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

    Gene ID: 17449, updated on 28-Oct-2024

    Summary

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    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 AllianceGenome:MGI:97051
    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
    KAR; MDHA; Mor2; MDH-s; Mor-2; 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
    human all
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    Genomic context

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    See Mdh1 in Genome Data Viewer
    Location:
    11 A3.1; 11 13.89 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (21506692..21521934, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (21556692..21571934, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4932414J04 gene Neighboring gene predicted gene 12046 Neighboring gene STARR-positive B cell enhancer ABC_E6958 Neighboring gene STARR-seq mESC enhancer starr_28848 Neighboring gene STARR-seq mESC enhancer starr_28849 Neighboring gene WD repeat containing planar cell polarity effector Neighboring gene phosphoglycerate mutase 1, pseudogene 1 Neighboring gene STARR-seq mESC enhancer starr_28851 Neighboring gene STARR-seq mESC enhancer starr_28853 Neighboring gene myc induced nuclear antigen pseudogene

    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. Structural organization of the mouse cytosolic malate dehydrogenase gene: comparison with that of the mouse mitochondrial malate dehydrogenase gene. Setoyama C, et al. J Mol Biol, 1988 Aug 5. PMID 3172222
    2. Subunit structure and gene control of mouse NADP-malate dehydrogenase. Baker WW, et al. Biochem Genet, 1969 Jan. PMID 5770240
    3. O-GlcNAcylation promotes pancreatic tumor growth by regulating malate dehydrogenase 1. Zhu Q, et al. Nat Chem Biol, 2022 Oct. PMID 35879546
    4. Role of cytosolic malate dehydrogenase in oocyte maturation and embryo development. Yoon SJ, et al. Fertil Steril, 2006 Oct. PMID 16962111
    5. MDH1-mediated malate-aspartate NADH shuttle maintains the activity levels of fetal liver hematopoietic stem cells. Gu H, et al. Blood, 2020 Jul 30. PMID 32396938, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. O-GlcNAcylation promotes pancreatic tumor growth by regulating malate dehydrogenase 1.
      Title: O-GlcNAcylation promotes pancreatic tumor growth by regulating malate dehydrogenase 1.
    2. These findings provide strong evidence that MDH1 plays a critical role in osteoclast differentiation and function via modulation of the intracellular energy status, which might affect AMPK activity and NFATc1 expression.
      Title: Cytosolic malate dehydrogenase regulates RANKL-mediated osteoclastogenesis via AMPK/c-Fos/NFATc1 signaling.
    3. adipogenic differentiation may be regulated by the acetylation of MDH1
      Title: Acetylation of malate dehydrogenase 1 promotes adipogenic differentiation via activating its enzymatic activity.
    4. Mor2 is an essential factor for oocyte maturation and embryo development in mouse.
      Title: Role of cytosolic malate dehydrogenase in oocyte maturation and embryo development.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically and radiation induced (3) 
    • Chemically induced (ENU) (7)  1 citation
    • Chemically induced (other) (1) 
    • Endonuclease-mediated (6) 
    • Radiation induced (1) 

    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-malate dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-malate dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-malate dehydrogenase (NAD+) activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables L-malate dehydrogenase (NAD+) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables NAD binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydroxyphenylpyruvate reductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables malate dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in NAD metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in NADH metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in NADH metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in NADP metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in gluconeogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in glyceraldehyde-3-phosphate biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in malate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in malate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in malate metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in malate-aspartate shuttle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in oxaloacetate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in oxaloacetate metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in tricarboxylic acid cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in myelin sheath HDA PubMed 

    General protein information

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    Preferred Names
    malate dehydrogenase, cytoplasmic; malate dehydrogenase, peroxisomal
    Names
    aromatic alpha-keto acid reductase
    cytosolic malate dehydrogenase
    malate dehydrogenase, soluble
    NP_001303604.1
    NP_032644.3

    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_001316675.1 → NP_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
      Consensus CDS
      CCDS88135.1
      UniProtKB/TrEMBL
      A0A5F8MPN8
      Related
      ENSMUSP00000159049.2, ENSMUST00000238916.2
      Conserved Domains (2) summary
      TIGR01759
      Location:2 → 327
      MalateDH-SF1; malate dehydrogenase
      cd01336
      Location:3 → 328
      MDH_cytoplasmic_cytosolic; Cytoplasmic and cytosolic Malate dehydrogenases

    2. NM_008618.3 → NP_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, Q3TP22, Q80Y13, Q9DB45
      Related
      ENSMUSP00000159017.2, ENSMUST00000239073.2
      Conserved Domains (1) summary
      cd01336
      Location:3 → 328
      MDH_cytoplasmic_cytosolic; Cytoplasmic and cytosolic Malate dehydrogenases

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      21506692..21521934 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P14152.3 GenPept UniProtKB/Swiss-Prot:P14152

    Gene LinkOut

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