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LDHA Gene

protein-coding   GIFtS: 74
GCID: GC11P018415

Lactate Dehydrogenase A

  See LDHA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Lactate Dehydrogenase A1 2     LDH12 5
Cell Proliferation-Inducing Gene 19 Protein2 3     HEL-S-133P2
Renal Carcinoma Antigen NY-REN-592 3     LDHM2
LDH-A2 3     Epididymis Secretory Sperm Binding Protein Li 133P2
LDH-M2 3     L-Lactate Dehydrogenase A Chain2
LDH Muscle Subunit2 3     Lactate Dehydrogenase M2
EC 1.1.1.273 8     Proliferation-Inducing Gene 192
GSD112 5     EC 1.1.18

External Ids:    HGNC: 65351   Entrez Gene: 39392   Ensembl: ENSG000001343337   OMIM: 1500005   UniProtKB: P003383   

Export aliases for LDHA gene to outside databases

Previous GC identifers: GC11P019537 GC11P019358 GC11P018455 GC11P018380 GC11P018372 GC11P018101


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 lactate dehydrogenase a deficiency, and fanconi bickel syndrome. GO annotations related to this gene include L-lactate dehydrogenase activity. An important paralog of this gene is LDHAL6B.

Gene Wiki entry for LDHA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the LDHA gene promoter:
         CREB   POU2F1   POU2F1a   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLDHA promoter sequence
   Search Chromatin IP Primers for LDHA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LDHA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.4   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p15.1

LDHA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LDHA gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P018415:  view genomic region     (about GC identifiers)

Start:
18,415,935 bp from pter      End:
18,429,972 bp from pter
Size:
14,038 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LDHA_HUMAN, P00338 (See protein sequence)
Recommended Name: L-lactate dehydrogenase A chain  
Size: 332 amino acids; 36689 Da
Subunit: Homotetramer
4 PDB 3D structures from and Proteopedia for LDHA:
1I10 (3D)        4AJP (3D)        4JNK (3D)        4M49 (3D)    
Secondary accessions: B4DKQ2 B7Z5E3 D3DQY3 F8W819 Q53G53 Q6IBM7 Q6ZNV1 Q9UDE8 Q9UDE9
Alternative splicing: 5 isoforms:  P00338-1   P00338-2   P00338-3   P00338-4   P00338-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LDHA: NX_P00338

Explore proteomics data for LDHA at MOPED

Post-translational modifications: 

  • ISGylated1
  • Ubiquitination2 at Lys5, Lys14, Lys57, Lys59, Lys76, Lys81, Lys118, Lys126, Lys132, Lys155,
                                 Lys232, Lys243, Lys278, Lys318, Lys328
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for LDHA (P00338) (see all 32)
     NPVDILT  KSADTLW  IKLKGYT  VVESAYE 


    See LDHA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001128711.1  NP_001158886.1  NP_001158887.1  NP_001158888.1  NP_005557.1  

    ENSEMBL proteins: 
     ENSP00000395337   ENSP00000440161   ENSP00000443545   ENSP00000406172   ENSP00000379524  
     ENSP00000444292   ENSP00000442979   ENSP00000440368   ENSP00000441058   ENSP00000443362  
     ENSP00000442637   ENSP00000227157   ENSP00000441241   ENSP00000446415   ENSP00000368722  
     ENSP00000445331   ENSP00000441699   ENSP00000445175  
    Reactome Protein details: P00338

    LDHA Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for LDHA
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    Novus Biologicals LDHA Proteins
    Novus Biologicals LDHA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for LDHA
    Cloud-Clone Corp. Proteins for LDHA

     
    Search eBioscience for Proteins for LDHA 

    LDHA Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of LDHA
    R&D Systems Antibodies for LDHA (Lactate Dehydrogenase A/LDHA)
    Cell Signaling Technology (CST) Antibodies for LDHA  (LDH-A)
    OriGene Antibodies for LDHA
    OriGene Custom Antibody Services for LDHA
    Novus Biologicals LDHA Antibodies
    Abcam antibodies for LDHA (P00338, P07195)
    Cloud-Clone Corp. Antibodies for LDHA
    ThermoFisher Antibody for LDHA
    LSBio Antibodies in human, mouse, rat for LDHA

    LDHA Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for LDHA
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for LDHA
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LDHA
    Cloud-Clone Corp. CLIAs for LDHA
    Search eBioscience for ELISAs for LDHA 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR011304 L-lactate_DH
     IPR001236 Lactate/malate_DH_N
     IPR018177 L-lactate_DH_AS
     IPR022383 Lactate/malate_DH_C
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P00338

    ProtoNet protein and cluster: P00338

    2 Blocks protein domains:
    IPB001557 L-lactate dehydrogenase
    IPB011304 L-lactate dehydrogenase


    UniProtKB/Swiss-Prot: LDHA_HUMAN, P00338
    Similarity: Belongs to the LDH/MDH superfamily. LDH family


    Find genes that share domains with LDHA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LDHA_HUMAN, P00338
    Catalytic activity: (S)-lactate + NAD(+) = pyruvate + NADH

         Genatlas biochemistry entry for LDHA:
    lactate dehydrogenase A,glycolysis,energy pathway,putative up-regulated c-Myc target gene,

         Enzyme Numbers (IUBMB): EC 1.1.1.271 2 EC 1.1.12

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004459L-lactate dehydrogenase activity NAS1953713
    GO:0005515protein binding IPI--
    GO:0016491oxidoreductase activity ----
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
         
    Find genes that share ontologies with LDHA           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 13 alleles(MGI details for Ldha):
     cardiovascular system  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  normal  respiratory system  tumorigenesis 

    Find genes that share phenotypes with LDHA           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LDHA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LDHA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LDHA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LDHA

    miRNA
    Products:
        
    miRTarBase miRNAs that target LDHA:
    hsa-let-7c-5p (MIRT051827), hsa-mir-378a-3p (MIRT043959), hsa-mir-935 (MIRT036678), hsa-mir-33a-5p (MIRT028212), hsa-mir-331-3p (MIRT043554), hsa-mir-324-5p (MIRT043068), hsa-mir-34a-5p (MIRT025431), hsa-mir-320c (MIRT036157), hsa-mir-23a-3p (MIRT050430)

    Block miRNA regulation of human, mouse, rat LDHA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LDHA (see all 11):
    hsa-miR-34c-5p hsa-miR-449b hsa-miR-491-3p hsa-miR-501-3p hsa-miR-449a hsa-miR-33a hsa-miR-502-3p hsa-miR-34a
    SwitchGear 3'UTR luciferase reporter plasmidLDHA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LDHA
    Predesigned siRNA for gene silencing in human, mouse, rat LDHA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for LDHA

    Clone
    Products:
         
    OriGene clones in human, mouse for LDHA (see all 31)
    OriGene ORF clones in mouse, rat for LDHA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): LDHA (NM_001135239)
    Sino Biological Human cDNA Clone for LDHA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LDHA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LDHA

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for LDHA
    Browse ESI BIO Cell Lines and PureStem Progenitors for LDHA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LDHA

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12395) for LDHA 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LDHA_HUMAN, P00338: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    nucleus2
    peroxisome2
    cytoskeleton1
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0005929cilium IEA--
    GO:0070062extracellular vesicular exosome IDA11487543

    Find genes that share ontologies with LDHA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LDHA About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis short map
    Glycolysis and Gluconeogenesis0.60
    Glycolysis / Gluconeogenesis0.46
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Valine, leucine and isoleucine degradation
    Propanoate metabolism0.31
    pyruvate fermentation to lactate0.00
    4Citric acid cycle (TCA cycle)
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Pyruvate metabolism0.00
    5Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71


    Find genes that share SuperPaths with LDHA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for LDHA
        HIF1Alpha Pathway
    Metabolic States and Circadian Oscillators

    1 Cell Signaling Technology (CST) Pathway for LDHA
        Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for LDHA
        Transcription CREB pathway

    4 BioSystems Pathways for LDHA
        Glycolysis and Gluconeogenesis
    HIF-1-alpha transcription factor network
    Validated targets of C-MYC transcriptional activation
    pyruvate fermentation to lactate


    1 Reactome Pathway for LDHA
        Pyruvate metabolism


    Selected Kegg Pathways  (Kegg details for LDHA) (see all 6):
        Glycolysis / Gluconeogenesis
    Cysteine and methionine metabolism
    Pyruvate metabolism
    Propanoate metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: LDHA_HUMAN, P00338
    Pathway: Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1

        Pathway & Disease-focused RT2 Profiler PCR Arrays including LDHA (see all 146): 

              Antiviral Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Prostate Cancer in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LDHA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LDHA (P003381, 2, 3 ENSP000003953374) via UniProtKB, MINT, STRING, and/or I2D (see all 148)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSP90AB1P082382, 3MINT-72650 I2D: score=3 
    YWHAZP631042, 3, ENSP000003095034MINT-3304540 I2D: score=1 STRING: ENSP00000309503
    H3F3AP842433, ENSP000003557784I2D: score=1 STRING: ENSP00000355778
    H3F3BP842433, ENSP000002548104I2D: score=1 STRING: ENSP00000254810
    KAT2AQ928303, ENSP000002259164I2D: score=3 STRING: ENSP00000225916
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    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006090pyruvate metabolic process TAS--
    GO:0006096glycolytic process NAS1953713
    GO:0021762substantia nigra development IEP--
    GO:0031668cellular response to extracellular stimulus IEA--

    Find genes that share ontologies with LDHA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LDHA

    2 HMDB Compounds for LDHA    About this table
    CompoundSynonyms CAS #PubMed Ids
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--

    5 DrugBank Compounds for LDHA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Etheno-Nad-- --target--17139284 17016423 10592235
    NADHbeta-DPNH (see all 18)606-68-8target--17006762 17308685 17555402
    Nicotinamide-- 98-92-0target--17139284 17016423 10592235
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423 10592235
    Oxamic Acid-- 471-47-6target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for LDHA gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lactate 81.3 141 11085930 (3), 19088479 (2), 10671207 (2), 19033423 (2) (see all 70)
    pyruvate 70.2 26 15231792 (2), 11085930 (2), 12923786 (1), 17521432 (1) (see all 13)
    glucose 42.9 47 11085930 (7), 19797055 (2), 8529674 (2), 16098620 (1) (see all 15)
    glyceraldehyde 3-phosphate 41.5 6 15752986 (1), 16714762 (1), 7524903 (1), 10897012 (1)
    vegf 31.4 11 20368990 (2), 16884534 (1), 18086000 (1), 9746763 (1) (see all 8)
    nadh 25.4 1 16198644 (1)
    atp 23.3 1 20133848 (1)
    oxygen 18.8 8 16098620 (3), 15231792 (1), 17512623 (1)
    nadph 16.1 1 16198644 (1)
    agarose 0 1 1959923 (1)



    Find genes that share compounds with LDHA           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LDHA gene (5 alternative transcripts): 
    NM_001135239.1  NM_001165414.1  NM_001165415.1  NM_001165416.1  NM_005566.3  

    Unigene Cluster for LDHA:

    Lactate dehydrogenase A
    Hs.2795  [show with all ESTs]
    Unigene Representative Sequence: NM_001165414
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000422447(uc001mok.3 uc009yho.2 uc001mol.3 uc010rdc.1 uc021qep.1)
    ENST00000543445 ENST00000469976 ENST00000545467 ENST00000430553 ENST00000396222
    ENST00000535451 ENST00000494573 ENST00000539814 ENST00000543695 ENST00000536528
    ENST00000541097 ENST00000545215 ENST00000227157 ENST00000478970 ENST00000495052
    ENST00000379412 ENST00000542179
    miRNA
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    Block miRNA regulation of human, mouse, rat LDHA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LDHA (see all 11):
    hsa-miR-34c-5p hsa-miR-449b hsa-miR-491-3p hsa-miR-501-3p hsa-miR-449a hsa-miR-33a hsa-miR-502-3p hsa-miR-34a
    SwitchGear 3'UTR luciferase reporter plasmidLDHA 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for LDHA
    Predesigned siRNA for gene silencing in human, mouse, rat LDHA
    Clone
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    OriGene clones in human, mouse for LDHA (see all 31)
    OriGene ORF clones in mouse, rat for LDHA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): LDHA (NM_001135239)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LDHA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LDHA
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for LDHA
    OriGene qSTAR qPCR primer pairs in human, mouse for LDHA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LDHA
      QuantiTect SYBR Green Assays in human, mouse, rat LDHA
      QuantiFast Probe-based Assays in human, mouse, rat LDHA
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12395) for LDHA 

    Additional mRNA sequence: 

    AK026515.1 AK130035.1 AK130105.1 AK130587.1 AK223078.1 AK296089.1 AK296667.1 AK298834.1 
    AK307477.1 AY423727.1 BC067223.1 CR456775.1 CR541714.1 NR_028500.1 X02152.1 

    Selected DOTS entries (see all 107):

    DT.95162838  DT.91790686  DT.95162817  DT.100738636  DT.100738608  DT.97811118  DT.120724436  DT.100738605 
    DT.100738612  DT.100738567  DT.100738607  DT.100738603  DT.92407662  DT.100738631  DT.100045658  DT.120724341 
    DT.100738569  DT.91882069  DT.120724437  DT.97833241  DT.97810430  DT.100688231  DT.100738592  DT.92330182 

    Selected AceView cDNA sequences (see all 3372):

    CB110993 CB142957 CR622058 AU103281 AL535297 AW473063 AU103310 CB136541 
    BM839259 BM835478 BG109714 BM828563 CB113129 BM836545 BM994549 BP870448 
    BQ636337 CA310023 AU103286 CR616140 BE439825 CB112665 AI037996 BM839676 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LDHA (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for LDHA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LDHA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTTGTGCAT
    LDHA Expression
    About this image


    LDHA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Thymus (Hematopoietic System)
             Thymus
     
     Eye (Sensory Organs)
             Lens
    LDHA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LDHA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.2795
        Pathway & Disease-focused RT2 Profiler PCR Arrays including LDHA (see all 146): 
              Antiviral Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Prostate Cancer in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for LDHA gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ldha1 , 5 lactate dehydrogenase A1, 5 84.49(n)1
    90.86(a)1
      7 (30.60 cM)5
    168281  NM_001136069.21  NP_001129541.21 
     468414755 
    chicken
    (Gallus gallus)
    Aves LDHA1 lactate dehydrogenase A 79.6(n)
    85.15(a)
      396221  NM_205284.1  NP_990615.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    L-lactate dehydrogenase
    86(a)
    1 → many
    1(67792747-67811950)
    African clawed frog
    (Xenopus laevis)
    Amphibia ldha-prov2 lactate dehydrogenase A 78.26(n)    BC045015.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570347782   -- 99.13(n)    57034778 
    fruit fly
    (Drosophila melanogaster)
    Insecta ImpL31 , 3 glycolysis L-lactate dehydrogenase3
    Ecdysone-inducible gene L31
    59(a)
    (best of 2)3
    59.04(n)1
    59.94(a)1
      65A113
    458801  NM_057233.51  NP_476581.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ldh-11 , 3 L-lactate dehydrogenase3
    ldh-11
    61(a)3
    59.23(n)1
    59.02(a)1
      II(11725228-11726333)3
    1747981  NM_064102.51  NP_496503.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G172601 AT4G17260 54.56(n)
    54.34(a)
      827440  NM_117832.3  NP_193459.1 
    rice
    (Oryza sativa)
    Liliopsida AK106504.12   -- 74.23(n)    AK106504.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LDHA gene
    LDHAL6B2  UEVLD2  LDHB2  LDHAL6A2  LDHC2  
    5 SIMAP similar genes for LDHA using alignment to 11 protein entries:     LDHA_HUMAN (see all proteins):
    LDHC    LDHB    LDHAL6B    LDHAL6A    UEVLD

    Find genes that share paralogs with LDHA           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for LDHA (see all 7)
    PGOHUM00000238635 PGOHUM00000245261 PGOHUM00000240118 PGOHUM00000259738 PGOHUM00000259778


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LDHA (see all 488)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1452347871,2
    C--18107217(+) CACAC-/ACACAC 6 -- int10--------
    rs616821001,2
    C--18108202(+) TTATT-/G/    
       GATTC
    ATTCA
    6 -- int11CSA 2
    rs1400277211,2
    C--18108202(+) TTATT-/GATTC 
            
    ATTTA
    6 -- int10--------
    rs802026581,2
    --18109218(+) AAAAGG/TTTTTT 6 -- int10--------
    rs105624941,2
    C,F--18112596(+) GAAATAAAC/-  
            
    TATTT
    6 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs1130019251,2
    C--18112599(+) ATAAAC/TTATTT 6 -- int10--------
    rs125780981,2
    H--18338208(+) ACCTAG/ATTTAT 5 -- us2k14Minor allele frequency- A:0.00NS EA 410
    rs1468481601,2
    --18338259(+) AGGTGA/GAAATT 5 -- us2k10--------
    rs1901322121,2
    --18338268(+) TTCTTC/TGTCTC 5 -- us2k10--------
    rs734346761,2
    C,F--18338269(+) TCTTCG/ATCTCC 5 -- us2k12Minor allele frequency- A:0.09WA 120

    HapMap Linkage Disequilibrium report for LDHA (18415935 - 18429972 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for LDHA:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744169CNV Deletion23290073
    nsv509392CNV Insertion20534489
    nsv39368CNV Loss16902084
    nsv510999CNV Complex20534489

    Human Gene Mutation Database (HGMD): LDHA
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LDHA
    DNA2.0 Custom Variant and Variant Library Synthesis for LDHA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 150000   
    OMIM disorders: 612933  
    UniProtKB/Swiss-Prot: LDHA_HUMAN, P00338
  • Glycogen storage disease 11 (GSD11) [MIM:612933]: A metabolic disorder that results in exertional
    myoglobinuria, pain, cramps and easy fatigue. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 5 diseases for LDHA:    
    About MalaCards
    lactate dehydrogenase a deficiency    fanconi bickel syndrome    hereditary leiomyomatosis and renal cell cancer    ovarian serous cystadenocarcinoma
    malignant germ cell tumor

    2 diseases from the University of Copenhagen DISEASES database for LDHA:
    Myocardial infarction     Cancer

    Find genes that share disorders with LDHA           About GenesLikeMe

    5 Novoseek inferred disease relationships for LDHA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rhabdomyolysis 45.8 5 7630349 (1), 7549132 (1), 8327147 (1)
    cancer 30.7 15 19088479 (1), 19689405 (1), 18811052 (1), 9465046 (1) (see all 11)
    tumors 23.1 27 20133848 (4), 10897012 (2), 16766262 (2), 8116930 (1) (see all 12)
    breast cancer 1.67 8 19668225 (2), 20144215 (2), 12160330 (1)
    preeclampsia 0 2 11286567 (2)

    Genatlas disease: LDHA
    myoglobinuria,exertional and/or excessive fatigability

    Genetic Association Database (GAD): LDHA
    Human Genome Epidemiology (HuGE) Navigator: LDHA (5 documents)

    Export disorders for LDHA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LDHA gene, integrated from 10 sources (see all 243):
    (articles sorted by number of sources associating them with LDHA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organization of human lactate dehydrogenase-A gene. (PubMed id 3000353)1, 2, 3 Chung F.Z.... Li S.S.-L. (Biochem. J. 1985)
    2. Association of an exonic LDHA polymorphism with altered respiratory response in probands at high risk for panic disorder. (PubMed id 12555229)1, 4, 9 Philibert R.A....Coryell W.H. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2003)
    3. Genotypic analysis of families with lactate dehydrogenase A (M) deficiency by selective DNA amplification. (PubMed id 1959923)1, 2, 9 Maekawa M.... Kanno T. (Hum. Genet. 1991)
    4. Molecular analysis of genetic mutation in electrophoretic variant of human lactate dehydrogenase-A(M) subunit. (PubMed id 1445373)1, 2, 9 Sudo K.... Toriumi J. (Biochem. Int. 1992)
    5. Analysis of genetic mutations in human lactate dehydrogenase-A(M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining. (PubMed id 1953713)1, 2, 9 Maekawa M.... Kanno T. (Biochem. Biophys. Res. Commun. 1991)
    6. Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. (PubMed id 2334430)1, 2, 9 Maekawa M.... Li S.S. (Biochem. Biophys. Res. Commun. 1990)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A. (PubMed id 21124955)1, 4 Marzi C....Gieger C. (PLoS Genet. 2010)
    9. Detecting rare variants for complex traits using family and unrelated data. (PubMed id 19847924)1, 4 Zhu X....Elston R.C. (Genet. Epidemiol. 2010)
    10. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3939 HGNC: 6535 AceView: LDHA Ensembl:ENSG00000134333 euGenes: HUgn3939
    ECgene: LDHA Kegg: 3939 H-InvDB: LDHA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for LDHA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LDHA Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LDHA[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Lactate_dehydrogenase
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/109

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LDHA gene:
    Search GeneIP for patents involving LDHA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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