Aldh1a3 aldehyde dehydrogenase family 1, subfamily A3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aldh1a3provided by MGI
Official Full Name: aldehyde dehydrogenase family 1, subfamily A3provided by MGI
Primary source: MGI:MGI:1861722
See related: Ensembl:ENSMUSG00000015134 AllianceGenome:MGI:1861722
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: V1; ALDH6; RALDH3
Summary: Enables NAD+ binding activity; aldehyde dehydrogenase (NAD+) activity; and thyroid hormone binding activity. Involved in Harderian gland development; embryonic camera-type eye development; and nose development. Acts upstream of or within several processes, including embryonic organ morphogenesis; nucleus accumbens development; and olfactory pit development. Located in cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; limb; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in isolated microphthalmia 8. Orthologous to human ALDH1A3 (aldehyde dehydrogenase 1 family member A3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in placenta adult (RPKM 9.8), bladder adult (RPKM 6.2) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 C; 7 35.73 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (66040640..66077225, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (66390892..66427477, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ALDH1A1 and ALDH1A3 paralogues of aldehyde dehydrogenase 1 control myogenic differentiation of skeletal muscle satellite cells by retinoic acid-dependent and -independent mechanisms.
Title: ALDH1A1 and ALDH1A3 paralogues of aldehyde dehydrogenase 1 control myogenic differentiation of skeletal muscle satellite cells by retinoic acid-dependent and -independent mechanisms.
ALDH1A3 Coordinates Metabolism With Gene Regulation in Pulmonary Arterial Hypertension.
Title: ALDH1A3 Coordinates Metabolism With Gene Regulation in Pulmonary Arterial Hypertension.
microRNA-483 Protects Pancreatic beta-Cells by Targeting ALDH1A3.
Title: microRNA-483 Protects Pancreatic β-Cells by Targeting ALDH1A3.
Study using human SH-SY5Y neuroblastoma and 293T cells and transgenic mouse model show that CHD7 directly regulates expression of retinoic acid synthetic enzyme ALDH1A3. Results indicate that ALDH1A3 acts with CHD7 in a common genetic pathway to regulate inner ear development, providing insights for exploration of the pathogenic mechanisms underlying CHARGE syndrome.
Title: CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development.
Study in diabetic mice reports the discovery of ALDH1A3 isoform as a biomarker of dysfunctional beta cells.
Title: Aldehyde dehydrogenase 1a3 defines a subset of failing pancreatic β cells in diabetic mice.
This study identifies Sam68 as a key regulator of neural progenitor cell self-renewal and establishes a novel link between modulation of ALDH1A3 expression and maintenance of high glycolytic metabolism in the developing cortex.
Title: Sam68 promotes self-renewal and glycolytic metabolism in mouse neural progenitor cells by modulating Aldh1a3 pre-mRNA 3'-end processing.
Chromatin immunoprecipitation assay using RarB as the immunoprecipitation target suggests retinoic acid regulation of Aldh1a3 and Foxn1 in mice.
Title: Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum Disorders.
Data suggest that expression of Aldh1a3/Raldh3 in placenta plays role in differentiation/placentation of glycogen trophoblast cells (junctional zone cells) via production of a local source of retinoic acid.
Title: Expression of aldehyde dehydrogenase family 1, member A3 in glycogen trophoblast cells of the murine placenta.
Raldh1 and Raldh3 influence enteric nervous system structure and function and heterozygosity for Raldh2 causes ENS defects
Title: Retinaldehyde dehydrogenase enzymes regulate colon enteric nervous system structure and function.
ALDH1A3 and ALDH2 expression was detectable in ALDH(very-br) and ALDH(br) cells, unlike ALDH(dim) cells, albeit at lower levels compared with ALDH1A1 and ALDH1A2.
Title: Characterization of cardiac-resident progenitor cells expressing high aldehyde dehydrogenase activity.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC283541P1 (e-PCR)
- UniSTS:272407

20.MMHAP47FLG2.seq (e-PCR)
- UniSTS:123475

Aldh1a3 (e-PCR), detects polymorphism
- UniSTS:506722

Aldh1a3 (e-PCR), detects polymorphism
- UniSTS:525744

Aldh1a3 (e-PCR), detects polymorphism
- UniSTS:547811

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3-chloroallyl aldehyde dehydrogenase activity	TAS Traceable Author Statement more info	PubMed
enables NAD+ binding	IDA Inferred from Direct Assay more info	PubMed
enables aldehyde dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables aldehyde dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables aldehyde dehydrogenase [NAD(P)+] activity	IDA Inferred from Direct Assay more info	PubMed
enables aldehyde dehydrogenase [NAD(P)+] activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables retinal dehydrogenase activity	ISO Inferred from Sequence Orthology more info
enables retinal dehydrogenase activity	ISS Inferred from Sequence or Structural Similarity more info
enables thyroid hormone binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Harderian gland development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic camera-type eye development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in embryonic camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic eye morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic eye morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within face development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nose development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nucleus accumbens development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within olfactory pit development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within optic cup morphogenesis involved in camera-type eye development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of retinoic acid receptor signaling pathway	ISO Inferred from Sequence Orthology more info	PubMed
involved_in protein homotetramerization	ISO Inferred from Sequence Orthology more info
involved_in protein homotetramerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in retinal metabolic process	IEA Inferred from Electronic Annotation more info
involved_in retinal metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within retinoic acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinoic acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinoic acid biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within retinoic acid metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within retinoic acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinoic acid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within righting reflex	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: retinaldehyde dehydrogenase 3

Names: RALDH-3; aldehyde dehydrogenase family 1 member A3; aldehyde dehydrogenase-6

NP_444310.3

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.

mRNA and Protein(s)

NM_053080.3 → NP_444310.3 retinaldehyde dehydrogenase 3

Status: VALIDATED

Source sequence(s)

AK147006, BC038646

Consensus CDS

CCDS21345.1

UniProtKB/Swiss-Prot

Q9EQP7, Q9JHW9, Q9JI72

UniProtKB/TrEMBL

Q3UIA4

Related

ENSMUSP00000015278.8, ENSMUST00000015278.15

Conserved Domains (1) summary

cd07141
Location:26 → 506

ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like