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Aliases for LDHA Gene

Aliases for LDHA Gene

  • Lactate Dehydrogenase A 2 3 5
  • Cell Proliferation-Inducing Gene 19 Protein 3 4
  • Renal Carcinoma Antigen NY-REN-59 3 4
  • LDH Muscle Subunit 3 4
  • EC 1.1.1.27 4 61
  • LDH-A 3 4
  • LDH-M 3 4
  • Epididymis Secretory Sperm Binding Protein Li 133P 3
  • L-Lactate Dehydrogenase A Chain 3
  • Proliferation-Inducing Gene 19 3
  • Lactate Dehydrogenase M 3
  • HEL-S-133P 3
  • EC 1.1.1 61
  • GSD11 3
  • PIG19 3
  • LDHM 3

External Ids for LDHA Gene

Previous GeneCards Identifiers for LDHA Gene

  • GC11P019537
  • GC11P019358
  • GC11P018455
  • GC11P018380
  • GC11P018372
  • GC11P018101

Summaries for LDHA Gene

Entrez Gene Summary for LDHA Gene

  • 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]

GeneCards Summary for LDHA Gene

LDHA (Lactate Dehydrogenase A) is a Protein Coding gene. Diseases associated with LDHA include Fanconi-Bickel Syndrome and Myoglobinuria. Among its related pathways are Development Ligand-independent activation of ESR1 and ESR2 and Metabolism. GO annotations related to this gene include oxidoreductase activity and L-lactate dehydrogenase activity. An important paralog of this gene is LDHB.

Tocris Summary for LDHA Gene

  • Lactate Dehydrogenase A (LDHA; LDH5), EC 1.1.1.27, is one of five isoforms of the lactate dehydrogenase family. It catalyzes the conversion of pyruvate to lactate under anaerobic conditions and is key in the altered glycolytic metabolism that is a feature of cancer cells.

Gene Wiki entry for LDHA Gene

No data available for UniProtKB/Swiss-Prot , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LDHA Gene

Genomics for LDHA Gene

Regulatory Elements for LDHA Gene

Enhancers for LDHA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F018328 1 Ensembl ENCODE 17.7 -64.4 -64362 2.7 HDAC1 PKNOX1 TBL1XR1 NFRKB GATA2 FOS ETV6 CREM SMARCA5 JUNB GTF2H1 LDHA LDHC HPS5 LOC105376577
GH11F018331 0.5 Ensembl ENCODE 15.8 -61.5 -61516 1.7 RELA GTF2H1 LDHA SPTY2D1 HPS5 LOC105376577
GH11F018371 0.2 ENCODE 13 -22.5 -22452 1.8 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 SP3 SP5 GTF2H1 HPS5 LDHA LDHC GC11P018373 LOC105376577
GH11F018346 1.1 Ensembl ENCODE 11.7 -46.7 -46686 2.1 JUND FOS GTF2H1 HPS5 LDHA LDHC SPTY2D1 LOC105376577
GH11F018423 0.3 FANTOM5 11.4 +28.7 28726 0.2 LDHA GTF2H1 HPS5 SAA4 YWHABP2 SAAL1 LDHC ENSG00000256734
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around LDHA on UCSC Golden Path with GeneCards custom track

Promoters for LDHA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000559419 1112 2601 PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for LDHA Gene

Chromosome:
11
Start:
18,394,388 bp from pter
End:
18,408,425 bp from pter
Size:
14,038 bases
Orientation:
Plus strand

Genomic View for LDHA Gene

Genes around LDHA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LDHA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LDHA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LDHA Gene

Proteins for LDHA Gene

  • Protein details for LDHA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00338-LDHA_HUMAN
    Recommended name:
    L-lactate dehydrogenase A chain
    Protein Accession:
    P00338
    Secondary Accessions:
    • B4DKQ2
    • B7Z5E3
    • D3DQY3
    • F8W819
    • Q53G53
    • Q6IBM7
    • Q6ZNV1
    • Q9UDE8
    • Q9UDE9

    Protein attributes for LDHA Gene

    Size:
    332 amino acids
    Molecular mass:
    36689 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for LDHA Gene

    Alternative splice isoforms for LDHA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LDHA Gene

Selected DME Specific Peptides for LDHA Gene

P00338:
  • NPVDILT
  • IKLKGYT
  • KSADTLW
  • PNVVKYSP
  • GEHGDSSV
  • DELALVDV
  • DLQHGSLFL
  • VVESAYE
  • MDLQHGS
  • WAIGLSV
  • TAGARQQEGE
  • ARFRYLM
  • NVAGVSLK
  • TYVAWKISGFPK
  • TLWGIQK
  • NLRRVHP
  • LVIITAGARQ
  • LDSARFR
  • GWVLGEHGD
  • ANSKLVI
  • PKNRVIG
  • VKYSPNC
  • QRNVNIFK
  • NLDSARFR
  • NKITVVGVG
  • ACAISIL
  • WKEVHKQVV
  • IGSGCNLD
  • KIVSGKDY
  • EDKLKGE
  • VFLSVPC
  • GFPKNRV

Post-translational modifications for LDHA Gene

  • ISGylated.
  • Ubiquitination at Lys 5, Lys 14, Lys 59, Lys 76, Lys 118, Lys 126, Lys 132, Lys 278, Lys 318, Lys 328, and Lys 27
  • Modification sites at PhosphoSitePlus

Domains & Families for LDHA Gene

Graphical View of Domain Structure for InterPro Entry

P00338

UniProtKB/Swiss-Prot:

LDHA_HUMAN :
  • Belongs to the LDH/MDH superfamily. LDH family.
Family:
  • Belongs to the LDH/MDH superfamily. LDH family.
genes like me logo Genes that share domains with LDHA: view

No data available for Gene Families for LDHA Gene

Function for LDHA Gene

Molecular function for LDHA Gene

GENATLAS Biochemistry:
lactate dehydrogenase A,glycolysis,energy pathway,putative up-regulated c-Myc target gene,
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-lactate + NAD(+) = pyruvate + NADH.

Enzyme Numbers (IUBMB) for LDHA Gene

Gene Ontology (GO) - Molecular Function for LDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004457 lactate dehydrogenase activity IEA --
GO:0004459 L-lactate dehydrogenase activity NAS 1953713
GO:0005515 protein binding IPI 23523103
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with LDHA: view
genes like me logo Genes that share phenotypes with LDHA: view

Human Phenotype Ontology for LDHA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LDHA Gene

MGI Knock Outs for LDHA:
  • Ldha tm1a(EUCOMM)Wtsi

Animal Model Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for LDHA Gene

Localization for LDHA Gene

Subcellular locations from UniProtKB/Swiss-Prot for LDHA Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LDHA Gene COMPARTMENTS Subcellular localization image for LDHA gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
mitochondrion 4
cytoskeleton 1
lysosome 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for LDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005913 cell-cell adherens junction IDA 25468996
GO:0016020 membrane IEA,IDA 19946888
genes like me logo Genes that share ontologies with LDHA: view

Pathways & Interactions for LDHA Gene

genes like me logo Genes that share pathways with LDHA: view

UniProtKB/Swiss-Prot P00338-LDHA_HUMAN

  • Pathway: Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1.

SIGNOR curated interactions for LDHA Gene

Is activated by:

Gene Ontology (GO) - Biological Process for LDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006089 lactate metabolic process IEA --
GO:0006090 pyruvate metabolic process TAS --
GO:0006096 glycolytic process NAS 1953713
genes like me logo Genes that share ontologies with LDHA: view

Drugs & Compounds for LDHA Gene

(19) Drugs for LDHA Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nicotinamide Approved Nutra Target 902,906
Stiripentol Approved Pharma An LDH inhibitor 8
Pyruvic acid Approved Nutra 0
Etheno-Nad Experimental Pharma Target 0
Oxamic Acid Experimental Pharma Target 0

(10) Additional Compounds for LDHA Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hydroxybutyric acid
  • (RS)-2-Hydroxybutyrate
  • (RS)-2-Hydroxybutyric acid
  • 2-Hydroxy-Butanoate
  • 2-Hydroxy-Butanoic acid
  • 2-Hydroxy-DL-Butyrate
600-15-7
3-Mercaptolactic acid
  • 3-Mercaptolactate
  • b-Mercaptolactate
  • b-Mercaptolactic acid
  • beta-Mercaptolactate
  • beta-Mercaptolactic acid
2614-83-7
3-Mercaptopyruvic acid
  • 3-Mercapto-pyruvate
  • 3-Mercapto-pyruvic acid
  • 3-Mercaptopyruvate
  • 3-Mercaptopyruvic acid
  • beta-3-Mercapto-2-oxo-propanoate
2464-23-5
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NHI 2
1269802-97-2

(3) Tocris Compounds for LDHA Gene

Compound Action Cas Number
Galloflavin Lactate dehydrogenase inhibitor; impairs aerobic glycolysis 1780260-20-9
GSK 2837808A Potent, selective LDHA inhibitor 1445879-21-9
NHI 2 LDHA inhibitor 1269802-97-2

(4) ApexBio Compounds for LDHA Gene

Compound Action Cas Number
Galloflavin
GSK 2837808A 1445879-21-9
Isosafrole A stiripentol analog, a potent LDH inhibitor. 120-58-1
Stiripentol An LDH inhibitor 49763-96-4
genes like me logo Genes that share compounds with LDHA: view

Transcripts for LDHA Gene

Unigene Clusters for LDHA Gene

Lactate dehydrogenase A:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LDHA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: - - - - - - - - - - - - -
SP6: - - -
SP7:

Relevant External Links for LDHA Gene

GeneLoc Exon Structure for
LDHA
ECgene alternative splicing isoforms for
LDHA

Expression for LDHA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LDHA Gene

Protein differential expression in normal tissues from HIPED for LDHA Gene

This gene is overexpressed in Tonsil (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LDHA Gene



Protein tissue co-expression partners for LDHA Gene

NURSA nuclear receptor signaling pathways regulating expression of LDHA Gene:

LDHA

SOURCE GeneReport for Unigene cluster for LDHA Gene:

Hs.2795
genes like me logo Genes that share expression patterns with LDHA: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LDHA Gene

Orthologs for LDHA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LDHA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LDHA 34 35
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 94 (a)
OneToMany
LDHA 34
  • 93.17 (n)
-- 35
  • 87 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
cow
(Bos Taurus)
Mammalia LDHA 34 35
  • 91.97 (n)
oppossum
(Monodelphis domestica)
Mammalia LDHA 35 35
  • 91 (a)
OneToMany
-- 35
  • 90 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ldha 34 16 35
  • 84.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LDHA 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves LDHA 34 35
  • 79.6 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 86 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ldha 34
  • 74.1 (n)
MGC76171 34
African clawed frog
(Xenopus laevis)
Amphibia ldha-prov 34
zebrafish
(Danio rerio)
Actinopterygii ldha 34 35
  • 69.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta ImpL3 36 34 35
  • 59.04 (n)
CG13334 36 35
  • 40 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004880 34
  • 58.94 (n)
worm
(Caenorhabditis elegans)
Secernentea ldh-1 36 34 35
  • 59.23 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G17260 34
  • 54.56 (n)
rice
(Oryza sativa)
Liliopsida Os02g0105400 34
  • 52.44 (n)
corn
(Zea mays)
Liliopsida Zm.10337 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11301 35
  • 56 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3533 34
Species where no ortholog for LDHA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LDHA Gene

ENSEMBL:
Gene Tree for LDHA (if available)
TreeFam:
Gene Tree for LDHA (if available)

Paralogs for LDHA Gene

Variants for LDHA Gene

Sequence variations from dbSNP and Humsavar for LDHA Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121912479 Uncertain significance 18,407,267(+) AAAAG(G/T)AGCTG nc-transcript-variant, reference, missense, utr-variant-3-prime, stop-gained
rs10554414 -- 18,400,373(+) AAATA(-/TGTT)TGTTA intron-variant
rs10562494 -- 18,405,840(+) GAAAT(-/AAAC)TATTT intron-variant
rs10684351 -- 18,404,817(+) AAAAA(-/AAAAAAAAAAAA)GAATC intron-variant
rs10766475 -- 18,406,445(+) ATGTG(C/T)GGGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LDHA Gene

Variant ID Type Subtype PubMed ID
esv2744169 CNV deletion 23290073
nsv1070941 CNV deletion 25765185
nsv1127164 CNV deletion 24896259
nsv39368 CNV deletion 16902084
nsv509392 CNV insertion 20534489
nsv510999 OTHER complex 20534489
nsv553633 CNV gain 21841781
nsv982991 CNV duplication 23825009

Variation tolerance for LDHA Gene

Residual Variation Intolerance Score: 55.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LDHA Gene

Human Gene Mutation Database (HGMD)
LDHA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LDHA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LDHA Gene

Disorders for LDHA Gene

MalaCards: The human disease database

(13) MalaCards diseases for LDHA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
fanconi-bickel syndrome
  • glycogen storage disease xi
myoglobinuria
malignant germ cell tumor
  • germ cell cancer
subendocardial myocardial infarction
leiomyomatosis and renal cell cancer
  • hereditary leiomyomatosis and renal cell cancer
- elite association - COSMIC cancer census association via MalaCards
Search LDHA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LDHA_HUMAN
  • Glycogen storage disease 11 (GSD11) [MIM:612933]: A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue. {ECO:0000269 PubMed:2334430}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for LDHA Gene

myoglobinuria,exertional and/or excessive fatigability

Relevant External Links for LDHA

Genetic Association Database (GAD)
LDHA
Human Genome Epidemiology (HuGE) Navigator
LDHA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LDHA
genes like me logo Genes that share disorders with LDHA: view

Publications for LDHA Gene

  1. Association of an exonic LDHA polymorphism with altered respiratory response in probands at high risk for panic disorder. (PMID: 12555229) Philibert R.A. … Coryell W.H. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2003) 3 22 46 64
  2. Molecular analysis of genetic mutation in electrophoretic variant of human lactate dehydrogenase-A(M) subunit. (PMID: 1445373) Sudo K. … Toriumi J. (Biochem. Int. 1992) 3 4 22 64
  3. Analysis of genetic mutations in human lactate dehydrogenase-A(M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining. (PMID: 1953713) Maekawa M. … Kanno T. (Biochem. Biophys. Res. Commun. 1991) 3 4 22 64
  4. Genotypic analysis of families with lactate dehydrogenase A (M) deficiency by selective DNA amplification. (PMID: 1959923) Maekawa M. … Kanno T. (Hum. Genet. 1991) 3 4 22 64
  5. Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. (PMID: 2334430) Maekawa M. … Li S.S. (Biochem. Biophys. Res. Commun. 1990) 3 4 22 64

Products for LDHA Gene

Sources for LDHA Gene

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