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MDH1 (malate dehydrogenase 1, NAD (soluble))

Identity

Other namesHEL-S-32
MDH-s
MDHA
MGC:1375
MOR2
HGNC (Hugo) MDH1
LocusID (NCBI) 4190
Location 2p15
Location_base_pair Starts at 63816285 and ends at 63834330 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)MDH1   6970
Cards
Entrez_Gene (NCBI)MDH1  4190  malate dehydrogenase 1, NAD (soluble)
GeneCards (Weizmann)MDH1
Ensembl (Hinxton)ENSG00000014641 [Gene_View]  chr2:63816285-63834330 [Contig_View]  MDH1 [Vega]
ICGC DataPortalENSG00000014641
cBioPortalMDH1
AceView (NCBI)MDH1
Genatlas (Paris)MDH1
WikiGenes4190
SOURCE (Princeton)NM_001199111 NM_001199112 NM_005917
Genomic and cartography
GoldenPath (UCSC)MDH1  -  2p15   chr2:63816285-63834330 +  2p15   [Description]    (hg19-Feb_2009)
EnsemblMDH1 - 2p15 [CytoView]
Mapping of homologs : NCBIMDH1 [Mapview]
OMIM154200   
Gene and transcription
Genbank (Entrez)AK295931 AK300719 AK307273 AK312331 BC001484
RefSeq transcript (Entrez)NM_001199111 NM_001199112 NM_005917
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NT_022184 NW_001838769 NW_004929300
Consensus coding sequences : CCDS (NCBI)MDH1
Cluster EST : UnigeneHs.526521 [ NCBI ]
CGAP (NCI)Hs.526521
Alternative Splicing : Fast-db (Paris)GSHG0016500
Alternative Splicing GalleryENSG00000014641
Gene ExpressionMDH1 [ NCBI-GEO ]     MDH1 [ SEEK ]   MDH1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP40925 (Uniprot)
NextProtP40925  [Medical]
With graphics : InterProP40925
Splice isoforms : SwissVarP40925 (Swissvar)
Catalytic activity : Enzyme1.1.1.37 [ Enzyme-Expasy ]   1.1.1.371.1.1.37 [ IntEnz-EBI ]   1.1.1.37 [ BRENDA ]   1.1.1.37 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)MDH (PS00068)   
Domains : Interpro (EBI)L-lactate/malate_DH [organisation]   Lactate/malate_DH_C [organisation]   Lactate/malate_DH_N [organisation]   Lactate_DH/Glyco_Ohase_4_C [organisation]   Malate_DH_AS [organisation]   Malate_DH_NAD-dep_euk [organisation]   Malate_DH_type2 [organisation]   NAD(P)-bd_dom [organisation]  
Related proteins : CluSTrP40925
Domain families : Pfam (Sanger)Ldh_1_C (PF02866)    Ldh_1_N (PF00056)   
Domain families : Pfam (NCBI)pfam02866    pfam00056   
DMDM Disease mutations4190
Blocks (Seattle)P40925
Human Protein AtlasENSG00000014641 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP40925
HPRD01100
IPIIPI00916111   IPI00952583   IPI00915869   IPI00916253   IPI00917560   IPI00916551   IPI00916676   IPI00916861   
Protein Interaction databases
DIP (DOE-UCLA)P40925
IntAct (EBI)P40925
FunCoupENSG00000014641
BioGRIDMDH1
InParanoidP40925
Interologous Interaction database P40925
IntegromeDBMDH1
STRING (EMBL)MDH1
Ontologies - Pathways
Ontology : AmiGOmalic enzyme activity  extracellular space  cytoplasm  mitochondrion  centrosome  cytosol  carbohydrate metabolic process  glucose metabolic process  gluconeogenesis  tricarboxylic acid cycle  oxaloacetate metabolic process  malate metabolic process  NADH metabolic process  L-malate dehydrogenase activity  cellular carbohydrate metabolic process  small molecule metabolic process  diiodophenylpyruvate reductase activity  NAD binding  extracellular vesicular exosome  
Ontology : EGO-EBImalic enzyme activity  extracellular space  cytoplasm  mitochondrion  centrosome  cytosol  carbohydrate metabolic process  glucose metabolic process  gluconeogenesis  tricarboxylic acid cycle  oxaloacetate metabolic process  malate metabolic process  NADH metabolic process  L-malate dehydrogenase activity  cellular carbohydrate metabolic process  small molecule metabolic process  diiodophenylpyruvate reductase activity  NAD binding  extracellular vesicular exosome  
Pathways : BIOCARTAShuttle for transfer of acetyl groups from mitochondria to the cytosol [Genes]    Malate-aspartate shuttle [Genes]   
Pathways : KEGGCitrate cycle (TCA cycle)    Cysteine and methionine metabolism    Pyruvate metabolism    Glyoxylate and dicarboxylate metabolism    Proximal tubule bicarbonate reclamation   
Protein Interaction DatabaseMDH1
Wikipedia pathwaysMDH1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MDH1
snp3D : Map Gene to Disease4190
SNP (GeneSNP Utah)MDH1
SNP : HGBaseMDH1
Genetic variants : HAPMAPMDH1
Exome VariantMDH1
1000_GenomesMDH1 
ICGC programENSG00000014641 
Somatic Mutations in Cancer : COSMICMDH1 
CONAN: Copy Number AnalysisMDH1 
Mutations and Diseases : HGMDMDH1
Genomic VariantsMDH1  MDH1 [DGVbeta]
dbVarMDH1
ClinVarMDH1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM154200   
MedgenMDH1
GENETestsMDH1
Disease Genetic AssociationMDH1
Huge Navigator MDH1 [HugePedia]  MDH1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneMDH1
Homology/Alignments : Family Browser (UCSC)MDH1
Phylogenetic Trees/Animal Genes : TreeFamMDH1
Chemical/Protein Interactions : CTD4190
Chemical/Pharm GKB GenePA30714
Clinical trialMDH1
Cancer Resource (Charite)ENSG00000014641
Other databases
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
CoreMineMDH1
iHOPMDH1
OncoSearchMDH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 14:04:39 CEST 2014

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