LOCUS       NM_002300               1303 bp    mRNA    linear   PRI 17-JUN-2024
DEFINITION  Homo sapiens lactate dehydrogenase B (LDHB), transcript variant 1,
            mRNA.
ACCESSION   NM_002300
VERSION     NM_002300.8
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1303)
  AUTHORS   Zhang,P., Wan,Y., Ma,J., Gong,J., Zhong,Z., Cui,Y., Zhang,H.,
            Da,Y., Ma,J., Li,C., Liu,L., Gong,T., Tan,Y. and Zhang,C.
  TITLE     Epigenetic silencing of LDHB promotes hepatocellular carcinoma by
            remodeling the tumor microenvironment
  JOURNAL   Cancer Immunol Immunother 73 (7), 127 (2024)
   PUBMED   38739169
  REMARK    GeneRIF: Epigenetic silencing of LDHB promotes hepatocellular
            carcinoma by remodeling the tumor microenvironment.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1303)
  AUTHORS   Shi,F., Zhang,G., Li,J., Shu,L., Yu,C., Ren,D., Zhang,Y. and
            Zheng,P.
  TITLE     Integrated analysis of single cell-RNA sequencing and Mendelian
            randomization identifies lactate dehydrogenase B as a target of
            melatonin in ischemic stroke
  JOURNAL   CNS Neurosci Ther 30 (5), e14741 (2024)
   PUBMED   38702940
  REMARK    GeneRIF: Integrated analysis of single cell-RNA sequencing and
            Mendelian randomization identifies lactate dehydrogenase B as a
            target of melatonin in ischemic stroke.
REFERENCE   3  (bases 1 to 1303)
  AUTHORS   Cuozzo,F., Viloria,K., Shilleh,A.H., Nasteska,D., Frazer-Morris,C.,
            Tong,J., Jiao,Z., Boufersaoui,A., Marzullo,B., Rosoff,D.B.,
            Smith,H.R., Bonner,C., Kerr-Conte,J., Pattou,F., Nano,R.,
            Piemonti,L., Johnson,P.R.V., Spiers,R., Roberts,J., Lavery,G.G.,
            Clark,A., Ceresa,C.D.L., Ray,D.W., Hodson,L., Davies,A.P.,
            Rutter,G.A., Oshima,M., Scharfmann,R., Merrins,M.J., Akerman,I.,
            Tennant,D.A., Ludwig,C. and Hodson,D.J.
  TITLE     LDHB contributes to the regulation of lactate levels and basal
            insulin secretion in human pancreatic beta cells
  JOURNAL   Cell Rep 43 (4), 114047 (2024)
   PUBMED   38607916
  REMARK    GeneRIF: LDHB contributes to the regulation of lactate levels and
            basal insulin secretion in human pancreatic beta cells.
REFERENCE   4  (bases 1 to 1303)
  AUTHORS   Stiebler,A.C., Freitag,J., Schink,K.O., Stehlik,T., Tillmann,B.A.,
            Ast,J. and Bolker,M.
  TITLE     Ribosomal readthrough at a short UGA stop codon context triggers
            dual localization of metabolic enzymes in Fungi and animals
  JOURNAL   PLoS Genet 10 (10), e1004685 (2014)
   PUBMED   25340584
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1303)
  AUTHORS   Schueren,F., Lingner,T., George,R., Hofhuis,J., Dickel,C.,
            Gartner,J. and Thoms,S.
  TITLE     Peroxisomal lactate dehydrogenase is generated by translational
            readthrough in mammals
  JOURNAL   Elife 3, e03640 (2014)
   PUBMED   25247702
  REMARK    GeneRIF: The readthrough-extended lactate dehydrogenase subunit
            LDHBx can also co-import LDHA, the other LDH subunit, into
            peroxisomes.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1303)
  AUTHORS   Beier,H. and Grimm,M.
  TITLE     Misreading of termination codons in eukaryotes by natural nonsense
            suppressor tRNAs
  JOURNAL   Nucleic Acids Res 29 (23), 4767-4782 (2001)
   PUBMED   11726686
  REMARK    Review article
REFERENCE   7  (bases 1 to 1303)
  AUTHORS   Takeno,T. and Li,S.S.
  TITLE     Structure of the human lactate dehydrogenase B gene
  JOURNAL   Biochem J 257 (3), 921-924 (1989)
   PUBMED   2930497
REFERENCE   8  (bases 1 to 1303)
  AUTHORS   Sakai,I., Sharief,F.S., Pan,Y.C. and Li,S.S.
  TITLE     The cDNA and protein sequences of human lactate dehydrogenase B
  JOURNAL   Biochem J 248 (3), 933-936 (1987)
   PUBMED   3435492
REFERENCE   9  (bases 1 to 1303)
  AUTHORS   Law,M.L. and Kao,F.T.
  TITLE     Regional assignment of human genes TPI1, GAPDH, LDHB, SHMT, and
            PEPB on chromosome 12
  JOURNAL   Cytogenet Cell Genet 24 (2), 102-114 (1979)
   PUBMED   477403
REFERENCE   10 (bases 1 to 1303)
  AUTHORS   Rethore,M.O., Kaplan,J.C., Junien,C., Cruveiller,J., Dutrillaux,B.,
            Aurias,A., Carpentier,S., Lafourcade,J. and Lejeune.
  TITLE     [Increase of the LDH-B activity in a boy with 12p trisomy by
            malsegregation of a maternal translocation t(12;14) (q12;p11)]
  JOURNAL   Ann Genet 18 (2), 81-87 (1975)
   PUBMED   1081369
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010197.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_002300.7.
            
            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].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HM005565.1, BC002362.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267764 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000350669.5/ ENSP00000229319.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-92                AC010197.7         68206-68297         c
            93-227              AC010197.7         64998-65132         c
            228-345             AC010197.7         57354-57471         c
            346-519             AC010197.7         54390-54563         c
            520-693             AC010197.7         52407-52580         c
            694-811             AC010197.7         48808-48925         c
            812-935             AC010197.7         47526-47649         c
            936-1303            AC010197.7         45797-46164         c
FEATURES             Location/Qualifiers
     source          1..1303
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.1"
     gene            1..1303
                     /gene="LDHB"
                     /gene_synonym="HEL-S-281; LDH-B; LDH-H; LDHBD; TRG-5"
                     /note="lactate dehydrogenase B"
                     /db_xref="GeneID:3945"
                     /db_xref="HGNC:HGNC:6541"
                     /db_xref="MIM:150100"
     exon            1..92
                     /gene="LDHB"
                     /gene_synonym="HEL-S-281; LDH-B; LDH-H; LDHBD; TRG-5"
                     /inference="alignment:Splign:2.1.0"
     exon            93..227
                     /gene="LDHB"
                     /gene_synonym="HEL-S-281; LDH-B; LDH-H; LDHBD; TRG-5"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..1103
                     /gene="LDHB"
                     /gene_synonym="HEL-S-281; LDH-B; LDH-H; LDHBD; TRG-5"
                     /EC_number="1.1.1.27"
                     /note="isoform LDHB is encoded by transcript variant 1;
                     L-lactate dehydrogenase B chain; LDH heart subunit; renal
                     carcinoma antigen NY-REN-46; lactate dehydrogenase H
                     chain; epididymis secretory protein Li 281; testicular
                     secretory protein Li 25"
                     /codon_start=1
                     /product="L-lactate dehydrogenase B chain isoform LDHB"
                     /protein_id="NP_002291.1"
                     /db_xref="CCDS:CCDS8691.1"
                     /db_xref="GeneID:3945"
                     /db_xref="HGNC:HGNC:6541"
                     /db_xref="MIM:150100"
                     /translation="MATLKEKLIAPVAEEEATVPNNKITVVGVGQVGMACAISILGKS
                     LADELALVDVLEDKLKGEMMDLQHGSLFLQTPKIVADKDYSVTANSKIVVVTAGVRQQ
                     EGESRLNLVQRNVNVFKFIIPQIVKYSPDCIIIVVSNPVDILTYVTWKLSGLPKHRVI
                     GSGCNLDSARFRYLMAEKLGIHPSSCHGWILGEHGDSSVAVWSGVNVAGVSLQELNPE
                     MGTDNDSENWKEVHKMVVESAYEVIKLKGYTNWAIGLSVADLIESMLKNLSRIHPVST
                     MVKGMYGIENEVFLSLPCILNARGLTSVINQKLKDDEVAQLKKSADTLWDIQKDLKDL
                     "
     exon            228..345
                     /gene="LDHB"
                     /gene_synonym="HEL-S-281; LDH-B; LDH-H; LDHBD; TRG-5"
                     /inference="alignment:Splign:2.1.0"
     exon            346..519
                     /gene="LDHB"
                     /gene_synonym="HEL-S-281; LDH-B; LDH-H; LDHBD; TRG-5"
                     /inference="alignment:Splign:2.1.0"
     exon            520..693
                     /gene="LDHB"
                     /gene_synonym="HEL-S-281; LDH-B; LDH-H; LDHBD; TRG-5"
                     /inference="alignment:Splign:2.1.0"
     exon            694..811
                     /gene="LDHB"
                     /gene_synonym="HEL-S-281; LDH-B; LDH-H; LDHBD; TRG-5"
                     /inference="alignment:Splign:2.1.0"
     exon            812..935
                     /gene="LDHB"
                     /gene_synonym="HEL-S-281; LDH-B; LDH-H; LDHBD; TRG-5"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1303
                     /gene="LDHB"
                     /gene_synonym="HEL-S-281; LDH-B; LDH-H; LDHBD; TRG-5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1280..1285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDHB"
                     /gene_synonym="HEL-S-281; LDH-B; LDH-H; LDHBD; TRG-5"
                     /note="hexamer: AATAAA"
     polyA_site      1303
                     /gene="LDHB"
                     /gene_synonym="HEL-S-281; LDH-B; LDH-H; LDHBD; TRG-5"
                     /note="major polyA site"
ORIGIN      
        1 cttgcagagc cggcgccgga ggagacgcac gcagctgact ttgtcttctc cgcacgactg
       61 ttacagaggt ctccagagcc ttctctctcc tgtgcaaaat ggcaactctt aaggaaaaac
      121 tcattgcacc agttgcggaa gaagaggcaa cagttccaaa caataagatc actgtagtgg
      181 gtgttggaca agttggtatg gcgtgtgcta tcagcattct gggaaagtct ctggctgatg
      241 aacttgctct tgtggatgtt ttggaagata agcttaaagg agaaatgatg gatctgcagc
      301 atgggagctt atttcttcag acacctaaaa ttgtggcaga taaagattat tctgtgactg
      361 ccaattctaa gattgtagtg gtaactgcag gagtccgtca gcaagaaggg gagagtcggc
      421 tcaatctggt gcagagaaat gttaatgtct tcaaattcat tattcctcag atcgtcaagt
      481 acagtcctga ttgcatcata attgtggttt ccaacccagt ggacattctt acgtatgtta
      541 cctggaaact aagtggatta cccaaacacc gcgtgattgg aagtggatgt aatctggatt
      601 ctgctagatt tcgctacctt atggctgaaa aacttggcat tcatcccagc agctgccatg
      661 gatggatttt gggggaacat ggcgactcaa gtgtggctgt gtggagtggt gtgaatgtgg
      721 caggtgtttc tctccaggaa ttgaatccag aaatgggaac tgacaatgat agtgaaaatt
      781 ggaaggaagt gcataagatg gtggttgaaa gtgcctatga agtcatcaag ctaaaaggat
      841 ataccaactg ggctattgga ttaagtgtgg ctgatcttat tgaatccatg ttgaaaaatc
      901 tatccaggat tcatcccgtg tcaacaatgg taaaggggat gtatggcatt gagaatgaag
      961 tcttcctgag ccttccatgt atcctcaatg cccggggatt aaccagcgtt atcaaccaga
     1021 agctaaagga tgatgaggtt gctcagctca agaaaagtgc agataccctg tgggacatcc
     1081 agaaggacct aaaagacctg tgactagtga gctctaggct gtagaaattt aaaaactaca
     1141 atgtgattaa ctcgagcctt tagttttcat ccatgtacat ggatcacagt ttgctttgat
     1201 cttcttcaat atgtgaattt gggctcacag aatcaaagcc tatgcttggt ttaatgcttg
     1261 caatctgagc tcttgaacaa ataaaattaa ctattgtagt gtg
//
