Gene Gene information from NCBI Gene database.
Entrez ID 3939
Gene name Lactate dehydrogenase A
Gene symbol LDHA
Synonyms (NCBI Gene)
GSD11HEL-S-133PLDHMPIG19
Chromosome 11
Chromosome location 11p15.1
Summary 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 i
miRNA miRNA information provided by mirtarbase database.
502
miRTarBase ID miRNA Experiments Reference
MIRT025431 hsa-miR-34a-5p Reporter assay;Proteomics 21566225
MIRT028212 hsa-miR-33a-5p Sequencing 20371350
MIRT051827 hsa-let-7c-5p CLASH 23622248
MIRT050430 hsa-miR-23a-3p CLASH 23622248
MIRT043959 hsa-miR-378a-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
ATF1 Unknown 9632793
HIF1A Activation 8955077
HSF1 Activation 19668225
JUN Activation 9723176
MYC Activation 9723176
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004457 Function Lactate dehydrogenase activity IEA
GO:0004459 Function L-lactate dehydrogenase (NAD+) activity IBA
GO:0004459 Function L-lactate dehydrogenase (NAD+) activity IEA
GO:0004459 Function L-lactate dehydrogenase (NAD+) activity IMP 34381247
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
150000 6535 ENSG00000134333
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P00338
Protein name L-lactate dehydrogenase A chain (LDH-A) (EC 1.1.1.27) (Cell proliferation-inducing gene 19 protein) (LDH muscle subunit) (LDH-M) (Renal carcinoma antigen NY-REN-59)
Protein function Interconverts simultaneously and stereospecifically pyruvate and lactate with concomitant interconversion of NADH and NAD(+).
PDB 1I10 , 4AJP , 4JNK , 4L4R , 4L4S , 4M49 , 4OJN , 4OKN , 4QO7 , 4QO8 , 4QSM , 4QT0 , 4R68 , 4R69 , 4RLS , 4ZVV , 5IXS , 5IXY , 5W8H , 5W8I , 5W8J , 5W8K , 5W8L , 5ZJD , 5ZJE , 5ZJF , 6BAD , 6BAG , 6BAX , 6BAZ , 6BB0 , 6BB1 , 6BB2 , 6BB3 , 6MV8 , 6MVA , 6Q0D , 6Q13 , 6SBU , 6SBV , 6ZZR , 7M2N , 8FW6 , 9BK2 , 9BK3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00056 Ldh_1_N 21 160 lactate/malate dehydrogenase, NAD binding domain Family
PF02866 Ldh_1_C 163 331 lactate/malate dehydrogenase, alpha/beta C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in anaerobic tissues such as skeletal muscle and liver. {ECO:0000305|PubMed:11276087}.
Sequence
Sequence length 332
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycolysis / Gluconeogenesis
Cysteine and methionine metabolism
Pyruvate metabolism
Propanoate metabolism
Metabolic pathways
HIF-1 signaling pathway
Glucagon signaling pathway
Central carbon metabolism in cancer
  Pyruvate metabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
180
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Likely pathogenic; Pathogenic rs2494611829, rs201372985, rs779023149, rs1590216677, rs1440890027, rs777988373 RCV003058293
RCV003062348
RCV002626065
RCV000015667
RCV003630842
RCV003629716
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
decreased blood alpha-hydroxyisovalerate levels association rs2403254 RCV000170568
Familial cancer of breast Uncertain significance; Likely benign; Benign rs776715682, rs35006409 RCV005869287
RCV005870764
RCV005870765
RCV005870771
RCV005870777
Gastric cancer Likely benign; Benign rs149686758, rs35006409 RCV005919278
RCV005870767
RCV005870773
LDHA-related disorder Likely benign; Benign; Conflicting classifications of pathogenicity rs377516196, rs200441639, rs34305721, rs141158742, rs200267888 RCV003909664
RCV003970145
RCV003922749
RCV003960358
RCV003918687
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 29170050
Adenocarcinoma of Lung Associate 25342384, 33287749, 34323652, 35325730, 35733175, 36564744, 37965333, 38594917
Altitude Sickness Associate 39173139
Arthritis Psoriatic Associate 36292720
Arthritis Rheumatoid Associate 34403518, 37973217
Astrocytoma Associate 14578171
Ataxia Telangiectasia Associate 34637921
Bone Resorption Associate 37973217
Brain Neoplasms Associate 32372141
Breast Neoplasms Associate 20144215, 25575825, 28314283, 28729678, 30618169, 30878502, 31903982, 33353120, 33626175, 34625424, 36418319, 36737428