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LDHB lactate dehydrogenase B [ Homo sapiens (human) ]

Gene ID: 3945, updated on 3-Nov-2024

Summary

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Official Symbol
LDHBprovided by HGNC
Official Full Name
lactate dehydrogenase Bprovided by HGNC
Primary source
HGNC:HGNC:6541
See related
Ensembl:ENSG00000111716 MIM:150100; AllianceGenome:HGNC:6541
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
LDH-B; LDH-H; LDHBD; TRG-5; HEL-S-281
Summary
This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13. [provided by RefSeq, Feb 2016]
Expression
Broad expression in kidney (RPKM 475.5), heart (RPKM 454.7) and 21 other tissues See more
Orthologs
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Genomic context

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See LDHB in Genome Data Viewer
Location:
12p12.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (21635342..21657842, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (21513920..21536444, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21788276..21810776, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902896 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:21710858-21712057 Neighboring gene spexin hormone Neighboring gene glycogen synthase 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:21748286-21748889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6094 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21810675-21811203 Neighboring gene uncharacterized LOC105369689 Neighboring gene uncharacterized LOC102724261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:21925998-21926996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:21926997-21927994 Neighboring gene potassium inwardly rectifying channel subfamily J member 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Lactate dehydrogenase B is associated with the response to neoadjuvant chemotherapy in oral squamous cell carcinoma. Sun W, et al. PLoS One, 2015. PMID 25973606, Free PMC Article
  2. A novel missense mutation in human lactate dehydrogenase B-subunit gene. Takatani T, et al. Mol Genet Metab, 2001 Aug. PMID 11509017
  3. Identification and activity of a series of azole-based compounds with lactate dehydrogenase-directed anti-malarial activity. Cameron A, et al. J Biol Chem, 2004 Jul 23. PMID 15117937
  4. Loss of lactate dehydrogenase B subunit expression is correlated with tumour progression and independently predicts inferior disease-specific survival in urinary bladder urothelial carcinoma. Liao AC, et al. Pathology, 2011 Dec. PMID 22027740
  5. The role of LDH serum levels in predicting global outcome in HCC patients undergoing TACE: implications for clinical management. Scartozzi M, et al. PLoS One, 2012. PMID 22461886, Free PMC Article

See all (282) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Epigenetic silencing of LDHB promotes hepatocellular carcinoma by remodeling the tumor microenvironment.
    Title: Epigenetic silencing of LDHB promotes hepatocellular carcinoma by remodeling the tumor microenvironment.
  2. Integrated analysis of single cell-RNA sequencing and Mendelian randomization identifies lactate dehydrogenase B as a target of melatonin in ischemic stroke.
    Title: Integrated analysis of single cell-RNA sequencing and Mendelian randomization identifies lactate dehydrogenase B as a target of melatonin in ischemic stroke.
  3. LDHB contributes to the regulation of lactate levels and basal insulin secretion in human pancreatic beta cells.
    Title: LDHB contributes to the regulation of lactate levels and basal insulin secretion in human pancreatic β cells.
  4. Role of monocarboxylate transporter I/lactate dehydrogenase B-mediated lactate recycling in tamoxifen-resistant breast cancer cells.
    Title: Role of monocarboxylate transporter I/lactate dehydrogenase B-mediated lactate recycling in tamoxifen-resistant breast cancer cells.
  5. The novel role of LDHA/LDHB in the prognostic value and tumor-immune infiltration in clear cell renal cell carcinoma.
    Title: The novel role of LDHA/LDHB in the prognostic value and tumor-immune infiltration in clear cell renal cell carcinoma.
  6. Lactate dehydrogenase as promising marker for prognosis of brain metastasis.
    Title: Lactate dehydrogenase as promising marker for prognosis of brain metastasis.
  7. Association between serum lactate dehydrogenase and 60-day mortality in Chinese Hakka patients with acute myeloid leukemia: A cohort study.
    Title: Association between serum lactate dehydrogenase and 60-day mortality in Chinese Hakka patients with acute myeloid leukemia: A cohort study.
  8. Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.
    Title: Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.
  9. Testicular germ cell tumors type 2 have high RNA expression of LDHB, the gene for lactate dehydrogenase subunit B.
    Title: Testicular germ cell tumors type 2 have high RNA expression of LDHB, the gene for lactate dehydrogenase subunit B.
  10. Association between serum lactate dehydrogenase and frailty among individuals with metabolic syndrome.
    Title: Association between serum lactate dehydrogenase and frailty among individuals with metabolic syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (55)

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 H-subunit deficiency
MedGen: C3279904 OMIM: 614128 GeneReviews: Not available
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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 B (LDHB), 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 B (LDHB), 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 B (LDHB), 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 B (LDHB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Tat tat Expression of HIV-1 Tat upregulates the abundance of lactate dehydrogenase B (LDHB) in the nucleoli of 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
capsid gag The interaction of HIV-1 CA with human cellular lactate dehydrogenase B protein (LDHB) is identified by yeast two-hybrid screen PubMed
gag HIV-1 CA is strongly associated with LDHB in HIV-1-infected lymphocytic cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Homology

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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables NAD binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables kinase binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in NAD metabolic process IEA
Inferred from Electronic Annotation
more info
  
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 cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 
located_in membrane raft IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
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 B chain
Names
LDH heart subunit
epididymis secretory protein Li 281
lactate dehydrogenase H chain
renal carcinoma antigen NY-REN-46
testicular secretory protein Li 25
NP_001167568.1
NP_001302466.1
NP_001401162.1
NP_001401163.1
NP_001401164.1
NP_002291.1
XP_006719137.1
XP_054228021.1

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_017038.2 RefSeqGene

    Range
    5000..27500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001174097.3 → NP_001167568.1  L-lactate dehydrogenase B chain isoform LDHB

    See identical proteins and their annotated locations for NP_001167568.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (LDHB).
    Source sequence(s)
    AC010197
    Consensus CDS
    CCDS8691.1
    UniProtKB/Swiss-Prot
    P07195
    UniProtKB/TrEMBL
    A0A3B3IS95, Q5U077
    Related
    ENSP00000379386.1, ENST00000396076.5
    Conserved Domains (1) summary
    cd05293
    Location:20 → 330
    LDH_1; A subgroup of L-lactate dehydrogenases

  2. NM_001315537.2 → NP_001302466.1  L-lactate dehydrogenase B chain isoform LDHBx

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (LDHB) results from translation termination at the upstream UGA stop codon, while the longer isoform (LDHBx) results from UGA stop codon readthrough to the downstream UAG termination codon. This RefSeq represents the longer, C-terminally extended isoform (LDHBx), which is localized in the peroxisomes. As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.
    Source sequence(s)
    AC010197
    Consensus CDS
    CCDS91663.1
    UniProtKB/TrEMBL
    A0A3B3IS95, A0A5F9ZHM4
    Related
    ENSP00000500484.2, ENST00000673047.2
    Conserved Domains (2) summary
    cd05293
    Location:20 → 330
    LDH_1; A subgroup of L-lactate dehydrogenases
    TIGR01771
    Location:26 → 326
    L-LDH-NAD; L-lactate dehydrogenase

  3. NM_001414233.1 → NP_001401162.1  L-lactate dehydrogenase B chain isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC010197

  4. NM_001414234.1 → NP_001401163.1  L-lactate dehydrogenase B chain isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC010197

  5. NM_001414235.1 → NP_001401164.1  L-lactate dehydrogenase B chain isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC010197
    Related
    ENSP00000379385.1, ENST00000396075.5

  6. NM_002300.8 → NP_002291.1  L-lactate dehydrogenase B chain isoform LDHB

    See identical proteins and their annotated locations for NP_002291.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (LDHB) results from translation termination at the upstream UGA stop codon, while the longer isoform (LDHBx) results from UGA stop codon readthrough to the downstream UAG termination codon. This RefSeq represents the shorter isoform (LDHB), which is localized in the cytosol. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC010197
    Consensus CDS
    CCDS8691.1
    UniProtKB/Swiss-Prot
    P07195
    UniProtKB/TrEMBL
    A0A3B3IS95, Q5U077
    Related
    ENSP00000229319.1, ENST00000350669.5
    Conserved Domains (1) summary
    cd05293
    Location:20 → 330
    LDH_1; A subgroup of L-lactate dehydrogenases

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    21635342..21657842 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719074.3 → XP_006719137.1  L-lactate dehydrogenase B chain isoform X1

    Conserved Domains (2) summary
    cd05293
    Location:20 → 279
    LDH_1; A subgroup of L-lactate dehydrogenases
    TIGR01771
    Location:26 → 279
    L-LDH-NAD; L-lactate dehydrogenase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    21513920..21536444 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372046.1 → XP_054228021.1  L-lactate dehydrogenase B chain isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P07195.2 GenPept UniProtKB/Swiss-Prot:P07195

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