MDH1 malate dehydrogenase 1, NAD (soluble) [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: MDH1provided by HGNC
Official Full Name: malate dehydrogenase 1, NAD (soluble)provided by HGNC
Primary source: HGNC:6970
See related: Ensembl:ENSG00000014641; HPRD:01100; MIM:154200; Vega:OTTHUMG00000129512
Gene type: protein coding
RefSeq status: VALIDATED
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; MGC:1375
Summary: Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the cytoplasm and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Nov 2010]

Help top of page

Genomic context

Location :: 2p13.3

Sequence :: Chromosome: 2; NC_000002.11 (63815743..63834331)

See MDH1 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
The MDH1 gene is not the cause of RP28-linked autosomal recessive retinitis pigmentosa.
Title: Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.
Malate Dehydrogenase directly regulates the Tumor Suppressor Protein p53-dependent apoptosis upon glucose deprivation and involved in maintaining cellular metabolic state and further determining cell death.
Title: A nucleocytoplasmic malate dehydrogenase regulates p53 transcriptional activity in response to metabolic stress.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.
This protein has been found differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
Title: Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.
expression of MDH1 is maintained in the adult heart but is not present in levels as high as in the fetus
Title: Developmental regulation and cellular distribution of human cytosolic malate dehydrogenase (MDH1).

Submit: New GeneRIF Correction

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
P40925	P21695	GPD1	HPRD	PubMed
P40925	P40925	MDH1	HPRD	PubMed
P40925	Q13368	MPP3	HPRD	PubMed
BioGRID:110355	BioGRID:108276	EGFR	BioGRID	PubMed	PCA
BioGRID:110355	BioGRID:110496	MPP3	BioGRID	PubMed	Two-hybrid
BioGRID:110355	BioGRID:113010	TP53	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110355	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
L-malate dehydrogenase activity	TAS Traceable Author Statement more info
malic enzyme activity	TAS Traceable Author Statement more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info
oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
carbohydrate metabolic process	TAS Traceable Author Statement more info
cellular carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
gluconeogenesis	TAS Traceable Author Statement more info
glucose metabolic process	TAS Traceable Author Statement more info
malate metabolic process	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info
tricarboxylic acid cycle	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
centrosome	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info

General protein information

Preferred Names: malate dehydrogenase, cytoplasmic

Names: malate dehydrogenase, cytoplasmic; soluble malate dehydrogenase; cytosolic malate dehydrogenase

NP_001186040.1

EC 1.1.1.37

NP_001186041.1

EC 1.1.1.37

NP_005908.1

EC 1.1.1.37

Help top of page

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)

NM_001199111.1 → NP_001186040.1 malate dehydrogenase, cytoplasmic isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AK295931, BC001484, BI667299

Consensus CDS

CCDS56121.1

UniProtKB/TrEMBL

B7Z3I7

UniProtKB/TrEMBL

F5H098

UniProtKB/Swiss-Prot

P40925

Related

ENSP00000438144, ENST00000539945

Conserved Domains (2) summary

TIGR01759
Location:20 – 345
Blast Score: 1391

MalateDH-SF1; malate dehydrogenase

cd01336
Location:21 – 346
Blast Score: 1726

MDH_cytoplasmic_cytosolic; Cytoplasmic and cytosolic Malate dehydrogenases
NM_001199112.1 → NP_001186041.1 malate dehydrogenase, cytoplasmic isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an exon in the 5' region, resulting in a downstream AUG start codon compared to variant 1. The resulting isoform (3) has a shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AK300719, BC001484, BI667299

Consensus CDS

CCDS56122.1

UniProtKB/Swiss-Prot

P40925

Related

ENSP00000446395, ENST00000544381

Conserved Domains (1) summary

cd01336
Location:1 – 239
Blast Score: 1289

MDH_cytoplasmic_cytosolic; Cytoplasmic and cytosolic Malate dehydrogenases
NM_005917.3 → NP_005908.1 malate dehydrogenase, cytoplasmic isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate 5' exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, as compared to isoform 1.

Source sequence(s)

BC001484, CB266998

Consensus CDS

CCDS1874.1

UniProtKB/Swiss-Prot

P40925

Related

ENSP00000233114, OTTHUMP00000159898, ENST00000233114, OTTHUMT00000251687

Conserved Domains (2) summary

TIGR01759
Location:2 – 327
Blast Score: 1386

MalateDH-SF1; malate dehydrogenase

cd01336
Location:3 – 328
Blast Score: 1722

MDH_cytoplasmic_cytosolic; Cytoplasmic and cytosolic Malate dehydrogenases

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

63815743..63834331

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

63556773..63575326

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC016734.7	AAY14893.1
genomic	CH471053.2	EAW99959.1
		EAW99960.1
		EAW99961.1
		EAW99962.1
		EAW99963.1
mRNA	AK295931.1	BAH12223.1
mRNA	AK300719.1	BAG62394.1
mRNA	AK307273.1	None
mRNA	AK312331.1	BAG35252.1
mRNA	BC001484.2	AAH01484.1
mRNA	BI667299.1	None
mRNA	CB266998.1	None
mRNA	CR457405.1	CAG33686.1
mRNA	D55654.1	BAA09513.1
mRNA	U20352.1	AAC16436.1