Human Gene MDH1 (ENST00000233114.13_4) from GENCODE V47lift37
  Description: malate dehydrogenase 1, transcript variant 1 (from RefSeq NM_005917.4)
Gencode Transcript: ENST00000233114.13_4
Gencode Gene: ENSG00000014641.21_15
Transcript (Including UTRs)
   Position: hg19 chr2:63,816,097-63,834,331 Size: 18,235 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr2:63,816,178-63,834,121 Size: 17,944 Coding Exon Count: 9 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:63,816,097-63,834,331)mRNA (may differ from genome)Protein (334 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MDH1
Diseases sorted by gene-association score: retinitis pigmentosa 28 (8), x-linked sideroblastic anemia with ataxia (6), 3-methylglutaconic aciduria, type iii (5), retinitis pigmentosa (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 329.63 RPKM in Heart - Left Ventricle
Total median expression: 3462.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.2081-0.237 Picture PostScript Text
3' UTR -29.80210-0.142 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Descriptions from all associated GenBank mRNAs
  KJ891597 - Synthetic construct Homo sapiens clone ccsbBroadEn_00991 MDH1 gene, encodes complete protein.
AK312331 - Homo sapiens cDNA, FLJ92645, Homo sapiens malate dehydrogenase 1, NAD (soluble) (MDH1), mRNA.
EU794635 - Homo sapiens epididymis secretory protein Li 32 (HEL-S-32) mRNA, complete cds.
BC001484 - Homo sapiens malate dehydrogenase 1, NAD (soluble), mRNA (cDNA clone MGC:1375 IMAGE:3505345), complete cds.
D55654 - Homo sapiens mRNA for cytosolic malate dehydrogenase, complete cds.
AK295931 - Homo sapiens cDNA FLJ50971 complete cds, highly similar to Malate dehydrogenase, cytoplasmic (EC 1.1.1.37).
AK300719 - Homo sapiens cDNA FLJ52206 complete cds, highly similar to Malate dehydrogenase, cytoplasmic (EC 1.1.1.37).
CR457405 - Homo sapiens full open reading frame cDNA clone RZPDo834A0714D for gene MDH1, malate dehydrogenase 1, NAD (soluble); complete cds, incl. stopcodon.
U20352 - Homo sapiens malate dehydrogenase (MDHA) mRNA, complete cds.
JD023557 - Sequence 4581 from Patent EP1572962.
AK307273 - Homo sapiens cDNA, FLJ97221.
JD030300 - Sequence 11324 from Patent EP1572962.
JD025747 - Sequence 6771 from Patent EP1572962.
JD028017 - Sequence 9041 from Patent EP1572962.
JD020422 - Sequence 1446 from Patent EP1572962.
JD022945 - Sequence 3969 from Patent EP1572962.
JD547796 - Sequence 528820 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
MALATE-ASPARTATE-SHUTTLE-PWY - malate-aspartate shuttle
PWY66-398 - TCA cycle
PWY66-399 - gluconeogenesis
PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle

BioCarta from NCI Cancer Genome Anatomy Project
h_malatexPathway - Shuttle for transfer of acetyl groups from mitochondria to the cytosol
h_malatePathway - Malate-aspartate shuttle

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000233114.1, ENST00000233114.10, ENST00000233114.11, ENST00000233114.12, ENST00000233114.2, ENST00000233114.3, ENST00000233114.4, ENST00000233114.5, ENST00000233114.6, ENST00000233114.7, ENST00000233114.8, ENST00000233114.9, HEL-S-32 , NM_005917, uc317dwm.1, uc317dwm.2, V9HWF2, V9HWF2_HUMAN
UCSC ID: ENST00000233114.13_4
RefSeq Accession: NM_001316374.2

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.