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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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