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MDH1 (malate dehydrogenase 1)

Identity

Alias (NCBI)DEE88
EIEE88
HEL-S-32
KAR
MDH-s
MDHA
MGC:1375
MOR2
HGNC (Hugo) MDH1
HGNC Previous namemalate dehydrogenase 1, NAD (soluble)
LocusID (NCBI) 4190
Atlas_Id 41327
Location 2p15  [Link to chromosome band 2p15]
Location_base_pair Starts at 63588963 and ends at 63607196 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    malate dehydrogenase 1
AliasesDEE88; EIEE88; HEL-S-32; KAR; 
MDH-s; MDHA; MGC:1375; MOR2
GeneCards (Weizmann)MDH1
Ensembl hg19 (Hinxton)ENSG00000014641 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000014641 [Gene_View]  ENSG00000014641 [Sequence]  chr2:63588963-63607196 [Contig_View]  MDH1 [Vega]
ICGC DataPortalENSG00000014641
TCGA cBioPortalMDH1
AceView (NCBI)MDH1
Genatlas (Paris)MDH1
SOURCE (Princeton)MDH1
Genetics Home Reference (NIH)MDH1
Genomic and cartography
GoldenPath hg38 (UCSC)MDH1  -     chr2:63588963-63607196 +  2p15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MDH1  -     2p15   [Description]    (hg19-Feb_2009)
GoldenPathMDH1 - 2p15 [CytoView hg19]  MDH1 - 2p15 [CytoView hg38]
ImmunoBaseENSG00000014641
Genome Data Viewer NCBIMDH1 [Mapview hg19]  
OMIM154200   618959   
Gene and transcription
Genbank (Entrez)AK295931 AK300719 AK307273 AK312331 BC001484
RefSeq transcript (Entrez)NM_001199111 NM_001199112 NM_001316374 NM_005917
Consensus coding sequences : CCDS (NCBI)MDH1
Gene ExpressionMDH1 [ NCBI-GEO ]   MDH1 [ EBI - ARRAY_EXPRESS ]   MDH1 [ SEEK ]   MDH1 [ MEM ]
Gene Expression Viewer (FireBrowse)MDH1 [ Firebrowse - Broad ]
GenevisibleExpression of MDH1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4190
GTEX Portal (Tissue expression)MDH1
Human Protein AtlasENSG00000014641-MDH1 [pathology]   [cell]   [tissue]
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
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_sf   
Domain families : Pfam (Sanger)Ldh_1_C (PF02866)    Ldh_1_N (PF00056)   
Domain families : Pfam (NCBI)pfam02866    pfam00056   
Conserved Domain (NCBI)MDH1
SuperfamilyP40925
AlphaFold pdb e-kbP40925   
Human Protein Atlas [tissue]ENSG00000014641-MDH1 [tissue]
HPRD01100
Protein Interaction databases
DIP (DOE-UCLA)P40925
IntAct (EBI)P40925
BioGRIDMDH1
STRING (EMBL)MDH1
ZODIACMDH1
Ontologies - Pathways
QuickGOP40925
Ontology : AmiGOmalic enzyme activity  protein binding  extracellular space  centrosome  cytosol  cytosol  cytosol  gluconeogenesis  tricarboxylic acid cycle  oxaloacetate metabolic process  malate metabolic process  NADH metabolic process  NAD metabolic process  L-malate dehydrogenase activity  diiodophenylpyruvate reductase activity  NAD binding  extracellular exosome  
Ontology : EGO-EBImalic enzyme activity  protein binding  extracellular space  centrosome  cytosol  cytosol  cytosol  gluconeogenesis  tricarboxylic acid cycle  oxaloacetate metabolic process  malate metabolic process  NADH metabolic process  NAD metabolic process  L-malate dehydrogenase activity  diiodophenylpyruvate reductase activity  NAD binding  extracellular 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   
NDEx NetworkMDH1
Atlas of Cancer Signalling NetworkMDH1
Wikipedia pathwaysMDH1
Orthology - Evolution
OrthoDB4190
GeneTree (enSembl)ENSG00000014641
Phylogenetic Trees/Animal Genes : TreeFamMDH1
Homologs : HomoloGeneMDH1
Homology/Alignments : Family Browser (UCSC)MDH1
Gene fusions - Rearrangements
Fusion : QuiverMDH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMDH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MDH1
dbVarMDH1
ClinVarMDH1
MonarchMDH1
1000_GenomesMDH1 
Exome Variant ServerMDH1
GNOMAD BrowserENSG00000014641
Varsome BrowserMDH1
ACMGMDH1 variants
VarityP40925
Genomic Variants (DGV)MDH1 [DGVbeta]
DECIPHERMDH1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DMDH1
Mutations and Diseases : HGMDMDH1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMDH1
DgiDB (Drug Gene Interaction Database)MDH1
DoCM (Curated mutations)MDH1
CIViC (Clinical Interpretations of Variants in Cancer)MDH1
Cancer3DMDH1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM154200    618959   
Orphanet
DisGeNETMDH1
MedgenMDH1
Genetic Testing Registry MDH1
NextProtP40925 [Medical]
GENETestsMDH1
Target ValidationMDH1
Huge Navigator MDH1 [HugePedia]
ClinGenMDH1
Clinical trials, drugs, therapy
MyCancerGenomeMDH1
Protein Interactions : CTDMDH1
Pharm GKB GenePA30714
PharosP40925
Clinical trialMDH1
Miscellaneous
canSAR (ICR)MDH1
HarmonizomeMDH1
DataMed IndexMDH1
Probes
Litterature
PubMed76 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMDH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:18:09 CEST 2021

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