ-Resistant Glioblastoma Cells.
Title: Enhanced Sensitivity to ALDH1A3-Dependent Ferroptosis in TMZ-Resistant Glioblastoma Cells.
Lactic acidosis promotes aggressive features of cholangiocarcinoma cells via upregulating ALDH1A3 expression through EGFR axis.
Title: Lactic acidosis promotes aggressive features of cholangiocarcinoma cells via upregulating ALDH1A3 expression through EGFR axis.
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Title: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (70)

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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S1345 (e-PCR)
- UniSTS:45142

SHGC-154796 (e-PCR)
- UniSTS:182901

RH66397 (e-PCR)
- UniSTS:28838

RH48812 (e-PCR)
- UniSTS:19438

ALDH1A3_289 (e-PCR)
- UniSTS:276987

Aldh1a3 (e-PCR), detects polymorphism
- UniSTS:547583

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
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 more info	PubMed

General protein information

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Preferred Names: retinaldehyde dehydrogenase 3

Names: acetaldehyde dehydrogenase 6; aldehyde dehydrogenase 6

NP_000684.2

EC 1.2.1.36

NP_001280744.1

EC 1.2.1.36

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

NG_012254.1 RefSeqGene

Range

5028..41823

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000693.4 → NP_000684.2 retinaldehyde dehydrogenase 3 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

B2R5T2

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
NM_001293815.2 → NP_001280744.1 retinaldehyde dehydrogenase 3 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/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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

100879831..100916626

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

98634889..98671163

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.