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Aldh7a1 aldehyde dehydrogenase family 7, member A1 [ Mus musculus (house mouse) ]

Gene ID: 110695, updated on 2-Nov-2024

Summary

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Official Symbol
Aldh7a1provided by MGI
Official Full Name
aldehyde dehydrogenase family 7, member A1provided by MGI
Primary source
MGI:MGI:108186
See related
Ensembl:ENSMUSG00000053644 AllianceGenome:MGI:108186
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
Atq1; D18Wsu181e
Summary
Predicted to enable betaine-aldehyde dehydrogenase (NAD+) activity and identical protein binding activity. Predicted to be involved in glycine betaine biosynthetic process from choline. Located in mitochondrion. Is expressed in several structures, including alimentary system; metanephros; nervous system; respiratory system; and sensory organ. Used to study pyridoxine-dependent epilepsy. Human ortholog(s) of this gene implicated in early-onset vitamin B6-dependent epilepsy 4. Orthologous to human ALDH7A1 (aldehyde dehydrogenase 7 family member A1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in placenta adult (RPKM 56.9), liver adult (RPKM 51.3) and 23 other tissues See more
Orthologs
human all
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Genomic context

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See Aldh7a1 in Genome Data Viewer
Location:
18 D3; 18 30.55 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (56657794..56706112, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (56524722..56572991, complement)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930511P09 gene Neighboring gene GRAM domain containing 2B Neighboring gene STARR-positive B cell enhancer ABC_E11659 Neighboring gene STARR-positive B cell enhancer ABC_E8927 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:56615334-56615595 Neighboring gene STARR-seq mESC enhancer starr_44663 Neighboring gene glutamate-ammonia ligase (glutamine synthetase) pseudogene Neighboring gene STARR-seq mESC enhancer starr_44664 Neighboring gene microRNA 1258 Neighboring gene phosphorylated adaptor for RNA export Neighboring gene sperm microtubule inner protein 10 Neighboring gene predicted gene, 50288

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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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Related articles in PubMed

  1. Disrupted de novo pyrimidine biosynthesis impairs adult hippocampal neurogenesis and cognition in pyridoxine-dependent epilepsy. Yan J, et al. Sci Adv, 2024 Apr 5. PMID 38579001, Free PMC Article
  2. A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency. Al-Shekaili HH, et al. Hum Mol Genet, 2020 Nov 25. PMID 32969477, Free PMC Article
  3. Identification of sequence elements in mouse calbindin-D28k gene that confer 1,25-dihydroxyvitamin D3- and butyrate-inducible responses. Gill RK, et al. Proc Natl Acad Sci U S A, 1993 Apr 1. PMID 8464915, Free PMC Article
  4. Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress. Brocker C, et al. J Biol Chem, 2010 Jun 11. PMID 20207735, Free PMC Article
  5. Overall survival of pancreatic ductal adenocarcinoma is doubled by Aldh7a1 deletion in the KPC mouse. Lee JS, et al. Theranostics, 2021. PMID 33537098, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
    Title: A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
  2. Overall survival of pancreatic ductal adenocarcinoma is doubled by Aldh7a1 deletion in the KPC mouse.
    Title: Overall survival of pancreatic ductal adenocarcinoma is doubled by Aldh7a1 deletion in the KPC mouse.
  3. ALDH7A1 is a novel aldehyde dehydrogenase expressed in multiple subcellular compartments that protects against hyperosmotic stress by generating osmolytes and metabolizing toxic aldehydes
    Title: Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress.
  4. The expression intensity for the aldehyde dehydrogenase 7A1 (ALDH7A1) mRNA and protein was significantly higher in C57BL/6 mice than DBA/2 mice.
    Title: Gene array profiles of alcohol and aldehyde metabolizing enzymes in brains of C57BL/6 and DBA/2 mice.
Submit: New GeneRIF Correction

Variation

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Alleles

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

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

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables L-aminoadipate-semialdehyde dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
enables aldehyde dehydrogenase (NAD+) activity ISO
Inferred from Sequence Orthology
more info
  
enables aldehyde dehydrogenase (NAD+) activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables betaine-aldehyde dehydrogenase (NAD+) activity ISO
Inferred from Sequence Orthology
more info
  
enables betaine-aldehyde dehydrogenase (NAD+) activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in glycine betaine biosynthetic process from choline IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrion HDA PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
alpha-aminoadipic semialdehyde dehydrogenase
Names
P6c dehydrogenase
aldehyde dehydrogenase 7 family, member A1
alpha-AASA dehydrogenase
antiquitin-1
betaine aldehyde dehydrogenase
delta1-piperideine-6-carboxylate dehydrogenase
delta1-piperideine-6-carboxylate dehydrogenease
NP_001120810.1
NP_613066.2

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)

  1. NM_001127338.1 → NP_001120810.1  alpha-aminoadipic semialdehyde dehydrogenase isoform b

    See identical proteins and their annotated locations for NP_001120810.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (b) is shorter than isoform a.
    Source sequence(s)
    AK004991, CJ156580
    Consensus CDS
    CCDS50291.1
    UniProtKB/TrEMBL
    G3UYR8
    Related
    ENSMUSP00000133372.2, ENSMUST00000174518.8
    Conserved Domains (1) summary
    cd07130
    Location:25 → 499
    ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B

  2. NM_138600.4 → NP_613066.2  alpha-aminoadipic semialdehyde dehydrogenase isoform a

    See identical proteins and their annotated locations for NP_613066.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AK004991, AK169195, BY017676
    Consensus CDS
    CCDS29258.2
    UniProtKB/Swiss-Prot
    Q3TFC7, Q3TVH7, Q3UKT6, Q9DBF1
    UniProtKB/TrEMBL
    G3UYR8
    Related
    ENSMUSP00000065089.7, ENSMUST00000066208.13
    Conserved Domains (1) summary
    cd07130
    Location:53 → 527
    ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000084.7 Reference GRCm39 C57BL/6J

    Range
    56657794..56706112 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_003952489.2 RNA Sequence

  2. XR_385969.5 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9DBF1.4 GenPept UniProtKB/Swiss-Prot:Q9DBF1

Gene LinkOut

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