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Aliases for LDHA Gene

Aliases for LDHA Gene

  • Lactate Dehydrogenase A 2 3
  • 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 64
  • GSD11 3 6
  • LDH-A 3 4
  • LDH-M 3 4
  • LDH1 3 6
  • 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 64
  • PIG19 3
  • LDHM 3

External Ids for LDHA Gene

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 glycogen storage disease due to lactate dehydrogenase m-subunit deficiency and fanconi-bickel syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include L-lactate dehydrogenase activity. An important paralog of this gene is LDHC.

Gene Wiki entry for LDHA Gene

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

Genomics for LDHA Gene

Genomic Location for LDHA Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LDHA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LDHA Gene

Regulatory Elements 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

Proteomics data for LDHA Gene at MOPED

Post-translational modifications for LDHA Gene

  • ISGylated.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys5, Lys14, Lys57, Lys59, Lys76, Lys81, Lys118, Lys126, Lys132, Lys155, Lys232, Lys243, Lys278, Lys318, Lys328, and Lys27

Domains for LDHA Gene

UniProtKB/Swiss-Prot:

LDHA_HUMAN
Family:
  • Belongs to the LDH/MDH superfamily. LDH family.:
    • P00338
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 --
GO:0004459 L-lactate dehydrogenase activity NAS 1953713
GO:0005515 protein binding IPI 23523103
GO:0016491 oxidoreductase activity --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor --
genes like me logo Genes that share ontologies with LDHA: view
genes like me logo Genes that share phenotypes with LDHA: view

No data available for Animal Models , Transcription Factor Targeting 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 4
mitochondrion 2
nucleus 2
peroxisome 2
cytoskeleton 1
extracellular 1
plasma membrane 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 --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with LDHA: view

Pathways 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

Gene Ontology (GO) - Biological Process for LDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process --
GO:0006090 pyruvate metabolic process TAS --
GO:0006096 glycolytic process NAS 1953713
GO:0021762 substantia nigra development IEP 22926577
GO:0031668 cellular response to extracellular stimulus IEA --
genes like me logo Genes that share ontologies with LDHA: view

Compounds for LDHA Gene

(2) HMDB Compounds for LDHA Gene

Compound Synonyms Cas Number PubMed IDs
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4

(5) Drugbank Compounds for LDHA Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Etheno-Nad
target
NADH
  • beta-DPNH
606-68-8 target
Nicotinamide
98-92-0 target
Nicotinamide-Adenine-Dinucleotide
53-84-9 target
Oxamic Acid
471-47-6 target

(13) Novoseek inferred chemical compound relationships for LDHA Gene

Compound -log(P) Hits PubMed IDs
lactate 81.3 88
pyruvate 70.2 15
glucose 42.9 23
glyceraldehyde 3-phosphate 41.5 4
vegf 31.4 9
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:

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 for LDHA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LDHA Gene

SOURCE GeneReport for Unigene cluster for LDHA Gene Hs.2795

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

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 36
  • 99.5 (n)
  • 99.7 (a)
LDHA 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LDHA 36
  • 91.97 (n)
  • 93.67 (a)
LDHA 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 87 (a)
OneToMany
-- 37
  • 87 (a)
OneToMany
-- 37
  • 94 (a)
OneToMany
LDHA 36
  • 93.17 (n)
  • 94.46 (a)
mouse
(Mus musculus)
Mammalia Ldha 36
  • 84.49 (n)
  • 90.86 (a)
Ldha 16
Ldha 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 90 (a)
OneToMany
-- 37
  • 88 (a)
OneToMany
-- 37
  • 79 (a)
OneToMany
-- 37
  • 72 (a)
OneToMany
-- 37
  • 77 (a)
OneToMany
-- 37
  • 82 (a)
OneToMany
LDHA 37
  • 91 (a)
OneToMany
LDHA 37
  • 91 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia LDHA 37
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves LDHA 36
  • 79.6 (n)
  • 85.15 (a)
LDHA 37
  • 85 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 86 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia ldha-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ldha 36
  • 74.1 (n)
  • 84.64 (a)
MGC76171 36
zebrafish
(Danio rerio)
Actinopterygii ldha 36
  • 69.78 (n)
  • 76.51 (a)
ldha 37
  • 76 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004880 36
  • 58.94 (n)
  • 60.24 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG13334 37
  • 37 (a)
ManyToMany
ImpL3 36
  • 59.04 (n)
  • 59.94 (a)
ImpL3 37
  • 61 (a)
ManyToMany
ImpL3 38
  • 59 (a)
CG13334 38
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea ldh-1 36
  • 59.23 (n)
  • 59.02 (a)
ldh-1 37
  • 58 (a)
OneToMany
ldh-1 38
  • 61 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G17260 36
  • 54.56 (n)
  • 54.34 (a)
corn
(Zea mays)
Liliopsida Zm.10337 36
rice
(Oryza sativa)
Liliopsida Os02g0105400 36
  • 52.44 (n)
  • 56.67 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3533 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11301 37
  • 56 (a)
OneToMany
Species with no ortholog for LDHA:
  • 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

Paralogs for LDHA Gene

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

Variants for LDHA Gene

Sequence variations from dbSNP and Humsavar for LDHA Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs4820 -- 18,402,940(+) TACCT(A/G/T)ATGGG reference, synonymous-codon, nc-transcript-variant
rs14789 -- 18,407,703(+) TTGTG(C/T)ATAAT utr-variant-3-prime, nc-transcript-variant
rs14790 -- 18,407,649(+) TTTTT(A/C)CCAGT utr-variant-3-prime, nc-transcript-variant
rs1830425 -- 18,397,885(+) AGAAA(C/T)GGATT intron-variant
rs1830426 -- 18,397,987(+) TAATA(C/T)ACCAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv509392 CNV Insertion 20534489
nsv510999 CNV Complex 20534489
esv2744169 CNV Deletion 23290073
nsv39368 CNV Loss 16902084

Relevant External Links for LDHA Gene

HapMap Linkage Disequilibrium report
LDHA
Human Gene Mutation Database (HGMD)
LDHA

Disorders for LDHA Gene

(1) OMIM Diseases for LDHA Gene (150000)

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.

(2) University of Copenhagen DISEASES for LDHA Gene

(5) Novoseek inferred disease relationships for LDHA Gene

Disease -log(P) Hits PubMed IDs
rhabdomyolysis 45.8 3
cancer 30.7 11
tumors 23.1 17
breast cancer 1.67 5
preeclampsia 0 2

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

Publications for LDHA Gene

  1. 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 23
  2. 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 23
  3. 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 23
  4. 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 23
  5. 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 23 49

Products for LDHA Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Adherens Junctions in human,mouse,rat
    • Adipogenesis in human,mouse,rat
    • Allergy & Asthma in human,mouse,rat
    • Alzheimers Disease in human,mouse,rat
    • Amino Acid Metabolism I in human,mouse,rat
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for LDHA
  • Block miRNA regulation of LDHA using miScript Target Protectors

Sources for LDHA Gene

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