LDHA lactate dehydrogenase A [Homo sapiens (human)] - Gene

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: mouse all
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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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HNRNPC Regulates GLUT1/LDHA Pathway by Stabilizing FOXM1 mRNA to Promote the Progression and Aerobic Glycolysis of Multiple Myeloma.
Title: HNRNPC Regulates GLUT1/LDHA Pathway by Stabilizing FOXM1 mRNA to Promote the Progression and Aerobic Glycolysis of Multiple Myeloma.
Single-cell sequencing of the retina shows that LDHA regulates pathogenesis of autoimmune uveitis.
Title: Single-cell sequencing of the retina shows that LDHA regulates pathogenesis of autoimmune uveitis.
Lactate dehydrogenase A regulates tumor-macrophage symbiosis to promote glioblastoma progression.
Title: Lactate dehydrogenase A regulates tumor-macrophage symbiosis to promote glioblastoma progression.
The opposite role of lactate dehydrogenase a (LDHA) in cervical cancer under energy stress conditions.
Title: The opposite role of lactate dehydrogenase a (LDHA) in cervical cancer under energy stress conditions.
Cytoplasmic localization of SETDB1-induced Warburg effect via c-MYC-LDHA axis enhances migration and invasion in breast carcinoma.
Title: Cytoplasmic localization of SETDB1‑induced Warburg effect via c‑MYC‑LDHA axis enhances migration and invasion in breast carcinoma.
Canonical Wnt signaling promotes HSC glycolysis and liver fibrosis through an LDH-A/HIF-1alpha transcriptional complex.
Title: Canonical Wnt signaling promotes HSC glycolysis and liver fibrosis through an LDH-A/HIF-1α transcriptional complex.
LRPPRC promotes glycolysis by stabilising LDHA mRNA and its knockdown plus glutamine inhibitor induces synthetic lethality via m[6] A modification in triple-negative breast cancer.
Title: LRPPRC promotes glycolysis by stabilising LDHA mRNA and its knockdown plus glutamine inhibitor induces synthetic lethality via m(6) A modification in triple-negative breast cancer.
Lactate dehydrogenase A promotes nasopharyngeal carcinoma progression through the TAK1/NF-kappaB Axis.
Title: Lactate dehydrogenase A promotes nasopharyngeal carcinoma progression through the TAK1/NF-κB Axis.
LncRNA DLEU2 contributes to Taxol resistance of gastric cancer cells through regulating the miR-30c-5p-LDHA axis.
Title: LncRNA DLEU2 contributes to Taxol resistance of gastric cancer cells through regulating the miR-30c-5p-LDHA axis.
Identifying the critical oncogenic mechanism of LDHA based on a prognostic model of T-cell synthetic drivers.
Title: Identifying the critical oncogenic mechanism of LDHA based on a prognostic model of T-cell synthetic drivers.

Submit: New GeneRIF Correction See all GeneRIFs (220)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:212868 (e-PCR)
- UniSTS:156176

D11S4625 (e-PCR)
- UniSTS:72497

GDB:197849 (e-PCR)
- UniSTS:155966

RH93049 (e-PCR)
- UniSTS:92619

LDHA (e-PCR)
- UniSTS:17396

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 more info	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 more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	HDA more info	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

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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

EC 1.1.1.27

NP_001158886.1

EC 1.1.1.27

NP_001158887.1

EC 1.1.1.27

NP_001158888.1

EC 1.1.1.27

NP_005557.1

EC 1.1.1.27

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

NG_008185.1 RefSeqGene

Range

5129..18991

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001135239.2 → NP_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:19 → 271

LDH_1; A subgroup of L-lactate dehydrogenases

TIGR01771
Location:25 → 266

L-LDH-NAD; L-lactate dehydrogenase
NM_001165414.2 → NP_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:48 → 358

LDH_1; A subgroup of L-lactate dehydrogenases

TIGR01771
Location:54 → 353

L-LDH-NAD; L-lactate dehydrogenase
NM_001165415.2 → NP_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:19 → 229

LDH_1; A subgroup of L-lactate dehydrogenases
NM_001165416.2 → NP_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:19 → 240

LDH_1; A subgroup of L-lactate dehydrogenases
NM_005566.4 → NP_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:19 → 329

LDH_1; A subgroup of L-lactate dehydrogenases

RNA

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