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    LDHB lactate dehydrogenase B [ Homo sapiens ]

    Gene ID: 3945, updated on 20-May-2012
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    Summary

    Official Symbol
    LDHBprovided by HGNC
    Official Full Name
    lactate dehydrogenase Bprovided by HGNC
    Primary source
    HGNC:6541
    See related
    Ensembl:ENSG00000111716; HPRD:01026; MIM:150100; Vega:OTTHUMG00000133760
    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
    Summary
    This gene encodes an enzyme which catalyzes the reversible conversion of lactate and pyruvate, and NAD and NADH, in the glycolytic pathway. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on the X chromosome and on chromosome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2010]
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    Genomic context

    Location :
    12p12.2-p12.1
    Sequence :
    Chromosome: 12; NC_000012.11 (21788275..21810789, complement)
    See LDHB in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene chromosome 12 open reading frame 39 Neighboring gene glycogen synthase 2 (liver) Neighboring gene potassium inwardly-rectifying channel, subfamily J, member 8 Neighboring gene ATP-binding cassette, sub-family C (CFTR/MRP), member 9

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Serum creatine kinase and lactate dehydrogenase activities in patients with thyroid disorders. McGrowder DA, et al. Niger J Clin Pract, 2011 Oct-Dec. PMID 22248949.
    2. 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.
    3. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    4. Global identification of modular cullin-RING ligase substrates. Emanuele MJ, et al. Cell, 2011 Oct 14. PMID 21963094.
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.

    See all (51) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. The significant elevation in serum CK [creatine kinase ]and LDH [L-Lactate Dehydrogenase ] activities indicates that these can be used as parameters for screening hypothyroid patients but not hyperthyroid patients.
      Title: Serum creatine kinase and lactate dehydrogenase activities in patients with thyroid disorders.
    2. results confirmed the prognostic roles of LDH-B in urinary bladder urothelial carcinoma.
      Title: Loss of lactate dehydrogenase B subunit expression is correlated with tumour progression and independently predicts inferior disease-specific survival in urinary bladder urothelial carcinoma.
    3. Results show that S-100B, MIA and LDH levels were significantly higher in patients with advanced melanoma than in disease-free patients or healthy controls.
      Title: Evaluation of multiple serum markers in advanced melanoma.
    4. Results suggest that lactate dehydrogenase B suppression plays an important role in triggering or maintaining the mitochondrial defects and then contributes to cancer cell invasiveness by inducing claudin-1 protein.
      Title: Decreased lactate dehydrogenase B expression enhances claudin 1-mediated hepatoma cell invasiveness via mitochondrial defects.
    5. Elevated serum LDH isoenzymes and AST indicate a disturbance (of uncertain clinical significance) within multiple extraosseous tissues when there is CLCN7 deficiency.
      Title: Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.
    6. findings offer proof of concept for targeting LDHB as a therapeutic strategy in cancers driven by aberrant activation of the RTK-PI3K-AKT-mTOR signaling cascade
      Title: Lactate dehydrogenase B is critical for hyperactive mTOR-mediated tumorigenesis.
    7. Presented are QM/MM calculations that show differences in geometries of active sites of M(4) and H(4) isoforms of human LDH ligated with oxamate, pyruvate or L-lactate.
      Title: Differences and similarities in binding of pyruvate and L-lactate in the active site of M4 and H4 isoforms of human lactate dehydrogenase.
    8. S100B and LDH are not expressed in sentinel node progression of melanoma
      Title: Serum S100B and LDH are not useful in predicting the sentinel node status in melanoma patients.
    9. MYC, LDHB, and CCNB1 may have roles in progression of medulloblastoma
      Title: Molecular risk stratification of medulloblastoma patients based on immunohistochemical analysis of MYC, LDHB, and CCNB1 expression.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction See all (11)
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    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Lactate dehydrogenase-B deficiency

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 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
    Tat 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

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P07195 P07195 LDHB    HPRD  PubMed  
    P07195 Q6EEV6 SUMO4    HPRD  PubMed  
    BioGRID:110137 BioGRID:107582 CKS1B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110137 BioGRID:107583 CKS2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110137 BioGRID:971788 EBNA-LP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110137 BioGRID:109268 H2AFX    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110137 BioGRID:110137 LDHB    BioGRID  PubMed Co-crystal Structure 
    BioGRID:110137 BioGRID:204968 Mapk13    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110137 BioGRID:113188 SUMO1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110137 BioGRID:132223 SUMO4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110137 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-lactate dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    NAD binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    NAD metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    cellular carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    glycolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    lactate metabolic 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
    		  
    Component Evidence Code Pubs
    cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    soluble fraction IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    L-lactate dehydrogenase B chain
    Names
    L-lactate dehydrogenase B chain
    LDH heart subunit
    lactate dehydrogenase H chain
    renal carcinoma antigen NY-REN-46
    NP_001167568.1
    NP_002291.1
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    NCBI Reference Sequences (RefSeq)

    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_017038.1 RefSeqGene

      Range
      5001..27515
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001174097.1 → NP_001167568.1  L-lactate dehydrogenase B chain

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC010197, AL516910, CX867875
      Consensus CDS
      CCDS8691.1
      UniProtKB/Swiss-Prot
      P07195
      UniProtKB/TrEMBL
      Q5U077
      Related
      ENSP00000379386, OTTHUMP00000165229, ENST00000396076, OTTHUMT00000258220
      Conserved Domains (2) summary
      cd05293
      Location:20 – 330
      Blast Score: 1529
      LDH_1; A subgroup of L-lactate dehydrogenases
      TIGR01771
      Location:26 – 326
      Blast Score: 1135
      L-LDH-NAD; L-lactate dehydrogenase

    2. NM_002300.6 → NP_002291.1  L-lactate dehydrogenase B chain

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC010197, BC015122
      Consensus CDS
      CCDS8691.1
      UniProtKB/Swiss-Prot
      P07195
      UniProtKB/TrEMBL
      Q5U077
      Related
      ENSP00000229319, OTTHUMP00000165228, ENST00000350669, OTTHUMT00000258219
      Conserved Domains (2) summary
      cd05293
      Location:20 – 330
      Blast Score: 1529
      LDH_1; A subgroup of L-lactate dehydrogenases
      TIGR01771
      Location:26 – 326
      Blast Score: 1135
      L-LDH-NAD; L-lactate dehydrogenase

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      21788275..21810789, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      21561869..21584405, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC010197.7 (45795..68309) None
    genomic CH471094.1 EAW96448.1
      EAW96449.1
    genomic EU919185.1 ACF98331.1
    genomic X13794.1 CAA32033.1
    genomic X13800.1 None
    mRNA AB209231.1 BAD92468.1
    mRNA AK129881.1 None
    mRNA AK312328.1 BAG35250.1
    mRNA AL516910.3 None
    mRNA AY189689.1 AAO85222.1
    mRNA BC002362.1 AAH02362.1
    mRNA BC015122.1 AAH15122.1
    mRNA BC022835.1 None
    mRNA BC071860.1 AAH71860.1
    mRNA BT019764.1 AAV38569.1
    mRNA BT019765.1 AAV38570.1
    mRNA CX867875.1 None
    mRNA D28368.1 BAA05734.1
    mRNA Y00711.1 CAA68701.1
    other-genetic DQ891854.2 ABM82780.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07195.2 GenPept UniProtKB/Swiss-Prot:P07195
    Q59G78 GenPept UniProtKB/TrEMBL:Q59G78
    Q5U077 GenPept UniProtKB/TrEMBL:Q5U077
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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