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LDHA lactate dehydrogenase A [ Homo sapiens (human) ]

Gene ID: 3939, updated on 26-Aug-2014
Official Symbol
LDHAprovided by HGNC
Official Full Name
lactate dehydrogenase Aprovided by HGNC
Primary source
HGNC:6535
Locus tag
PIG19
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
LDH1; 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]
See LDHA in Epigenomics, MapViewer
Location:
11p15.4
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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, polypeptide 1, 62kDa 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 Protein 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 NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
cellular carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular metabolic process TAS
Traceable Author Statement
more info
 
cellular response to extracellular stimulus IEA
Inferred from Electronic Annotation
more info
 
glycolytic process NAS
Non-traceable Author Statement
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
pyruvate metabolic process TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
substantia nigra development IEP
Inferred from Expression Pattern
more info
 
Component Evidence Code Pubs
cilium IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
L-lactate dehydrogenase A chain
Names
L-lactate dehydrogenase A chain
LDH-A
LDH-M
LDH muscle subunit
lactate dehydrogenase M
proliferation-inducing gene 19
renal carcinoma antigen NY-REN-59
cell proliferation-inducing gene 19 protein
epididymis secretory sperm binding protein Li 133P
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 

    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 proteins identical to 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
    Conserved Domains (2) summary
    cd05293
    Location:19271
    Blast Score: 1181
    LDH_1; A subgroup of L-lactate dehydrogenases
    TIGR01771
    Location:25266
    Blast Score: 869
    L-LDH-NAD; L-lactate dehydrogenase
  2. NM_001165414.1NP_001158886.1  L-lactate dehydrogenase A chain isoform 3

    See proteins identical to 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
    Blast Score: 1565
    LDH_1; A subgroup of L-lactate dehydrogenases
    TIGR01771
    Location:54353
    Blast Score: 1188
    L-LDH-NAD; L-lactate dehydrogenase
  3. NM_001165415.1NP_001158887.1  L-lactate dehydrogenase A chain isoform 4

    See proteins identical to 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
    Blast Score: 1095
    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
    Blast Score: 1122
    LDH_1; A subgroup of L-lactate dehydrogenases
  5. NM_005566.3NP_005557.1  L-lactate dehydrogenase A chain isoform 1

    See proteins identical to 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
    Blast Score: 1553
    LDH_1; A subgroup of L-lactate dehydrogenases
    TIGR01771
    Location:25324
    Blast Score: 1183
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

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

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    18101143..18114981
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

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