U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    MDH1 malate dehydrogenase 1 [ Homo sapiens (human) ]

    Gene ID: 4190, updated on 5-May-2024

    Summary

    Official Symbol
    MDH1provided by HGNC
    Official Full Name
    malate dehydrogenase 1provided by HGNC
    Primary source
    HGNC:HGNC:6970
    See related
    Ensembl:ENSG00000014641 MIM:154200; AllianceGenome:HGNC:6970
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KAR; MDHA; MOR2; DEE88; MDH-s; EIEE88; HEL-S-32; MGC:1375
    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. Alternatively spliced transcript variants have been found for this gene. 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. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Feb 2016]
    Expression
    Broad expression in heart (RPKM 313.6), fat (RPKM 131.4) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MDH1 in Genome Data Viewer
    Location:
    2p15
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (63588963..63607197)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (63596617..63614818)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (63816097..63834331)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WD repeat containing planar cell polarity effector Neighboring gene uncharacterized LOC107985769 Neighboring gene MPRA-validated peak3728 silencer Neighboring gene MTFR2 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:63550648-63551224 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:63551225-63551800 Neighboring gene NANOG hESC enhancer GRCh37_chr2:63562934-63563435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15876 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:63814776-63815296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15877 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:63841564-63842426 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:63842427-63843289 Neighboring gene PRELID1 pseudogene 6 Neighboring gene ribosomal protein S4X pseudogene 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-malate dehydrogenase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables L-malate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables diiodophenylpyruvate reductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydroxyphenylpyruvate reductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables malic enzyme activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in NADH metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in NADH metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in NADP metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in gluconeogenesis TAS
    Traceable Author Statement
    more info
     
    involved_in malate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in oxaloacetate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tricarboxylic acid cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 

    General protein information

    Preferred Names
    malate dehydrogenase, cytoplasmic; malate dehydrogenase, peroxisomal
    Names
    aromatic alpha-keto acid reductase
    cytosolic malate dehydrogenase
    diiodophenylpyruvate reductase
    epididymis secretory protein Li 32
    malate dehydrogenase 1, NAD (soluble)
    soluble malate dehydrogenase
    NP_001186040.1
    NP_001186041.1
    NP_001303303.1
    NP_005908.1

    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_001199111.2NP_001186040.1  malate dehydrogenase, cytoplasmic isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a different 5' terminal exon, which results in translation initiation from an alternate start codon compared to variant 1. The encoded isoform (2) is longer with a distinct N-terminus compared to isoform MDH1.
      Source sequence(s)
      AC016734, AK295931, BC001484, BI667299
      Consensus CDS
      CCDS56121.1
      UniProtKB/Swiss-Prot
      P40925
      Related
      ENSP00000410073.2, ENST00000432309.6
      Conserved Domains (2) summary
      TIGR01759
      Location:20345
      MalateDH-SF1; malate dehydrogenase
      cd01336
      Location:21346
      MDH_cytoplasmic_cytosolic; Cytoplasmic and cytosolic Malate dehydrogenases
    2. NM_001199112.2NP_001186041.1  malate dehydrogenase, cytoplasmic isoform 3

      See identical proteins and their annotated locations for NP_001186041.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' region, which results in translation initiation from an in-frame downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform MDH1.
      Source sequence(s)
      AC016734, AK300719, BC001484, BI667299
      UniProtKB/TrEMBL
      B9A041
      Related
      ENSP00000386719.1, ENST00000409476.5
      Conserved Domains (1) summary
      cl21454
      Location:1239
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    3. NM_001316374.2NP_001303303.1  malate dehydrogenase, peroxisomal isoform MDH1x

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and 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)
      BC001484, CB266998
      Consensus CDS
      CCDS92766.1
      UniProtKB/TrEMBL
      A0A5K1VW95
      Related
      ENSP00000438144.3, ENST00000539945.7
      Conserved Domains (2) summary
      TIGR01759
      Location:2327
      MalateDH-SF1; malate dehydrogenase
      cd01336
      Location:3328
      MDH_cytoplasmic_cytosolic; Cytoplasmic and cytosolic Malate dehydrogenases
    4. NM_005917.4NP_005908.1  malate dehydrogenase, cytoplasmic isoform MDH1

      See identical proteins and their annotated locations for NP_005908.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and 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)
      BC001484, CB266998
      Consensus CDS
      CCDS1874.1
      UniProtKB/Swiss-Prot
      B2R5V5, B4DUN2, B7Z3I7, F5H098, P40925, Q6I9V0
      UniProtKB/TrEMBL
      V9HWF2
      Related
      ENSP00000233114.8, ENST00000233114.13
      Conserved Domains (1) summary
      cd01336
      Location:3328
      MDH_cytoplasmic_cytosolic; Cytoplasmic and cytosolic Malate dehydrogenases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      63588963..63607197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      63596617..63614818
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)