Aldh1a1 aldehyde dehydrogenase family 1, subfamily A1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aldh1a1provided by MGI
Official Full Name: aldehyde dehydrogenase family 1, subfamily A1provided by MGI
Primary source: MGI:MGI:1353450
See related: Ensembl:ENSMUSG00000053279 AllianceGenome:MGI:1353450
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: E1; Ahd2; Ahd-2; Aldh1; ALHDII; Raldh1; ALDH-E1; Aldh1a2
Summary: Enables 3-chloroallyl aldehyde dehydrogenase activity and aminobutyraldehyde dehydrogenase activity. Involved in gamma-aminobutyric acid biosynthetic process and negative regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including optic cup morphogenesis involved in camera-type eye development; positive regulation of apoptotic process; and retinoid metabolic process. Located in axon and synapse. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Orthologous to human ALDH1A1 (aldehyde dehydrogenase 1 family member A1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver adult (RPKM 141.6), genital fat pad adult (RPKM 125.0) and 12 other tissues See more
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Genomic context

Location:: 19 B; 19 13.91 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (20469947..20620827)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (20492583..20643463)

Chromosome 19 - NC_000085.7 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: 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.
ALDH1A1 overexpression in melanoma cells promotes tumor angiogenesis by activating the IL8/Notch signaling cascade.
Title: ALDH1A1 overexpression in melanoma cells promotes tumor angiogenesis by activating the IL‑8/Notch signaling cascade.
Global Deletion of ALDH1A1 and ALDH1A2 Genes Does Not Affect Viability but Blocks Spermatogenesis.
Title: Global Deletion of ALDH1A1 and ALDH1A2 Genes Does Not Affect Viability but Blocks Spermatogenesis.
Fli1 deficiency suppresses RALDH1 activity of dermal dendritic cells and related induction of regulatory T cells: a possible role in scleroderma.
Title: Fli1 deficiency suppresses RALDH1 activity of dermal dendritic cells and related induction of regulatory T cells: a possible role in scleroderma.
ALDH1A1 regulates postsynaptic mu-opioid receptor expression in dorsal striatal projection neurons and mitigates dyskinesia through transsynaptic retinoic acid signaling.
Title: ALDH1A1 regulates postsynaptic μ-opioid receptor expression in dorsal striatal projection neurons and mitigates dyskinesia through transsynaptic retinoic acid signaling.
A reporter construct for self-renewing cancer stem cells (CSCs), based on ALDH1A1 expression. Oral cancer cells harboring ALDH1A1-DsRed2 were used to screen inhibitors that target CSCs.
Title: A novel reporter construct for screening small molecule inhibitors that specifically target self-renewing cancer cells.
These results suggest that retinoic acids produced by Aldh1a1 in the neural retina directs dorsal choroidal vascular development via Sox9 upregulation in the dorsal retinal pigment epithelial cells to enhance retinal pigment epithelial-derived VEGF secretion.
Title: Neural retina-specific Aldh1a1 controls dorsal choroidal vascular development via Sox9 expression in retinal pigment epithelial cells.
Finally, ATRA replacement suppressed 15-PGDH inhibition-induced tumor progression in KC mice, and ATRA treatment attenuated Aldh1 activity in tumor cells isolated from the pancreas of 15-Pgdh(-/-) KC mice. These findings provide evidence that 15-PGDH inhibition enhances KRAS-driven tumor progression via ATRA depletion in the pancreas. Therefore, ATRA replacement could be a potential strategy for PDAC treatment.
Title: Inhibition of 15-PGDH causes Kras-driven tumor expansion through prostaglandin E2-ALDH1 signaling in the pancreas.
Data indicate involvement of non-POU domain-containing octamer-binding protein (NONO)/paraspeckle protein component 1 (PSPC1)-aldehyde dehydrogenase 1 (NONO/PSPC1-ALDH1A1) in the modulation of Sertoli cells (SCs) response to mono-(2-ethylhexyl) phthalate (MEHP) challenge.
Title: Synergistic upregulation of NONO and PSPC1 regulates Sertoli cell response to MEHP via modulation of ALDH1A1 signaling.
In ovaries lacking ALDH1A1, the onset of germ cell meiosis is delayed.
Title: ALDH1A1 provides a source of meiosis-inducing retinoic acid in mouse fetal ovaries.

Submit: New GeneRIF Correction See all GeneRIFs (44)

Variation

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Alleles

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

Targeted (5) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:548361

Aldh1a1 (e-PCR), detects polymorphism
- UniSTS:470549

M74570 (e-PCR)
- UniSTS:124979

Aldh1a1 (e-PCR), detects polymorphism
- UniSTS:525878

Aldh1a1 (e-PCR), detects polymorphism
- UniSTS:525879

Aldh1a1 (e-PCR), detects polymorphism
- UniSTS:186488

Aldh1a1 (e-PCR), detects polymorphism
- UniSTS:461948

Aldh1a1 (e-PCR), detects polymorphism
- UniSTS:525742

Aldh1a1 (e-PCR), detects polymorphism
- UniSTS:508359

M74570 (e-PCR)
- UniSTS:181215

Aldh1a1 (e-PCR), detects polymorphism
- UniSTS:519406

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 1-pyrroline dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables 3-chloroallyl aldehyde dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables 3-deoxyglucosone dehydrogenase activity	ISO Inferred from Sequence Orthology more info
enables NAD binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables aldehyde dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info	PubMed
enables aminobutyraldehyde dehydrogenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables benzaldehyde dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables benzaldehyde dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info
enables glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA Inferred from Electronic Annotation more info
enables retinal dehydrogenase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within 9-cis-retinoic acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in 9-cis-retinoic acid metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular detoxification of aldehyde	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic eye morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in fructosamine catabolic process	ISO Inferred from Sequence Orthology more info
involved_in fructose catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in gamma-aminobutyric acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in maintenance of lens transparency	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cold-induced thermogenesis	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
involved_in response to ethanol	ISO Inferred from Sequence Orthology more info
involved_in response to oxidative stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to xenobiotic stimulus	IDA Inferred from Direct Assay 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	IDA Inferred from Direct Assay more info	PubMed
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 retinoid metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within retinol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: aldehyde dehydrogenase 1A1

Names: 3-deoxyglucosone dehydrogenase; RALDH 1; alcohol dehydrogenase family 1, subfamily A1; alcohol dehydrogenase family 1, subfamily A2; aldehyde dehydrogenase 1, liver cytosolic (class 1); aldehyde dehydrogenase family 1 member A1; aldehyde dehydrogenase, cytosolic; retinal dehydrogenase 1

NP_001348432.1

EC 1.2.1.19

EC 1.2.1.28

EC 1.2.1.3

EC 1.2.1.36

NP_001348433.1

EC 1.2.1.19

EC 1.2.1.28

EC 1.2.1.3

EC 1.2.1.36

NP_001348434.1

EC 1.2.1.19

EC 1.2.1.28

EC 1.2.1.3

EC 1.2.1.36

NP_001348435.1

EC 1.2.1.19

EC 1.2.1.28

EC 1.2.1.3

EC 1.2.1.36

NP_038495.2

EC 1.2.1.19

EC 1.2.1.28

EC 1.2.1.3

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_001361503.1 → NP_001348432.1 aldehyde dehydrogenase 1A1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. All five variants encode the same protein.

Source sequence(s)

AC152162, AC167167

Consensus CDS

CCDS29695.1

UniProtKB/Swiss-Prot

P24549, Q7TQJ0, Q811J0

Conserved Domains (1) summary

cd07141
Location:15 → 495

ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
NM_001361504.1 → NP_001348433.1 aldehyde dehydrogenase 1A1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

AC152162, AC167167

Consensus CDS

CCDS29695.1

UniProtKB/Swiss-Prot

P24549, Q7TQJ0, Q811J0

Conserved Domains (1) summary

cd07141
Location:15 → 495

ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
NM_001361505.1 → NP_001348434.1 aldehyde dehydrogenase 1A1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

AC152162, AC167167

Consensus CDS

CCDS29695.1

UniProtKB/Swiss-Prot

P24549, Q7TQJ0, Q811J0

Conserved Domains (1) summary

cd07141
Location:15 → 495

ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
NM_001361506.1 → NP_001348435.1 aldehyde dehydrogenase 1A1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

AC152162, AC167167

Consensus CDS

CCDS29695.1

UniProtKB/Swiss-Prot

P24549, Q7TQJ0, Q811J0

Related

ENSMUSP00000153410.3, ENSMUST00000225337.3

Conserved Domains (1) summary

cd07141
Location:15 → 495

ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
NM_013467.4 → NP_038495.2 aldehyde dehydrogenase 1A1

See identical proteins and their annotated locations for NP_038495.2

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

AC152162, AC167167

Consensus CDS

CCDS29695.1

UniProtKB/Swiss-Prot

P24549, Q7TQJ0, Q811J0

Related

ENSMUSP00000084918.4, ENSMUST00000087638.4

Conserved Domains (1) summary

cd07141
Location:15 → 495

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