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    Mdh1 malate dehydrogenase 1, NAD (soluble) [ Mus musculus (house mouse) ]

    Gene ID: 17449, updated on 12-Aug-2018

    Summary

    Official Symbol
    Mdh1provided by MGI
    Official Full Name
    malate dehydrogenase 1, NAD (soluble)provided by MGI
    Primary source
    MGI:MGI:97051
    See related
    Ensembl:ENSMUSG00000020321 Vega:OTTMUSG00000005249
    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
    MDHA; Mor2; MDH-s; Mor-2; D17921; B230377B03Rik
    Summary
    This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. A pseudogene has been identified on chromosomes 12. [provided by RefSeq, Feb 2016]
    Expression
    Broad expression in heart adult (RPKM 659.3), kidney adult (RPKM 388.2) and 24 other tissues See more
    Orthologs

    Genomic context

    See Mdh1 in Genome Data Viewer
    Location:
    11 A3.1; 11 13.89 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 11 NC_000077.6 (21556692..21571934, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (21456695..21471937, complement)

    Chromosome 11 - NC_000077.6Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4932414J04 gene Neighboring gene predicted gene 12046 Neighboring gene WD repeat containing planar cell polarity effector Neighboring gene phosphoglycerate mutase 1, pseudogene 1 Neighboring gene myc induced nuclear antigen pseudogene

    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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (other) (1) 
    • Chemically and radiation induced (3) 
    • Radiation induced (1) 
    • Chemically induced (ENU) (7)  1 citation

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    L-malate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    L-malate dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    NAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    malate dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    NAD metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    NADH metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    NADH metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    carboxylic acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    malate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    malate metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    oxaloacetate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxaloacetate metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    tricarboxylic acid cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    mitochondrion HDA PubMed 
    myelin sheath IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    malate dehydrogenase, cytoplasmic; malate dehydrogenase, peroxisomal
    Names
    cytosolic malate dehydrogenase
    malate dehydrogenase, soluble
    NP_001303604.1
    NP_032644.3

    NCBI Reference Sequences (RefSeq)

    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_001316675.1NP_001303604.1  malate dehydrogenase, peroxisomal isoform Mdh1x

      Status: REVIEWED

      Description
      Transcript Variant: This transcript (1) encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (Mdh1) results from translation termination at the upstream UGA stop codon, while the longer isoform (Mdh1x) results from UGA stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the longer, C-terminally extended isoform (Mdh1x), which is localized in the peroxisomes. As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.
      Source sequence(s)
      AK005237, BC050940, BY586895, CA559418
      UniProtKB/Swiss-Prot
      P14152
      Conserved Domains (2) summary
      TIGR01759
      Location:2327
      MalateDH-SF1; malate dehydrogenase
      cd01336
      Location:3328
      MDH_cytoplasmic_cytosolic; Cytoplasmic and cytosolic Malate dehydrogenases
    2. NM_008618.3NP_032644.3  malate dehydrogenase, cytoplasmic isoform Mdh1

      See identical proteins and their annotated locations for NP_032644.3

      Status: REVIEWED

      Description
      Transcript Variant: This transcript (1) encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (Mdh1) results from translation termination at the upstream UGA stop codon, while the longer isoform (Mdh1x) results from UGA stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the shorter isoform (Mdh1), which is localized in the cytosol.
      Source sequence(s)
      AK005237, BC050940, BY586895, CA559418
      Consensus CDS
      CCDS24466.1
      UniProtKB/Swiss-Prot
      P14152
      Related
      ENSMUSP00000099938.4, OTTMUSP00000005426, ENSMUST00000102874.10, OTTMUST00000011704
      Conserved Domains (1) summary
      cd01336
      Location:3328
      MDH_cytoplasmic_cytosolic; Cytoplasmic and cytosolic Malate dehydrogenases

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000077.6 Reference GRCm38.p4 C57BL/6J

      Range
      21556692..21571934 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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