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    LDHB lactate dehydrogenase B [ Homo sapiens (human) ]

    Gene ID: 3945, updated on 10-Dec-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
    mouse all
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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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. High lactate dehydrogenase levels at admission for painful vaso-occlusive crisis is associated with severe outcome in adult SCD patients. Stankovic Stojanovic K, et al. Clin Biochem, 2012 Dec. PMID 22892192
    2. Lactate metabolism is associated with mammalian mitochondria. Chen YJ, et al. Nat Chem Biol, 2016 Nov. PMID 27618187, Free PMC Article
    3. Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit. Maekawa M, et al. Hum Genet, 1993 Jun. PMID 8314553
    4. Lactate dehydrogenase-B is silenced by promoter methylation in a high frequency of human breast cancers. Brown NJ, et al. PLoS One, 2013. PMID 23437403, Free PMC Article
    5. Detection and characterization of new genetic mutations in individuals heterozygous for lactate dehydrogenase-B(H) deficiency using DNA conformation polymorphism analysis and silver staining. Maekawa M, et al. Hum Genet, 1993 Mar. PMID 8462975

    See all (283) 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
    		Compare labs

    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
      UniProtKB/TrEMBL
      A8MW50
      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

    Gene LinkOut

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