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LDHA lactate dehydrogenase A [ Homo sapiens (human) ]

Gene ID: 3939, updated on 27-Nov-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
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Genomic context

See LDHA in Genome Data Viewer
Location:
11p15.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (18394563..18408425)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (18492694..18506551)
RS_2024_09 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
not available

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
 
involved_in substantia nigra development HEP PubMed 
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)

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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_2024_08

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)