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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MDH1 Gene

protein-coding   GIFtS: 68
GCID: GC02P063727

Malate Dehydrogenase 1, NAD (Soluble)

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Malate Dehydrogenase 1, NAD (Soluble)1 2     MGC:13752
Cytosolic Malate Dehydrogenase2 3     MOR22
Diiodophenylpyruvate Reductase2 3     Malate Dehydrogenase, Cytoplasmic2
MDHA2 3     Soluble Malate Dehydrogenase2
EC 1.1.1.373 8     EC 1.1.1.963
MDH-s2     

External Ids:    HGNC: 69701   Entrez Gene: 41902   Ensembl: ENSG000000146417   OMIM: 1542005   UniProtKB: P409253   

Export aliases for MDH1 gene to outside databases

Previous GC identifers: GC02P063944 GC02P063773 GC02P063790 GC02P063669 GC02P063557


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MDH1 Gene:
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)

GeneCards Summary for MDH1 Gene: 
MDH1 (malate dehydrogenase 1, NAD (soluble)) is a protein-coding gene. Diseases associated with MDH1 include tetanus neonatorum, and echinococcosis, and among its related super-pathways are Glycolysis and gluconeogenesis (short map) and Metabolic pathways. GO annotations related to this gene include L-malate dehydrogenase activity and nucleotide binding. An important paralog of this gene is MDH1B.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MDH1 gene promoter:
         CUTL1   HNF-3beta   SRY   POU2F1   FOXO4   POU2F1a   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMDH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MDH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MDH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13.3   Ensembl cytogenetic band:  2p15   HGNC cytogenetic band: 2p23

MDH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MDH1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P063727:  view genomic region     (about GC identifiers)

Start:
63,815,743 bp from pter      End:
63,834,331 bp from pter
Size:
18,589 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MDHC_HUMAN, P40925 (See protein sequence)
Recommended Name: Malate dehydrogenase, cytoplasmic  
Size: 334 amino acids; 36426 Da
Subunit: Homodimer
Subcellular location: Cytoplasm
Secondary accessions: B2R5V5 B4DUN2 B7Z3I7 F5H098 Q6I9V0
Alternative splicing: 3 isoforms:  P40925-1   P40925-2   P40925-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MDH1: NX_P40925

Explore proteomics data for MDH1 at MOPED 

Post-translational modifications:

  • UniProtKB: ISGylated
  • UniProtKB: Acetylation at Lys-118 dramatically enhances enzymatic activity and promotes adipogenic differentiation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P40925

  • 4/15 DME Specific Peptides for MDH1 (P40925) (see all 15)
     TGAAGQI  LDVAILV  FSREKMD  TVQQRGA 

    MDH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MDH1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001186040.1  NP_001186041.1  NP_005908.1  

    ENSEMBL proteins: 
     ENSP00000233114   ENSP00000386743   ENSP00000399004   ENSP00000386719   ENSP00000394504  
     ENSP00000409027   ENSP00000410073   ENSP00000400937   ENSP00000438144   ENSP00000377945  
     ENSP00000446395  
    Reactome Protein details: P40925
    Human Recombinant Protein Products for MDH1: 
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    Novus Biologicals MDH1 Proteins
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    Sino Biological Recombinant Protein for MDH1
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    ProSpec Recombinant Protein for MDH1
    Cloud-Clone Corp. Proteins for MDH1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS--

    MDH1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for MDH1 
    Cloud-Clone Corp. CLIAs for MDH1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR001236 Lactate/malate_DH_N
     IPR011274 Malate_DH_NAD-dep_euk
     IPR010945 Malate_DH_type2
     IPR022383 Lactate/malate_DH_C
     IPR015955 Lactate_DH/Glyco_Ohase_4_C

    Graphical View of Domain Structure for InterPro Entry P40925

    ProtoNet protein and cluster: P40925

    2 Blocks protein domains:
    IPB001557 L-lactate dehydrogenase
    IPB008267 Malate dehydrogenase


    UniProtKB/Swiss-Prot: MDHC_HUMAN, P40925
    Similarity: Belongs to the LDH/MDH superfamily. MDH type 2 family


    MDH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MDHC_HUMAN, P40925
    Catalytic activity: (S)-malate + NAD(+) = oxaloacetate + NADH
    Catalytic activity: 3-(3,5-diiodo-4-hydroxyphenyl)lactate + NAD(+) = 3-(3,5-diiodo-4-hydroxyphenyl)pyruvate + NADH

         Genatlas biochemistry entry for MDH1:
    malate dehydrogenase,NAD,soluble,same as KETAR (keto acid reductase,alpha-1)

         Enzyme Numbers (IUBMB): EC 1.1.1.371 2 EC 1.1.1.961

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004470malic enzyme activity TAS8786100
    GO:0016491oxidoreductase activity ----
    GO:0016615malate dehydrogenase activity ----
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
         
    MDH1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MDH1:
     Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Mdh1):
     homeostasis/metabolism  mortality/aging  no phenotypic analysis 

    MDH1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MDH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MDH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MDH1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MDH1 

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MDH1:
    hsa-miR-376a*
    SwitchGear 3'UTR luciferase reporter plasmidMDH1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MDH1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MDH1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis (short map)
    Glycolysis and gluconeogenesis (short map)0.60
    gluconeogenesis0.39
    Glycolysis and Gluconeogenesis0.60
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Glucose metabolism
    Glucose metabolism0.50
    Gluconeogenesis0.50
    4Citric acid cycle (TCA cycle)
    Citrate cycle (TCA cycle)0.58
    5MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MDH1
        Glycolysis and gluconeogenesis (short map)


    1 GeneGo (Thomson Reuters) Pathway for MDH1
        Glycolysis and gluconeogenesis (short map)

    3 BioSystems Pathways for MDH1
        SREBP signalling
    Glycolysis and Gluconeogenesis
    gluconeogenesis


    4        Reactome Pathways for MDH1
        Gluconeogenesis
    Metabolism of carbohydrates
    Metabolism
    Glucose metabolism


    5/6         Kegg Pathways  (Kegg details for MDH1) (see all 6):
        Citrate cycle (TCA cycle)
    Pyruvate metabolism
    Glyoxylate and dicarboxylate metabolism
    Metabolic pathways
    Carbon metabolism


    MDH1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MDH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/40 Interacting proteins for MDH1 (P409252, 3 ENSP000002331144) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MPP3Q133682, 3MINT-64784 I2D: score=5 
    HSP90AB1P082382, 3MINT-72652 I2D: score=3 
    RABGGTBP536113, ENSP000003174734I2D: score=5 STRING: ENSP00000317473
    GOT1P171743, ENSP000003595394I2D: score=1 STRING: ENSP00000359539
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--
    GO:0006099tricarboxylic acid cycle IEA--
    GO:0006107oxaloacetate metabolic process IEA--

    MDH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MDH1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MDH1 (MDHC)

    5 HMDB Compounds for MDH1    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Malic acid(-)-(S)-Malate (see all 27)97-67-6--
    Malic acid2-Hydroxybutanedioic acid (see all 24)6915-15-7--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Oxalacetic acid2-Ketosuccinate (see all 20)328-42-7--

    3 DrugBank Compounds for MDH1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--10592235
    NADHbeta-DPNH (see all 18)606-68-8target--16983536
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--10592235

    8 Novoseek inferred chemical compound relationships for MDH1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    malate 89.9 45 16028114 (3), 8724970 (2), 9358050 (2), 11225055 (2) (see all 30)
    tartronate 86.3 1 11415458 (1)
    oxaloacetate 73.4 1 11415458 (1)
    nadh 53 5 10190973 (2), 15565635 (2), 19457063 (1)
    lactate 44.8 7 19772885 (1), 9553689 (1), 10190973 (1), 11415458 (1) (see all 5)
    nadph 12.9 2 10190973 (2)
    glucose 10.3 4 19229245 (3)
    glutamate 6.21 3 16298240 (1), 12210547 (1)

    Search CenterWatch for drugs/clinical trials and news about MDH1 / MDHC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MDH1 gene (3 alternative transcripts): 
    NM_001199111.1  NM_001199112.1  NM_005917.3  

    Unigene Cluster for MDH1:

    Malate dehydrogenase 1, NAD (soluble)
    Hs.526521  [show with all ESTs]
    Unigene Representative Sequence: AL832067
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485781 ENST00000233114(uc002scj.2) ENST00000409908 ENST00000442225
    ENST00000409476 ENST00000485155 ENST00000436321 ENST00000462944 ENST00000454035
    ENST00000472098 ENST00000432309 ENST00000421012 ENST00000484538 ENST00000495083
    ENST00000539945(uc010ypv.2 uc010ypw.2) ENST00000394423 ENST00000544381


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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MDH1:
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    Additional mRNA sequence: 

    AK295931.1 AK300719.1 AK307273.1 AK312331.1 AL832067.1 BC001484.2 CR457405.1 D55654.1 
    U20352.1 

    24/31 DOTS entries (see all 31):

    DT.95248434  DT.87017834  DT.100882386  DT.100882385  DT.100882375  DT.100045500  DT.100882384  DT.92465848 
    DT.100882373  DT.100045497  DT.92465853  DT.308953  DT.92465864  DT.97861078  DT.99985898  DT.100045501 
    DT.110791  DT.40270538  DT.99977970  DT.101987397  DT.110792  DT.121010517  DT.92465836  DT.92465865 

    24/1127 AceView cDNA sequences (see all 1127):

    CR594032 AA844008 CA748529 BU624283 CD245931 AA687648 BQ001237 T33829 
    AI494285 AA227039 BQ775845 BI254744 AI633675 AA856563 BM789271 CN482278 
    CB054653 BE222575 BX332566 AA854154 BU729936 AI191435 CB160999 AI133079 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for MDH1 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c
    SP1:                    -     -     -           -                             -                       -                                                   
    SP2:                    -     -     -           -                             -                                                                           
    SP3:                    -           -           -                             -                                                                           
    SP4:                    -     -     -           -                 -     -     -                       -                                                   
    SP5:                    -     -     -     -     -     -     -     -     -     -                       -                                                   


    ECgene alternative splicing isoforms for MDH1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MDH1 expression in normal human tissues (normalized intensities)      MDH1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTTAGTGT
    MDH1 Expression
    About this image


    MDH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/26 selected tissues (see all 26) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             heart muscle ; myocytes   
             heart/atrium   
     
     Thyroid (Endocrine System)    fully expand to see all 3 entries
             thyroid gland ; glandular cells   
             parathyroid gland   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             sensory organ/eye/cornea   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Granulocytes Peripheral Blood
             mouse/organ system/cardiovascular system   

    See MDH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MDH1

    SOURCE GeneReport for Unigene cluster: Hs.526521
        SABiosciences Expression via Pathway-Focused PCR Arrays including MDH1: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MDH1 gene from 9/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mdh11 , 5 malate dehydrogenase 1, NAD (soluble)1, 5 90.29(n)1
    96.4(a)1
      11 (13.89 cM)5
    174491  NM_008618.31  NP_032644.31 
     215567875 
    chicken
    (Gallus gallus)
    Aves MDH11 malate dehydrogenase 1, NAD (soluble) 81.83(n)
    90.66(a)
      421281  NM_001006395.1  NP_001006395.1 
    lizard
    (Anolis carolinensis)
    Reptilia MDH16
    malate dehydrogenase 1, NAD (soluble)
    88(a)
    1 ↔ 1
    1(120622583-120638822)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686592 hypothetical protein MGC68659 79.45(n)    BC060386.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk59d032 wufk59d03 79.08(n)   335715  BC050508.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG53623
    Mdh11
    L-malate dehydrogenase3
    Malate dehydrogenase 11
    64(a)3
    62.44(n)1
    66.47(a)1
      31E13
    344141  NM_135550.11  NP_609394.11 
    worm
    (Caenorhabditis elegans)
    Secernentea mdh-11 Protein MDH-1 59.04(n)
    60.24(a)
      179041  NM_072255.2  NP_504656.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G044101 malate dehydrogenase 60.69(n)
    62.01(a)
      839527  NM_100321.2  NP_171936.1 
    rice
    (Oryza sativa)
    Liliopsida AK059248.12   -- 71.48(n)    AK059248.1 


    ENSEMBL Gene Tree for MDH1 (if available)
    TreeFam Gene Tree for MDH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MDH1 gene
    MDH1B2  
    1 SIMAP similar gene for MDH1 using alignment to 8 protein entries:     MDHC_HUMAN (see all proteins):
    MDH1B

    MDH1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for MDH1
    PGOHUM00000243492 PGOHUM00000241801


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/267 SNPs in MDH1 are shown (see all 267)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs359887941,2
    C--63696097(+) TTTTT-/T/TTTTTTTTTTTTT
    TTTTTTTTTTTTTTTTTT
    GAGAC
    3 -- int11NA 2
    rs1861903081,2
    --63817895(+) AGACAG/TAACAT 3 -- int10--------
    rs1382227131,2
    --63817941(+) CAGCAA/GACTCA 3 -- int10--------
    rs1894663731,2
    --63817944(+) CAAACA/TCACAC 3 -- int10--------
    rs749457951,2
    C,F--63818035(+) AAAGCG/AGAGGA 3 -- int11Minor allele frequency- A:0.02EA 120
    rs799177171,2
    F--63818265(+) AAAGTC/TATTGG 3 -- int11Minor allele frequency- T:0.02EA 120
    rs14465691,2
    C,F,O,A,H--63818314(+) TGGCAG/CACTGC 3 -- int126Minor allele frequency- C:0.13EA NA NS WA CSA 1305
    rs1807362201,2
    --63818690(+) TTATGA/GGAAGT 3 -- int10--------
    rs101736041,2
    C,H--63818872(+) GCTTCA/TTGGCC 3 -- int14Minor allele frequency- T:0.00NS EA 420
    rs1863227691,2
    --63818911(+) AAAACA/CACAGG 3 -- int10--------

    HapMap Linkage Disequilibrium report for MDH1 (63815743 - 63834331 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MDH1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv7313OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): MDH1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 154200    OMIM disorders: --

    13 diseases for MDH1:    About MalaCards
    tetanus neonatorum    echinococcosis    spinal muscular atrophy    muscular atrophy
    tetanus    retinitis pigmentosa    schizophrenia    dilated cardiomyopathy
    retinitis    lateral sclerosis    tuberculosis    alzheimer's disease
    neuronitis


    MDH1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for MDH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dilated cardiomyopathy 24.9 1 15565635 (1)
    schizophrenia 0 5 15176481 (4)

    Genetic Association Database (GAD): MDH1
    Human Genome Epidemiology (HuGE) Navigator: MDH1 (3 documents)

    Export disorders for MDH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MDH1 gene, integrated from 9 sources (see all 80):
    (articles sorted by number of sources associating them with MDH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and mapping of a human cDNA for cytosolic malate dehydrogenase (MDH1). (PubMed id 8786100)1, 2, 9 Tanaka T.... Nakamura Y. (1996)
    2. Acetylation of malate dehydrogenase 1 promotes adipogenic differentiation via activating its enzymatic activity. (PubMed id 22693256)1, 2 Kim E.Y.... Bae K.H. (2012)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Physiogenomic analysis of statin-treated patients: do main-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (2010)
    5. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. (2009)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. The human myocardial two-dimensional gel protein database: update 1994. (PubMed id 7895732)1, 2 Corbett J.M.... Dunn M.J. (1994)
    9. Biochemical and genetic identity of alpha-keto acid reductase and cytoplasmic malate dehydrogenase from human erythrocytes. (PubMed id 3052244)1, 2 Friedrich C.A....Kitto G.B. (1988)
    10. Developmental regulation and cellular distribution of human cytosolic malate dehydrogenase (MDH1). (PubMed id 15565635)1, 9 Lo A.S....Waye M.M. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4190 HGNC: 6970 AceView: MDH1 Ensembl:ENSG00000014641 euGenes: HUgn4190
    ECgene: MDH1 Kegg: 4190 H-InvDB: MDH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MDH1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MDH1 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Malate_dehydrogenase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MDH1 gene:
    Search GeneIP for patents involving MDH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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