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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Likely pathogenic; Pathogenic rs2494611829, rs201372985, rs779023149, rs1590216677, rs1440890027, rs777988373 RCV003058293
RCV003062348
RCV002626065
RCV000015667
RCV003630842
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
decreased blood alpha-hydroxyisovalerate levels association ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 16132575
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 29170050
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 30158244
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29756998, 30509961
★☆☆☆☆
Found in Text Mining only
Adult Hepatocellular Carcinoma Liver carcinoma BEFREE 26506419, 26956717, 28293396
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 29601482, 30862721
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 25880801
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28818664
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 36292720 Associate
★☆☆☆☆
Found in Text Mining only