Human Gene LDHA (uc010rdd.2)
  Description: Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 3, mRNA.
RefSeq Summary (NM_001165414): The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008].
Transcript (Including UTRs)
   Position: hg19 chr11:18,417,813-18,429,765 Size: 11,953 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr11:18,418,095-18,428,828 Size: 10,734 Coding Exon Count: 8 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:18,417,813-18,429,765)mRNA (may differ from genome)Protein (361 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedReactomeUniProtKBWikipediaBioGrid 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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): LDHA
CDC HuGE Published Literature: LDHA
Positive Disease Associations: panic disorder , Serum Amyloid A Protein
Related Studies:
  1. panic disorder
    Philibert, R. A. et al. 2003, Association of an exonic LDHA polymorphism with altered respiratory response in probands at high risk for panic disorder., American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Feb;117(1):7-Nov. [PubMed 12555229]
    Given the pivotal role of LDH in the metabolism of lactate, a known inducer of panic attacks, and the dependence of LDH activity on cell pH, we suggest that LDHA polymorphisms may contribute to the variability to CO(2) respiratory challenge.
  2. Serum Amyloid A Protein
    Carola Marzi et al. PLoS genetics 2010, Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A., PLoS genetics. [PubMed 21124955]

-  MalaCards Disease Associations
  MalaCards Gene Search: LDHA
Diseases sorted by gene-association score: glycogen storage disease xi* (1350), lactate dehydrogenase a deficiency* (418), fanconi-bickel syndrome* (283), myoglobinuria (30), malignant germ cell tumor (18), subendocardial myocardial infarction (15), cataract 6, multiple types (11), leiomyomatosis and renal cell cancer (10), phototoxic dermatitis (7), non-gestational choriocarcinoma (7), korean hemorrhagic fever (7), leiomyomatosis (7), breast abscess (6), chronic maxillary sinusitis (6), hermansky-pudlak syndrome 5 (6), coenurosis (6), dressler's syndrome (6)
* = Manually curated disease association

-  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: 602.65 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 5524.03 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 -113.10282-0.401 Picture PostScript Text
3' UTR -220.72937-0.236 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.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00056 - lactate/malate dehydrogenase, NAD binding domain
PF02866 - lactate/malate dehydrogenase, alpha/beta C-terminal domain

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
56327 - LDH C-terminal domain-like

ModBase Predicted Comparative 3D Structure on P00338-3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Descriptions from all associated GenBank mRNAs
  AK130035 - Homo sapiens cDNA FLJ26525 fis, clone KDN08365, highly similar to L-lactate dehydrogenase M chain (EC 1.1.1.27).
AK296667 - Homo sapiens cDNA FLJ54086 complete cds, moderately similar to L-lactate dehydrogenase A chain (EC 1.1.1.27).
AK130587 - Homo sapiens cDNA FLJ27077 fis, clone SPL02415, highly similar to L-lactate dehydrogenase M chain (EC 1.1.1.27).
AK296089 - Homo sapiens cDNA FLJ52549 complete cds, highly similar to L-lactate dehydrogenase A chain (EC 1.1.1.27).
AK307477 - Homo sapiens cDNA, FLJ97425.
AK026515 - Homo sapiens cDNA: FLJ22862 fis, clone KAT01966, highly similar to HSLDHAR Human mRNA for lactate dehydrogenase-A.
AK223078 - Homo sapiens mRNA for lactate dehydrogenase A variant, clone: KAT03231.
BC067223 - Homo sapiens lactate dehydrogenase A, mRNA (cDNA clone MGC:72033 IMAGE:4096518), complete cds.
EU794632 - Homo sapiens epididymis secretory sperm binding protein Li 133P (HEL-S-133P) mRNA, complete cds.
X02152 - Human mRNA for lactate dehydrogenase-A (LDH-A, EC 1.1.1.27).
AK130105 - Homo sapiens cDNA FLJ26595 fis, clone LNF08485, highly similar to L-lactate dehydrogenase M chain (EC 1.1.1.27).
BC025288 - Homo sapiens cDNA clone IMAGE:3830552, **** WARNING: chimeric clone ****.
BC051361 - Homo sapiens lactate dehydrogenase A, mRNA (cDNA clone IMAGE:4639743).
BC072009 - Homo sapiens lactate dehydrogenase A, mRNA (cDNA clone IMAGE:4551914), **** WARNING: chimeric clone ****.
BC000749 - Homo sapiens lactate dehydrogenase A, mRNA (cDNA clone IMAGE:2960999), **** WARNING: chimeric clone ****.
BC001829 - Homo sapiens lactate dehydrogenase A, mRNA (cDNA clone IMAGE:2960999), **** WARNING: chimeric clone ****.
AK298834 - Homo sapiens cDNA FLJ55792 complete cds, highly similar to L-lactate dehydrogenase A chain (EC 1.1.1.27).
AY423727 - Homo sapiens proliferation-inducing gene 19 protein mRNA, complete cds.
CU688258 - Synthetic construct Homo sapiens gateway clone IMAGE:100022406 5' read LDHA mRNA.
AB463093 - Synthetic construct DNA, clone: pF1KB5221, Homo sapiens LDHA gene for lactate dehydrogenase A, without stop codon, in Flexi system.
CR541714 - Homo sapiens full open reading frame cDNA clone RZPDo834A0429D for gene LDHA, lactate dehydrogenase A; complete cds, without stopcodon.
KJ897124 - Synthetic construct Homo sapiens clone ccsbBroadEn_06518 LDHA gene, encodes complete protein.
KR711300 - Synthetic construct Homo sapiens clone CCSBHm_00022416 LDHA (LDHA) mRNA, encodes complete protein.
CR456775 - Homo sapiens full open reading frame cDNA clone RZPDo834E124D for gene LDHA, lactate dehydrogenase A; complete cds, incl. stopcodon.
JD295040 - Sequence 276064 from Patent EP1572962.
JD026234 - Sequence 7258 from Patent EP1572962.
JD019394 - Sequence 418 from Patent EP1572962.
LF366485 - JP 2014500723-A/173988: Polycomb-Associated Non-Coding RNAs.
JD036067 - Sequence 17091 from Patent EP1572962.
JD025628 - Sequence 6652 from Patent EP1572962.
JD035578 - Sequence 16602 from Patent EP1572962.
JD547843 - Sequence 528867 from Patent EP1572962.
JD373584 - Sequence 354608 from Patent EP1572962.
JD302790 - Sequence 283814 from Patent EP1572962.
JD509845 - Sequence 490869 from Patent EP1572962.
JD260204 - Sequence 241228 from Patent EP1572962.
JD085670 - Sequence 66694 from Patent EP1572962.
JD503056 - Sequence 484080 from Patent EP1572962.
JD509249 - Sequence 490273 from Patent EP1572962.
JD239117 - Sequence 220141 from Patent EP1572962.
MA602062 - JP 2018138019-A/173988: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00010 - Glycolysis / Gluconeogenesis
hsa00270 - Cysteine and methionine metabolism
hsa00620 - Pyruvate metabolism
hsa00640 - Propanoate metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-5481 - pyruvate fermentation to lactate

BioCarta from NCI Cancer Genome Anatomy Project
h_hifPathway - Hypoxia-Inducible Factor in the Cardiovascular System

Reactome (by CSHL, EBI, and GO)

Protein P00338 (Reactome details) participates in the following event(s):

R-HSA-70510 LDH tetramer oxidises LACT to PYR
R-HSA-71849 LDH tetramer reduces PYR to LACT
R-HSA-70268 Pyruvate metabolism
R-HSA-71406 Pyruvate metabolism and Citric Acid (TCA) cycle
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001165414, NP_005557, P00338-3, PIG19
UCSC ID: uc010rdd.2
RefSeq Accession: NM_001165414
Protein: P00338-3, splice isoform of P00338 CCDS: CCDS53609.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001165414.1
exon count: 8CDS single in 3' UTR: no RNA size: 2323
ORF size: 1086CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2308.00frame shift in genome: no % Coverage: 99.23
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.