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    LDHA lactate dehydrogenase A [ Homo sapiens (human) ]

    Gene ID: 3939, updated on 19-Jul-2016
    Official Symbol
    LDHAprovided by HGNC
    Official Full Name
    lactate dehydrogenase Aprovided by HGNC
    Primary source
    HGNC:HGNC:6535
    See related
    Ensembl:ENSG00000134333 HPRD:01025; MIM:150000; Vega:OTTHUMG00000167721
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LDHM; GSD11; PIG19; HEL-S-133P
    Summary
    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]
    Orthologs
    Location:
    11p15.4
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (18394389..18408218)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (18415936..18429765)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene general transcription factor IIH subunit 1 Neighboring gene uncharacterized LOC105376577 Neighboring gene microRNA 3159 Neighboring gene lactate dehydrogenase C Neighboring gene lactate dehydrogenase A like 6A

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Glycogen storage disease XI
    MedGen: C2752022 OMIM: 612933 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify lactate dehydrogenase A (LDHA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    env HIV-1 gp120/41 (SFVenvBX08)-expressing microglia exhibit a 170% increase in lactate dehydrogenase (LDH) release PubMed
    Envelope transmembrane glycoprotein gp41 env A lentivirus lytic peptide 1 (LLP-1) corresponding to the carboxyl terminus of HIV-1 gp41 induces a significant lactate dehydrogenase (LDH, a marker of cell death) release from human neuronal and glial cell lines PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify lactate dehydrogenase A (LDHA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify lactate dehydrogenase A (LDHA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify lactate dehydrogenase A (LDHA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Tat tat HIV-1 Tat upregulates lactate dehydrogenase A (LDHA) expression in Jurkat T-cells PubMed
    tat Upregulation of actin, heat shock protein 90 and mitochondrial single-stranded DNA binding protein, and downregulation of lactate dehydrogenase are identified in human astrocytes expressing Tat PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-lactate dehydrogenase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    L-lactate dehydrogenase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    NAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    cadherin binding involved in cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    NAD metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    glycolytic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    lactate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic organ development IEA
    Inferred from Electronic Annotation
    more info
     
    pyruvate metabolic process TAS
    Traceable Author Statement
    more info
     
    response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucose IEA
    Inferred from Electronic Annotation
    more info
     
    response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell-cell adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    L-lactate dehydrogenase A chain
    Names
    LDH muscle subunit
    LDH-A
    LDH-M
    cell proliferation-inducing gene 19 protein
    epididymis secretory sperm binding protein Li 133P
    lactate dehydrogenase M
    proliferation-inducing gene 19
    renal carcinoma antigen NY-REN-59
    NP_001128711.1
    NP_001158886.1
    NP_001158887.1
    NP_001158888.1
    NP_005557.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008185.1 RefSeqGene

      Range
      4955..18784
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135239.1NP_001128711.1  L-lactate dehydrogenase A chain isoform 2

      See identical proteins and their annotated locations for NP_001128711.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks a segment of the LDH domain but has the same N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AC084117, AK296667, BM995301, DB502157
      Consensus CDS
      CCDS44549.1
      UniProtKB/Swiss-Prot
      P00338
      Related
      ENSP00000406172, OTTHUMP00000236636, ENST00000430553, OTTHUMT00000395878
      Conserved Domains (2) summary
      cd05293
      Location:19271
      LDH_1; A subgroup of L-lactate dehydrogenases
      TIGR01771
      Location:25266
      L-LDH-NAD; L-lactate dehydrogenase
    2. NM_001165414.1NP_001158886.1  L-lactate dehydrogenase A chain isoform 3

      See identical proteins and their annotated locations for NP_001158886.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' exon that results in a distinct 5' UTR and causes translation initiation at an alternate start codon, compared to variant 1. The resulting isoform (3) has a longer N-terminus, compared to isoform 1.
      Source sequence(s)
      AC084117, AK298834, AK307477, BM995301, DC392310, DC396757
      Consensus CDS
      CCDS53609.1
      UniProtKB/Swiss-Prot
      P00338
      Related
      ENSP00000445175, ENST00000540430
      Conserved Domains (2) summary
      cd05293
      Location:48358
      LDH_1; A subgroup of L-lactate dehydrogenases
      TIGR01771
      Location:54353
      L-LDH-NAD; L-lactate dehydrogenase
    3. NM_001165415.1NP_001158887.1  L-lactate dehydrogenase A chain isoform 4

      See identical proteins and their annotated locations for NP_001158887.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and has multiple differences in the 3' coding region, compared to variant 1, one of which results in a frameshift. The resulting isoform (4) lacks a segment of the LDH domain and has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC084117, AK130587, AK307477, BM995301, DB502157
      Consensus CDS
      CCDS53610.1
      UniProtKB/Swiss-Prot
      P00338
      Related
      ENSP00000379524, OTTHUMP00000165206, ENST00000396222, OTTHUMT00000258173
      Conserved Domains (1) summary
      cd05293
      Location:19229
      LDH_1; A subgroup of L-lactate dehydrogenases
    4. NM_001165416.1NP_001158888.1  L-lactate dehydrogenase A chain isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon in the 3' coding region, compared to variant 1, which results in a frameshift. The resulting isoform (5) lacks a segment of the LDH domain and has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC084117, BG760757, BM995301, DB502157
      Consensus CDS
      CCDS53611.1
      UniProtKB/Swiss-Prot
      P00338
      Related
      ENSP00000227157, OTTHUMP00000165207, ENST00000227157, OTTHUMT00000258174
      Conserved Domains (1) summary
      cd05293
      Location:19240
      LDH_1; A subgroup of L-lactate dehydrogenases
    5. NM_005566.3NP_005557.1  L-lactate dehydrogenase A chain isoform 1

      See identical proteins and their annotated locations for NP_005557.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the predominant isoform (1).
      Source sequence(s)
      AC084117, BC067223, BG424022, BM995301, DB502157
      Consensus CDS
      CCDS7839.1
      UniProtKB/Swiss-Prot
      P00338
      UniProtKB/TrEMBL
      V9HWB9
      Related
      ENSP00000395337, OTTHUMP00000165205, ENST00000422447, OTTHUMT00000258172
      Conserved Domains (2) summary
      cd05293
      Location:19329
      LDH_1; A subgroup of L-lactate dehydrogenases
      TIGR01771
      Location:25324
      L-LDH-NAD; L-lactate dehydrogenase

    RNA

    1. NR_028500.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC084117, AK307477, BM995301, DB502157

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      18394389..18408218
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      18415425..18429229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)