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

Gene ID: 17449, updated on 1-Mar-2024

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 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
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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
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

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 Functions

What'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
  • Endonuclease-mediated (6) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables L-malate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables L-malate dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables L-malate dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables L-malate dehydrogenase activity ISO
Inferred from Sequence Orthology
more info
 
enables NAD binding ISO
Inferred from Sequence Orthology
more info
 
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
 
enables diiodophenylpyruvate reductase activity IEA
Inferred from Electronic Annotation
more info
 
enables malate dehydrogenase activity ISO
Inferred from Sequence Orthology
more info
 
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
enables 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
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 carboxylic acid metabolic process IEA
Inferred from Electronic Annotation
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 ISO
Inferred from Sequence Orthology
more info
 
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
 
acts_upstream_of_or_within 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

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_001316675.1NP_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
    Consensus CDS
    CCDS88135.1
    UniProtKB/TrEMBL
    A0A5F8MPN8
    Related
    ENSMUSP00000159049.2, ENSMUST00000238916.2
    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, Q3TP22, Q80Y13, Q9DB45
    Related
    ENSMUSP00000159017.2, ENSMUST00000239073.2
    Conserved Domains (1) summary
    cd01336
    Location:3328
    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)