LOCUS       NM_005276               2887 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens glycerol-3-phosphate dehydrogenase 1 (GPD1),
            transcript variant 1, mRNA.
ACCESSION   NM_005276
VERSION     NM_005276.4
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 2887)
  AUTHORS   Oh,S., Mai,X.L., Kim,J., de Guzman,A.C.V., Lee,J.Y. and Park,S.
  TITLE     Glycerol 3-phosphate dehydrogenases (1 and 2) in cancer and other
            diseases
  JOURNAL   Exp Mol Med 56 (5), 1066-1079 (2024)
   PUBMED   38689091
  REMARK    GeneRIF: Glycerol 3-phosphate dehydrogenases (1 and 2) in cancer
            and other diseases.
            Review article
REFERENCE   2  (bases 1 to 2887)
  AUTHORS   Oh,S., Jo,S., Bajzikova,M., Kim,H.S., Dao,T.T.P., Rohlena,J.,
            Kim,J.M., Neuzil,J. and Park,S.
  TITLE     Non-bioenergetic roles of mitochondrial GPD2 promote tumor
            progression
  JOURNAL   Theranostics 13 (2), 438-457 (2023)
   PUBMED   36632231
  REMARK    GeneRIF: Non-bioenergetic roles of mitochondrial GPD2 promote tumor
            progression.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2887)
  AUTHORS   Karaosmanoglu Yoneten,K., Kasap,M., Arga,K.Y., Akpinar,G. and
            Utkan,N.Z.
  TITLE     Decreased serum levels of glycerol-3- phosphate dehydrogenase 1 and
            monoacylglycerol lipase act as diagnostic biomarkers for breast
            cancer
  JOURNAL   Cancer Biomark 34 (1), 67-76 (2022)
   PUBMED   34657876
  REMARK    GeneRIF: Decreased serum levels of glycerol-3- phosphate
            dehydrogenase 1 and monoacylglycerol lipase act as diagnostic
            biomarkers for breast cancer.
REFERENCE   4  (bases 1 to 2887)
  AUTHORS   Liu,R., Feng,Y., Deng,Y., Zou,Z., Ye,J., Cai,Z., Zhu,X., Liang,Y.,
            Lu,J., Zhang,H., Luo,Y., Han,Z., Zhuo,Y., Xie,Q., Hon,C.T.,
            Liang,Y., Wu,C.L. and Zhong,W.
  TITLE     A HIF1alpha-GPD1 feedforward loop inhibits the progression of renal
            clear cell carcinoma via mitochondrial function and lipid
            metabolism
  JOURNAL   J Exp Clin Cancer Res 40 (1), 188 (2021)
   PUBMED   34098990
  REMARK    GeneRIF: A HIF1alpha-GPD1 feedforward loop inhibits the progression
            of renal clear cell carcinoma via mitochondrial function and lipid
            metabolism.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2887)
  AUTHORS   Basel-Vanagaite,L., Zevit,N., Har Zahav,A., Guo,L., Parathath,S.,
            Pasmanik-Chor,M., McIntyre,A.D., Wang,J., Albin-Kaplanski,A.,
            Hartman,C., Marom,D., Zeharia,A., Badir,A., Shoerman,O.,
            Simon,A.J., Rechavi,G., Shohat,M., Hegele,R.A., Fisher,E.A. and
            Shamir,R.
  TITLE     Transient infantile hypertriglyceridemia, fatty liver, and hepatic
            fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate
            dehydrogenase 1
  JOURNAL   Am J Hum Genet 90 (1), 49-60 (2012)
   PUBMED   22226083
  REMARK    GeneRIF: Mutation analysis revealed a homozygous splicing mutation,
            c.361-1G>C, which resulted in an aberrantly spliced mRNA in the ten
            affected individuals.
REFERENCE   6  (bases 1 to 2887)
  AUTHORS   Ou,X., Ji,C., Han,X., Zhao,X., Li,X., Mao,Y., Wong,L.L., Bartlam,M.
            and Rao,Z.
  TITLE     Crystal structures of human glycerol 3-phosphate dehydrogenase 1
            (GPD1)
  JOURNAL   J Mol Biol 357 (3), 858-869 (2006)
   PUBMED   16460752
  REMARK    GeneRIF: The apoenzyme structure of GPD1 has been determined; an
            electrophilic catalytic mechanism by the epsilon-NH3+ group of
            Lys204 is proposed on the basis of structural analyses.
REFERENCE   7  (bases 1 to 2887)
  AUTHORS   Menaya,J., Gonzalez-Manchon,C., Parrilla,R. and Ayuso,M.S.
  TITLE     Molecular cloning, sequencing and expression of a cDNA encoding a
            human liver NAD-dependent alpha-glycerol-3-phosphate dehydrogenase
  JOURNAL   Biochim Biophys Acta 1262 (1), 91-94 (1995)
   PUBMED   7772607
REFERENCE   8  (bases 1 to 2887)
  AUTHORS   Gwynn,B., Lyford,K.A. and Birkenmeier,E.H.
  TITLE     Sequence conservation and structural organization of the
            glycerol-3-phosphate dehydrogenase promoter in mice and humans
  JOURNAL   Mol Cell Biol 10 (10), 5244-5256 (1990)
   PUBMED   2398890
REFERENCE   9  (bases 1 to 2887)
  AUTHORS   Ruitenbeek,W. and Scholte,H.R.
  TITLE     Polyacrylamide gel technique for the histochemical demonstration of
            soluble enzymes
  JOURNAL   Histochemistry 50 (2), 81-89 (1976)
   PUBMED   1052094
REFERENCE   10 (bases 1 to 2887)
  AUTHORS   Hopkinson,D.A., Peters,J. and Harris,H.
  TITLE     Rare electrophoretic variants of glycerol-3-phosphate
            dehydrogenase: evidence for two structural gene loci (GPD1 and
            GPD2)
  JOURNAL   Ann Hum Genet 37 (4), 477-484 (1974)
   PUBMED   4415475
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC305085.1, BC032234.1,
            AK130162.1, CD244782.1, CA307120.1 and AI245302.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005276.3.
            
            Summary: This gene encodes a member of the NAD-dependent
            glycerol-3-phosphate dehydrogenase family. The encoded protein
            plays a critical role in carbohydrate and lipid metabolism by
            catalyzing the reversible conversion of dihydroxyacetone phosphate
            (DHAP) and reduced nicotine adenine dinucleotide (NADH) to
            glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein
            and mitochondrial glycerol-3-phosphate dehydrogenase also form a
            glycerol phosphate shuttle that facilitates the transfer of
            reducing equivalents from the cytosol to mitochondria. Mutations in
            this gene are a cause of transient infantile hypertriglyceridemia.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Mar
            2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: BC032234.1, SRR1803617.182291.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301149.8/ ENSP00000301149.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                DC305085.1         163-172
            11-1133             BC032234.1         1-1123
            1134-1660           AK130162.1         1065-1591
            1661-2171           CD244782.1         32-542
            2172-2723           CA307120.1         178-729             c
            2724-2887           AI245302.1         8-171               c
FEATURES             Location/Qualifiers
     source          1..2887
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..2887
                     /gene="GPD1"
                     /gene_synonym="GPD-C; GPDH-C; HTGTI"
                     /note="glycerol-3-phosphate dehydrogenase 1"
                     /db_xref="GeneID:2819"
                     /db_xref="HGNC:HGNC:4455"
                     /db_xref="MIM:138420"
     exon            1..84
                     /gene="GPD1"
                     /gene_synonym="GPD-C; GPDH-C; HTGTI"
                     /inference="alignment:Splign:2.1.0"
     CDS             44..1093
                     /gene="GPD1"
                     /gene_synonym="GPD-C; GPDH-C; HTGTI"
                     /EC_number="1.1.1.8"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glycerol-3-phosphate dehydrogenase [NAD+], cytoplasmic;
                     glycerophosphate dehydrogenase; glycerol-3-phosphate
                     dehydrogenase [NAD(+)], cytoplasmic; glycerol-3-phosphate
                     dehydrogenase 1 (soluble); epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="glycerol-3-phosphate dehydrogenase [NAD(+)],
                     cytoplasmic isoform 1"
                     /protein_id="NP_005267.2"
                     /db_xref="CCDS:CCDS8799.1"
                     /db_xref="GeneID:2819"
                     /db_xref="HGNC:HGNC:4455"
                     /db_xref="MIM:138420"
                     /translation="MASKKVCIVGSGNWGSAIAKIVGGNAAQLAQFDPRVTMWVFEED
                     IGGKKLTEIINTQHENVKYLPGHKLPPNVVAVPDVVQAAEDADILIFVVPHQFIGKIC
                     DQLKGHLKANATGISLIKGVDEGPNGLKLISEVIGERLGIPMSVLMGANIASEVADEK
                     FCETTIGCKDPAQGQLLKELMQTPNFRITVVQEVDTVEICGALKNVVAVGAGFCDGLG
                     FGDNTKAAVIRLGLMEMIAFAKLFCSGPVSSATFLESCGVADLITTCYGGRNRKVAEA
                     FARTGKSIEQLEKELLNGQKLQGPETARELYSILQHKGLVDKFPLFMAVYKVCYEGQP
                     VGEFIHCLQNHPEHM"
     exon            85..262
                     /gene="GPD1"
                     /gene_synonym="GPD-C; GPDH-C; HTGTI"
                     /inference="alignment:Splign:2.1.0"
     exon            263..403
                     /gene="GPD1"
                     /gene_synonym="GPD-C; GPDH-C; HTGTI"
                     /inference="alignment:Splign:2.1.0"
     exon            404..542
                     /gene="GPD1"
                     /gene_synonym="GPD-C; GPDH-C; HTGTI"
                     /inference="alignment:Splign:2.1.0"
     exon            543..655
                     /gene="GPD1"
                     /gene_synonym="GPD-C; GPDH-C; HTGTI"
                     /inference="alignment:Splign:2.1.0"
     exon            656..889
                     /gene="GPD1"
                     /gene_synonym="GPD-C; GPDH-C; HTGTI"
                     /inference="alignment:Splign:2.1.0"
     exon            890..996
                     /gene="GPD1"
                     /gene_synonym="GPD-C; GPDH-C; HTGTI"
                     /inference="alignment:Splign:2.1.0"
     exon            997..2887
                     /gene="GPD1"
                     /gene_synonym="GPD-C; GPDH-C; HTGTI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1643..1648
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPD1"
                     /gene_synonym="GPD-C; GPDH-C; HTGTI"
                     /note="hexamer: AATACA"
     polyA_site      1663
                     /gene="GPD1"
                     /gene_synonym="GPD-C; GPDH-C; HTGTI"
                     /note="major polyA site"
     regulatory      2864..2869
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPD1"
                     /gene_synonym="GPD-C; GPDH-C; HTGTI"
                     /note="hexamer: AATAAA"
     polyA_site      2887
                     /gene="GPD1"
                     /gene_synonym="GPD-C; GPDH-C; HTGTI"
ORIGIN      
        1 agggagtgtg gcactgagcc ggctcaggca gagacgcggc accatggcta gcaagaaagt
       61 ctgcattgta ggctccggga actggggctc agccatcgcc aagatcgtgg gtggcaatgc
      121 agcccagctg gcacagtttg acccacgggt gaccatgtgg gtatttgagg aagacattgg
      181 aggcaaaaag ctgactgaga tcatcaacac gcagcatgag aatgtcaaat acctgccagg
      241 gcacaagttg cccccaaatg tggtggctgt cccagatgtg gtccaggctg cagaggatgc
      301 tgacatcctg atctttgtgg tgccccatca gttcatcggc aagatctgtg accagctcaa
      361 gggccatctg aaggcaaacg ccactggcat atctcttatt aagggggtag acgagggccc
      421 caatgggctg aagctcatct cggaagtgat tggggagcgc ctcggcatcc ccatgagtgt
      481 gctgatgggg gccaacattg ccagcgaggt ggctgatgag aagttctgtg agacaaccat
      541 tggctgcaag gacccggccc agggacaact cctgaaagag ctgatgcaga caccaaactt
      601 ccgtatcaca gtggtgcaag aggtggacac agtagagatc tgtggagcct taaagaatgt
      661 agtggccgtg ggggctggct tctgtgatgg cctgggcttt ggcgacaaca ccaaggcggc
      721 agtgatccgg ctgggactca tggagatgat agccttcgcc aagctcttct gcagtggccc
      781 tgtgtcctct gccaccttct tggagagctg tggtgttgct gacctgatca ctacctgcta
      841 tggagggcgg aaccggaaag tggctgaggc ctttgcgcgt acaggaaagt ccattgagca
      901 gctggagaaa gagttgctga atgggcagaa actgcagggg cccgagacag cccgggagct
      961 atacagcatc ctccagcaca agggcctggt agacaagttt cccttgttca tggctgtgta
     1021 caaggtgtgc tacgagggcc agccagtggg tgaattcatc cactgcctgc agaatcatcc
     1081 agaacatatg tgagtggggc cagggcccag gccaggccgc ttttttaccc cagtggagac
     1141 cagcagaagc ctggggtacc tagtcaccag gatctccagg actcccaggg agcagagtct
     1201 tctcatcttt tcactggagg acaggaggct atggggccca gctacgcacc tggagatcct
     1261 gaactgtcaa gccactggca gcctcatgcc accacatttg ccagaaatgc agttgccctg
     1321 tccctctcca gatgtggggc tttctccata tcctctggga ggggtggaat caagccccag
     1381 tgctgcctgc ttggtggcgg gggtgatgta tgtggagaag ggttggggga gaggccggta
     1441 gggcaggggc tgctagtggc tgtctcacat acaccagtaa tcctgttaaa gggctgaaga
     1501 agtatcttag ccacaggagc gatgaggcaa ggattgtcag ggaggggtct gggcttctga
     1561 gctgatgcag gccccaagga cccctttgct gacctctgcc aggacccaca cagcttcgat
     1621 ggatctcagt gtttgttaac aaaatacaaa gatctcaaac aaaccccttt tagcttctcc
     1681 tagcaacatc tgtgtcctca gaaacctctg gttctccccc ttccccctcc cccaggctgc
     1741 cctggcaccc aaattgctgc catgctggca tctgtagctc ggtggcttga cattctcccc
     1801 agggacttcc cggttcctag ttctttgcca gctcctcccc actctgtgcg acctttccaa
     1861 gccttccctc accctccccg ccagcaccct ctttggggag caggaactta atctgctgac
     1921 agagctacac ctttcataac aggctcagat cactcagctc cctgtgacct ttgtattcac
     1981 ccaggcttcc ttctcagtag ctctagctgg gggaggtgtc agctgggccc ctcctgtgct
     2041 atctccccag aggacatccc tgactccacc cctttcttcc tcccaaactc tgcacctctt
     2101 cctcagctgc tccagaccgg ccagggtaac cagctaacca tgcctggcat ctggaagcca
     2161 gcaggccaga gggtggccca aaggctgatg aacggtaggg aagggtgagc agattcctat
     2221 gttggtgggc accaatattc caagggcagc tctctttgct gaatgagggc cttctcgtga
     2281 ggtactgaca acaccagcaa ctcgagagct gggaaactca aggaggagga agaaaatcaa
     2341 aaccacccta ctccctgggg tgaggaaaga acaggagggg aggaggagga gtgtgctctg
     2401 cacttgcctt gctccaggat ggggtggcag cagaggaatg tcacaggtca gcagcctagg
     2461 cctccagcta taaatagtcc ggagggcccg agaggctccc gcccgtccag cagggctgtc
     2521 agcttcctgt gtggcagcac ctggcacact ggctctggcc agcattatgc taaaaccctg
     2581 ttactctcca atgaaccagg gaggcgggct cctctctgcg cctatccctt gagaattctg
     2641 tcttaccagt gaagggtggg gctgcccaga tcaggcagca ggagtgaggg gcacagtcac
     2701 cccaggcctt gctgagccca ggtctgggta ctgagtgtcc agagctgcct ccccaggagg
     2761 ttaaggtggg ggcaaagggg aagcttcaag cactttgcct acttttgttc actccccagt
     2821 gcactgtgac tcaggccttc ccatcaggcc tatttgtcta cccaataaag cgtgtttttt
     2881 ccagaaa
//
