LDHD
Probable D-lactate dehydrogenase, mitochondrial
Also known as: LDHD_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q86WU2
- Gene
- LDHD
- Ensembl
- ENSG00000166816
- Chromosome
- 16
- Canonical length
- 507 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Cytosol
- Quaternary structure
- Homooligomer
OverviewNCBI Gene
The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
507 residues, UniProt reviewed canonical sequence.
>Q86WU2|LDHD
1 MARLLRSATW ELFPWRGYCS QKAKGELCRD FVEALKAVVG GSHVSTAAVV REQHGRDESV
61 HRCEPPDAVV WPQNVEQVSR LAALCYRQGV PIIPFGTGTG LEGGVCAVQG GVCVNLTHMD
121 RILELNQEDF SVVVEPGVTR KALNAHLRDS GLWFPVDPGA DASLCGMAAT GASGTNAVRY
181 GTMRDNVLNL EVVLPDGRLL HTAGRGRHFR FGFWPEIPHH TAWYSPCVSL GRRKSAAGYN
241 LTGLFVGSEG TLGLITATTL RLHPAPEATV AATCAFPSVQ AAVDSTVHIL QAAVPVARIE
301 FLDEVMMDAC NRYSKLNCLV APTLFLEFHG SQQALEEQLQ RTEEIVQQNG ASDFSWAKEA
361 EERSRLWTAR HNAWYAALAT RPGCKGYSTD VCVPISRLPE IVVQTKEDLN ASGLTGSIVG
421 HVGDGNFHCI LLVNPDDAEE LGRVKAFAEQ LGRRALALHG TCTGEHGIGM GKRQLLQEEV
481 GAVGVETMRQ LKAVLDPQGL MNPGKVLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LDHD 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
- 126 nTPM
Expression across tissuesHPA
Tissue
- liver: 126 nTPM
- heart muscle: 79 nTPM
- skeletal muscle: 64 nTPM
- choroid plexus: 58 nTPM
- tongue: 49 nTPM
- kidney: 35 nTPM
Single-cell type
- hepatocytes: 95 nCPM
- colonocytes: 73 nCPM
- parietal cells: 58 nCPM
- breast lactating cells: 51 nCPM
- esophageal apical cells: 41 nCPM
- foveolar cells: 24 nCPM
Immune cell
- basophil: 11 nTPM
- non-classical monocyte: 4.8 nTPM
- intermediate monocyte: 3.6 nTPM
- classical monocyte: 2.2 nTPM
- total PBMC: 0.8 nTPM
- eosinophil: 0.6 nTPM
Brain region
- choroid plexus: 60 nTPM
- pons: 34 nTPM
- medulla oblongata: 32 nTPM
- cerebellum: 31 nTPM
- midbrain: 31 nTPM
- basal ganglia: 29 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LDHD.
Disease | AllUniProt
Conditions LDHD is implicated in, by any mechanism.
- D-lactic aciduria with gout (DLACD) MIM:245450
Disease | GeneticClinVar
8 pathogenic / likely-pathogenic of 120 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Lactic aciduria due to D-lactic acid
- Abnormal circulating lactate dehydrogenase concentration
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)
- 1.22
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.43
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- lactate catabolic process
Molecular functions
- FAD binding
- flavin adenine dinucleotide binding
- (2R)-2-hydroxycarboxylate dehydrogenase activity
- D-lactate dehydrogenase (cytochrome) activity
- D-lactate dehydrogenase (FAD) activity
- D-lactate dehydrogenase (NAD+) activity
- lactate dehydrogenase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- FAD-binding oxidoreductase/transferase, type 4, C-terminal
- FAD linked oxidase, N-terminal
- FAD-linked oxidase-like, C-terminal
- FAD-binding domain, PCMH-type
- FAD-binding, type PCMH, subdomain 1
- FAD-binding, type PCMH, subdomain 2
- Vanillyl-alcohol oxidase, C-terminal subdomain 2
- FAD-binding, type PCMH-like superfamily
- FAD binding domain
- FAD linked oxidases, C-terminal domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LDHD 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 LDHD as an antibody target. Whether an autoantibody or antibody against LDHD could matter depends on whether native LDHD is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LDHD 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 LDHD as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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