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MDH1 (malate dehydrogenase 1)

Identity

Alias_namesmalate dehydrogenase 1
HGNC (Hugo) MDH1
LocusID (NCBI) 4190
Atlas_Id 41327
Location 2p15  [Link to chromosome band 2p15]
Location_base_pair Starts at 63816285 and ends at 63834330 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KPNB1 (17q21.32) / MDH1 (2p15)MAGED2 (Xp11.21) / MDH1 (2p15)MDH1 (2p15) / COMMD1 (2p15)
MDH1 (2p15) / CTNNA1 (5q31.2)MDH1 (2p15) / LRTOMT (11q13.4)MDH1 (2p15) / MDH1 (2p15)
SMPD4 (2q21.1) / MDH1 (2p15)MDH1 2p15 / COMMD1 2p15

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
AliasesHEL-S-32; MDH-s; MDHA; MGC:1375; 
MOR2
GeneCards (Weizmann)MDH1
Ensembl hg19 (Hinxton)ENSG00000014641 [Gene_View]  chr2:63816285-63834330 [Contig_View]  MDH1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000014641 [Gene_View]  chr2:63816285-63834330 [Contig_View]  MDH1 [Vega]
ICGC DataPortalENSG00000014641
TCGA cBioPortalMDH1
AceView (NCBI)MDH1
Genatlas (Paris)MDH1
WikiGenes4190
SOURCE (Princeton)MDH1
Genetics Home Reference (NIH)MDH1
Genomic and cartography
GoldenPath hg19 (UCSC)MDH1  -     chr2:63816285-63834330 +  2p15   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MDH1  -     2p15   [Description]    (hg38-Dec_2013)
EnsemblMDH1 - 2p15 [CytoView hg19]  MDH1 - 2p15 [CytoView hg38]
Mapping of homologs : NCBIMDH1 [Mapview hg19]  MDH1 [Mapview hg38]
OMIM154200   
Gene and transcription
Genbank (Entrez)AK295931 AK300719 AK307273 AK312331 BC001484
RefSeq transcript (Entrez)NM_001199111 NM_001199112 NM_001316374 NM_005917
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)MDH1
Cluster EST : UnigeneHs.526521 [ NCBI ]
CGAP (NCI)Hs.526521
Alternative Splicing GalleryENSG00000014641
Gene ExpressionMDH1 [ NCBI-GEO ]   MDH1 [ EBI - ARRAY_EXPRESS ]   MDH1 [ SEEK ]   MDH1 [ MEM ]
Gene Expression Viewer (FireBrowse)MDH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4190
GTEX Portal (Tissue expression)MDH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP40925   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP40925  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP40925
Splice isoforms : SwissVarP40925
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 ]   
PhosPhoSitePlusP40925
Domaine pattern : Prosite (Expaxy)MDH (PS00068)   
Domains : Interpro (EBI)L-lactate/malate_DH    Lactate/malate_DH_C    Lactate/malate_DH_N    Lactate_DH/Glyco_Ohase_4_C    Malate_DH_AS    Malate_DH_NAD-dep_euk    Malate_DH_type2    NAD(P)-bd_dom   
Domain families : Pfam (Sanger)Ldh_1_C (PF02866)    Ldh_1_N (PF00056)   
Domain families : Pfam (NCBI)pfam02866    pfam00056   
Conserved Domain (NCBI)MDH1
DMDM Disease mutations4190
Blocks (Seattle)MDH1
SuperfamilyP40925
Human Protein AtlasENSG00000014641
Peptide AtlasP40925
HPRD01100
IPIIPI00916111   IPI00952583   IPI00915869   IPI00916253   IPI00917560   IPI00916551   IPI00916676   IPI00916861   
Protein Interaction databases
DIP (DOE-UCLA)P40925
IntAct (EBI)P40925
FunCoupENSG00000014641
BioGRIDMDH1
STRING (EMBL)MDH1
ZODIACMDH1
Ontologies - Pathways
QuickGOP40925
Ontology : AmiGOpositive regulation of defense response to virus by host  malic enzyme activity  protein binding  extracellular space  cytoplasm  mitochondrion  centrosome  cytosol  gluconeogenesis  tricarboxylic acid cycle  oxaloacetate metabolic process  malate metabolic process  NADH metabolic process  L-malate dehydrogenase activity  myelin sheath  diiodophenylpyruvate reductase activity  NAD binding  extracellular exosome  mitophagy in response to mitochondrial depolarization  xenophagy  
Ontology : EGO-EBIpositive regulation of defense response to virus by host  malic enzyme activity  protein binding  extracellular space  cytoplasm  mitochondrion  centrosome  cytosol  gluconeogenesis  tricarboxylic acid cycle  oxaloacetate metabolic process  malate metabolic process  NADH metabolic process  L-malate dehydrogenase activity  myelin sheath  diiodophenylpyruvate reductase activity  NAD binding  extracellular exosome  mitophagy in response to mitochondrial depolarization  xenophagy  
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   
NDEx NetworkMDH1
Atlas of Cancer Signalling NetworkMDH1
Wikipedia pathwaysMDH1
Orthology - Evolution
OrthoDB4190
GeneTree (enSembl)ENSG00000014641
Phylogenetic Trees/Animal Genes : TreeFamMDH1
HOVERGENP40925
HOGENOMP40925
Homologs : HomoloGeneMDH1
Homology/Alignments : Family Browser (UCSC)MDH1
Gene fusions - Rearrangements
Fusion: TCGAMDH1 2p15 COMMD1 2p15 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMDH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MDH1
dbVarMDH1
ClinVarMDH1
1000_GenomesMDH1 
Exome Variant ServerMDH1
ExAC (Exome Aggregation Consortium)MDH1 (select the gene name)
Genetic variants : HAPMAP4190
Genomic Variants (DGV)MDH1 [DGVbeta]
DECIPHER (Syndromes)2:63816285-63834330  ENSG00000014641
CONAN: Copy Number AnalysisMDH1 
Mutations
ICGC Data PortalMDH1 
TCGA Data PortalMDH1 
Broad Tumor PortalMDH1
OASIS PortalMDH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMDH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMDH1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MDH1
DgiDB (Drug Gene Interaction Database)MDH1
DoCM (Curated mutations)MDH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MDH1 (select a term)
intoGenMDH1
Cancer3DMDH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM154200   
Orphanet
MedgenMDH1
Genetic Testing Registry MDH1
NextProtP40925 [Medical]
TSGene4190
GENETestsMDH1
Huge Navigator MDH1 [HugePedia]
snp3D : Map Gene to Disease4190
BioCentury BCIQMDH1
ClinGenMDH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4190
Chemical/Pharm GKB GenePA30714
Clinical trialMDH1
Miscellaneous
canSAR (ICR)MDH1 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMDH1
EVEXMDH1
GoPubMedMDH1
iHOPMDH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:43:11 CET 2016

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