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MDH1 malate dehydrogenase 1 [ Homo sapiens (human) ]

Gene ID: 4190, updated on 10-Dec-2019

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
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
MDHA; MOR2; MDH-s; 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

Genomic context

See MDH1 in Genome Data Viewer
Location:
2p15
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (63588963..63607197)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (63815743..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 mitochondrial fission regulator 2 pseudogene Neighboring gene PRELI domain-containing protein 1, mitochondrial pseudogene 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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-malate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NAD binding IEA
Inferred from Electronic Annotation
more info
 
diiodophenylpyruvate reductase activity IEA
Inferred from Electronic Annotation
more info
 
malic enzyme activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
NAD metabolic process IEA
Inferred from Electronic Annotation
more info
 
NADH metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gluconeogenesis TAS
Traceable Author Statement
more info
 
malate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxaloacetate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tricarboxylic acid cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular space HDA PubMed 

General protein information

Preferred Names
malate dehydrogenase, cytoplasmic; malate dehydrogenase, peroxisomal
Names
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)

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_001199111.1NP_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)
    AK295931, BC001484, BI667299
    Consensus CDS
    CCDS56121.1
    UniProtKB/Swiss-Prot
    P40925
    Conserved Domains (2) summary
    TIGR01759
    Location:20345
    MalateDH-SF1; malate dehydrogenase
    cd01336
    Location:21346
    MDH_cytoplasmic_cytosolic; Cytoplasmic and cytosolic Malate dehydrogenases
  2. NM_001199112.1NP_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)
    AK300719, BC001484, BI667299
    Consensus CDS
    CCDS56122.1
    UniProtKB/Swiss-Prot
    P40925
    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
    UniProtKB/Swiss-Prot
    P40925
    Related
    ENSP00000438144.2, ENST00000539945.6
    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
    P40925
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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