LDHA
L-lactate dehydrogenase A chain
Also known as: LDHA_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P00338
- Gene
- LDHA
- Ensembl
- ENSG00000134333
- Chromosome
- 11
- Canonical length
- 332 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Cytosol
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
This gene encodes the A subunit of lactate dehydrogenase enzyme which catalyzes the reversible conversion of pyruvate to lactate with the concomitant oxidation of NADH to NAD in anaerobic glycolysis. The protein is found predominantly in skeletal muscle and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2023]
Canonical amino-acid sequenceUniProt
332 residues, UniProt reviewed canonical sequence.
>P00338|LDHA
1 MATLKDQLIY NLLKEEQTPQ NKITVVGVGA VGMACAISIL MKDLADELAL VDVIEDKLKG
61 EMMDLQHGSL FLRTPKIVSG KDYNVTANSK LVIITAGARQ QEGESRLNLV QRNVNIFKFI
121 IPNVVKYSPN CKLLIVSNPV DILTYVAWKI SGFPKNRVIG SGCNLDSARF RYLMGERLGV
181 HPLSCHGWVL GEHGDSSVPV WSGMNVAGVS LKTLHPDLGT DKDKEQWKEV HKQVVESAYE
241 VIKLKGYTSW AIGLSVADLA ESIMKNLRRV HPVSTMIKGL YGIKDDVFLS VPCILGQNGI
301 SDLVKVTLTS EEEARLKKSA DTLWGIQKEL QFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LDHA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 846 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 846 nTPM
- liver: 658 nTPM
- blood vessel: 510 nTPM
- tongue: 467 nTPM
- skin: 430 nTPM
- retina: 411 nTPM
Single-cell type
- ocular epithelial cells: 129 nCPM
- other brain neurons: 91 nCPM
- megakaryocytes: 68 nCPM
- basal keratinocytes: 65 nCPM
- renal collecting duct principal cells: 64 nCPM
- extravillous trophoblasts: 59 nCPM
Immune cell
- total PBMC: 236 nTPM
- myeloid DC: 201 nTPM
- non-classical monocyte: 168 nTPM
- intermediate monocyte: 163 nTPM
- classical monocyte: 146 nTPM
- T-reg: 139 nTPM
Brain region
- pons: 153 nTPM
- midbrain: 109 nTPM
- medulla oblongata: 108 nTPM
- hypothalamus: 107 nTPM
- cerebral cortex: 103 nTPM
- thalamus: 93 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LDHA.
Disease | AllUniProt
Conditions LDHA is implicated in, by any mechanism.
- Glycogen storage disease 11 (GSD11) MIM:612933
Disease | GeneticClinVar
13 pathogenic / likely-pathogenic of 259 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.63
- gnomAD pLI
- 0.07
- gnomAD missense Z
- 1.58
- DepMap mean gene effect
- -0.4
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- glucose catabolic process to lactate via pyruvate
- glycolytic process
- lactate metabolic process
- pyruvate catabolic process
- substantia nigra development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Lactate/malate dehydrogenase, N-terminal
- L-lactate/malate dehydrogenase
- L-lactate dehydrogenase
- Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal
- L-lactate dehydrogenase, active site
- Lactate/malate dehydrogenase, C-terminal
- NAD(P)-binding domain superfamily
- lactate/malate dehydrogenase, NAD binding domain
- lactate/malate dehydrogenase, alpha/beta C-terminal domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LDHA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LDHA as an antibody target. Whether an autoantibody or antibody against LDHA could matter depends on whether native LDHA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LDHA is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label LDHA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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