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    LDHA lactate dehydrogenase A [ Homo sapiens (human) ]

    Gene ID: 3939, updated on 5-May-2024

    Summary

    Official Symbol
    LDHAprovided by HGNC
    Official Full Name
    lactate dehydrogenase Aprovided by HGNC
    Primary source
    HGNC:HGNC:6535
    See related
    Ensembl:ENSG00000134333 MIM:150000; AllianceGenome:HGNC:6535
    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
    This gene encodes the A subunit of lactate dehydrogenase enzyme which catalyzes the reversible conversion of pyruvate to lactate with the concomitant oxidation of NADH to NAD in anaerobic glycolysis. The protein is found predominantly in skeletal muscle and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2023]
    Expression
    Ubiquitous expression in small intestine (RPKM 177.1), liver (RPKM 154.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    11p15.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (18394563..18408425)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (18492694..18506551)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (18416110..18429972)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene general transcription factor IIH subunit 1 Neighboring gene uncharacterized LOC105376577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:18415405-18416069 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:18416070-18416735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3191 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:18417470-18417971 Neighboring gene microRNA 3159 Neighboring gene lactate dehydrogenase C Neighboring gene lactate dehydrogenase A like 6A

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
    MedGen: C2931743 OMIM: 612933 GeneReviews: Not available
    Compare labs

    EBI 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.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-lactate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables L-lactate dehydrogenase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables L-lactate dehydrogenase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables cadherin binding HDA PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in glycolytic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in lactate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lactate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lactate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pyruvate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in pyruvate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pyruvate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus HDA PubMed 
    part_of oxidoreductase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of oxidoreductase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5129..18991
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135239.2NP_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
      Consensus CDS
      CCDS44549.1
      UniProtKB/TrEMBL
      B4DJI1
      Related
      ENSP00000406172.2, ENST00000430553.6
      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_001165414.2NP_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/TrEMBL
      B4DJI1
      Related
      ENSP00000368722.6, ENST00000379412.9
      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_001165415.2NP_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
      Consensus CDS
      CCDS53610.1
      UniProtKB/Swiss-Prot
      P00338
      Related
      ENSP00000379524.2, ENST00000396222.6
      Conserved Domains (1) summary
      cd05293
      Location:19229
      LDH_1; A subgroup of L-lactate dehydrogenases
    4. NM_001165416.2NP_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
      ENSP00000227157.4, ENST00000227157.8
      Conserved Domains (1) summary
      cd05293
      Location:19240
      LDH_1; A subgroup of L-lactate dehydrogenases
    5. NM_005566.4NP_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
      Consensus CDS
      CCDS7839.1
      UniProtKB/Swiss-Prot
      B4DKQ2, B7Z5E3, D3DQY3, F8W819, P00338, Q53G53, Q6IBM7, Q6ZNV1, Q9UDE8, Q9UDE9
      UniProtKB/TrEMBL
      B4DJI1, V9HWB9
      Related
      ENSP00000395337.3, ENST00000422447.8
      Conserved Domains (1) summary
      cd05293
      Location:19329
      LDH_1; A subgroup of L-lactate dehydrogenases

    RNA

    1. NR_028500.2 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      18394563..18408425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160006.1 Reference GRCh38.p14 PATCHES

      Range
      146015..159877
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      18492694..18506551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)