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    Aldh6a1 aldehyde dehydrogenase family 6, subfamily A1 [ Mus musculus (house mouse) ]

    Gene ID: 104776, updated on 16-Oct-2021

    Summary

    Official Symbol
    Aldh6a1provided by MGI
    Official Full Name
    aldehyde dehydrogenase family 6, subfamily A1provided by MGI
    Primary source
    MGI:MGI:1915077
    See related
    Ensembl:ENSMUSG00000021238
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mmsdh; 1110038I05Rik
    Summary
    This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded enzyme is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This enzyme catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Mutations in the human gene result in Methylmalonate Semialdehyde Dehydrogenase Deficiency, characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
    Expression
    Broad expression in kidney adult (RPKM 98.0), genital fat pad adult (RPKM 55.1) and 19 other tissues See more
    Orthologs
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    Genomic context

    See Aldh6a1 in Genome Data Viewer
    Location:
    12 D1; 12 39.21 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (84477491..84497798, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (84430717..84451024, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 12 NC_000078.5 (85771667..85791900, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene ectonucleoside triphosphate diphosphohydrolase 5 Neighboring gene ring finger protein 113A2 Neighboring gene basal body orientation factor 1 Neighboring gene lin-52 DREAM MuvB core complex component Neighboring gene visual system homeobox 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC37325

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in beta-alanine catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within brown fat cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in thymine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in thymine catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in thymine metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in valine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in valine catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in valine metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
    Names
    aldehyde dehydrogenase family 6 member A1
    malonate-semialdehyde dehydrogenase
    NP_001300896.1
    NP_598803.1
    XP_017170417.1
    XP_036013042.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001313967.1NP_001300896.1  methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' terminal exon resulting in translation initiation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC120402
      UniProtKB/TrEMBL
      Q8K0L1
      Related
      ENSMUST00000222641.2
      Conserved Domains (1) summary
      cd07085
      Location:1438
      ALDH_F6_MMSDH; Methylmalonate semialdehyde dehydrogenase and ALDH family members 6A1 and 6B2
    2. NM_134042.3NP_598803.1  methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_598803.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK147146, BB849555, BQ176083
      Consensus CDS
      CCDS26046.1
      UniProtKB/Swiss-Prot
      Q9EQ20
      Related
      ENSMUSP00000082288.6, ENSMUST00000085192.7
      Conserved Domains (1) summary
      cd07085
      Location:40516
      ALDH_F6_MMSDH; Methylmalonate semialdehyde dehydrogenase and ALDH family members 6A1 and 6B2

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      84477491..84497798 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036157149.1XP_036013042.1  methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform X1

      Conserved Domains (1) summary
      cd07085
      Location:38491
      ALDH_F6_MMSDH; Methylmalonate semialdehyde dehydrogenase and ALDH family members 6A1 and 6B2
    2. XM_017314928.3XP_017170417.1  methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform X2

      Conserved Domains (1) summary
      cd07085
      Location:1362
      ALDH_F6_MMSDH; Methylmalonate semialdehyde dehydrogenase and ALDH family members 6A1 and 6B2
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