LOCUS       NM_015141               3947 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens glycerol-3-phosphate dehydrogenase 1 like (GPD1L),
            mRNA.
ACCESSION   NM_015141
VERSION     NM_015141.4
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 3947)
  AUTHORS   Leung,P.K.H., Das,B., Cheng,X. and Tarazi,M.
  TITLE     Prognostic and Predictive Utility of GPD1L in Human Hepatocellular
            Carcinoma
  JOURNAL   Int J Mol Sci 24 (17), 13113 (2023)
   PUBMED   37685919
  REMARK    GeneRIF: Prognostic and Predictive Utility of GPD1L in Human
            Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3947)
  AUTHORS   Liu,T., Zhu,H., Ge,M., Pan,Z., Zeng,Y., Leng,Y., Yang,K. and
            Cheng,F.
  TITLE     GPD1L inhibits renal cell carcinoma progression by regulating
            PINK1/Parkin-mediated mitophagy
  JOURNAL   J Cell Mol Med 27 (16), 2328-2339 (2023)
   PUBMED   37382962
  REMARK    GeneRIF: GPD1L inhibits renal cell carcinoma progression by
            regulating PINK1/Parkin-mediated mitophagy.
REFERENCE   3  (bases 1 to 3947)
  AUTHORS   Hao,H., Yan,S., Zhao,X., Han,X., Fang,N., Zhang,Y., Dai,C., Li,W.,
            Yu,H., Gao,Y., Wang,D., Gao,Q., Duan,Y., Yuan,Y. and Li,Y.
  TITLE     Atrial myocyte-derived exosomal microRNA contributes to atrial
            fibrosis in atrial fibrillation
  JOURNAL   J Transl Med 20 (1), 407 (2022)
   PUBMED   36064558
  REMARK    GeneRIF: Atrial myocyte-derived exosomal microRNA contributes to
            atrial fibrosis in atrial fibrillation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3947)
  AUTHORS   Liu,H., Wang,S., Cheng,A., Han,Z., Feng,Z. and Guo,C.
  TITLE     GPD1L is negatively associated with HIF1alpha expression and
            predicts lymph node metastasis in oral and HPV- Oropharyngeal
            cancer
  JOURNAL   Oral Dis 27 (7), 1654-1666 (2021)
   PUBMED   33107174
  REMARK    GeneRIF: GPD1L is negatively associated with HIF1alpha expression
            and predicts lymph node metastasis in oral and HPV- Oropharyngeal
            cancer.
REFERENCE   5  (bases 1 to 3947)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 3947)
  AUTHORS   Valdivia,C.R., Ueda,K., Ackerman,M.J. and Makielski,J.C.
  TITLE     GPD1L links redox state to cardiac excitability by PKC-dependent
            phosphorylation of the sodium channel SCN5A
  JOURNAL   Am J Physiol Heart Circ Physiol 297 (4), H1446-H1452 (2009)
   PUBMED   19666841
  REMARK    GeneRIF: GPD1L links redox state to cardiac excitability by
            PKC-dependent phosphorylation of the sodium channel SCN5A.
REFERENCE   7  (bases 1 to 3947)
  AUTHORS   Makiyama,T., Akao,M., Haruna,Y., Tsuji,K., Doi,T., Ohno,S.,
            Nishio,Y., Kita,T. and Horie,M.
  TITLE     Mutation analysis of the glycerol-3 phosphate dehydrogenase-1 like
            (GPD1L) gene in Japanese patients with Brugada syndrome
  JOURNAL   Circ J 72 (10), 1705-1706 (2008)
   PUBMED   18762705
  REMARK    GeneRIF: No non-synonymous mutations were found, indicating that
            GPD1L does not appear to be a major cause of Brugada syndrome in a
            Japanese population.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 3947)
  AUTHORS   London,B., Michalec,M., Mehdi,H., Zhu,X., Kerchner,L., Sanyal,S.,
            Viswanathan,P.C., Pfahnl,A.E., Shang,L.L., Madhusudanan,M.,
            Baty,C.J., Lagana,S., Aleong,R., Gutmann,R., Ackerman,M.J.,
            McNamara,D.M., Weiss,R. and Dudley,S.C. Jr.
  TITLE     Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L)
            decreases cardiac Na+ current and causes inherited arrhythmias
  JOURNAL   Circulation 116 (20), 2260-2268 (2007)
   PUBMED   17967977
  REMARK    GeneRIF: A GPD1-L mutation decreases SCN5A surface membrane
            expression, reduces inward Na+ current, and causes Brugada syndrome
REFERENCE   9  (bases 1 to 3947)
  AUTHORS   Van Norstrand,D.W., Valdivia,C.R., Tester,D.J., Ueda,K., London,B.,
            Makielski,J.C. and Ackerman,M.J.
  TITLE     Molecular and functional characterization of novel
            glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations
            in sudden infant death syndrome
  JOURNAL   Circulation 116 (20), 2253-2259 (2007)
   PUBMED   17967976
  REMARK    GeneRIF: mutations in GPD1-L as a pathogenic cause for a small
            subset of sudden infant death syndrome via a secondary
            loss-of-function mechanism
REFERENCE   10 (bases 1 to 3947)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301690
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA318838.1, AK292808.1,
            BC028726.2, BX283865.1 and AI080105.1.
            
            On Nov 30, 2019 this sequence version replaced NM_015141.3.
            
            Summary: The protein encoded by this gene catalyzes the conversion
            of sn-glycerol 3-phosphate to glycerone phosphate. The encoded
            protein is found in the cytoplasm, associated with the plasma
            membrane, where it binds the sodium channel, voltage-gated, type V,
            alpha subunit (SCN5A). Defects in this gene are a cause of Brugada
            syndrome type 2 (BRS2) as well as sudden infant death syndrome
            (SIDS). [provided by RefSeq, Jul 2010].
            
            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 :: BC028726.2, D42047.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000282541.10/ ENSP00000282541.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-58                DA318838.1         110-167
            59-1525             AK292808.1         1-1467
            1526-2640           BC028726.2         1494-2608
            2641-2958           BX283865.1         188-505
            2959-3942           BC028726.2         2927-3910
            3943-3947           AI080105.1         13-17               c
FEATURES             Location/Qualifiers
     source          1..3947
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.3"
     gene            1..3947
                     /gene="GPD1L"
                     /gene_synonym="GPD1-L"
                     /note="glycerol-3-phosphate dehydrogenase 1 like"
                     /db_xref="GeneID:23171"
                     /db_xref="HGNC:HGNC:28956"
                     /db_xref="MIM:611778"
     exon            1..139
                     /gene="GPD1L"
                     /gene_synonym="GPD1-L"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..1148
                     /gene="GPD1L"
                     /gene_synonym="GPD1-L"
                     /EC_number="1.1.1.8"
                     /codon_start=1
                     /product="glycerol-3-phosphate dehydrogenase 1-like
                     protein"
                     /protein_id="NP_055956.1"
                     /db_xref="CCDS:CCDS33729.1"
                     /db_xref="GeneID:23171"
                     /db_xref="HGNC:HGNC:28956"
                     /db_xref="MIM:611778"
                     /translation="MAAAPLKVCIVGSGNWGSAVAKIIGNNVKKLQKFASTVKMWVFE
                     ETVNGRKLTDIINNDHENVKYLPGHKLPENVVAMSNLSEAVQDADLLVFVIPHQFIHR
                     ICDEITGRVPKKALGITLIKGIDEGPEGLKLISDIIREKMGIDISVLMGANIANEVAA
                     EKFCETTIGSKVMENGLLFKELLQTPNFRITVVDDADTVELCGALKNIVAVGAGFCDG
                     LRCGDNTKAAVIRLGLMEMIAFARIFCKGQVSTATFLESCGVADLITTCYGGRNRRVA
                     EAFARTGKTIEELEKEMLNGQKLQGPQTSAEVYRILKQKGLLDKFPLFTAVYQICYES
                     RPVQEMLSCLQSHPEHT"
     exon            140..317
                     /gene="GPD1L"
                     /gene_synonym="GPD1-L"
                     /inference="alignment:Splign:2.1.0"
     exon            318..458
                     /gene="GPD1L"
                     /gene_synonym="GPD1-L"
                     /inference="alignment:Splign:2.1.0"
     exon            459..597
                     /gene="GPD1L"
                     /gene_synonym="GPD1-L"
                     /inference="alignment:Splign:2.1.0"
     exon            598..710
                     /gene="GPD1L"
                     /gene_synonym="GPD1-L"
                     /inference="alignment:Splign:2.1.0"
     exon            711..944
                     /gene="GPD1L"
                     /gene_synonym="GPD1-L"
                     /inference="alignment:Splign:2.1.0"
     exon            945..1051
                     /gene="GPD1L"
                     /gene_synonym="GPD1-L"
                     /inference="alignment:Splign:2.1.0"
     exon            1052..3947
                     /gene="GPD1L"
                     /gene_synonym="GPD1-L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3926..3931
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPD1L"
                     /gene_synonym="GPD1-L"
                     /note="hexamer: AATAAA"
     polyA_site      3947
                     /gene="GPD1L"
                     /gene_synonym="GPD1-L"
                     /note="major polyA site"
ORIGIN      
        1 gccgccgcca gccgctgcgg gcaaggctga acaggcggag gtgggcagcc ggccagggaa
       61 gcacggtcca ggcggctaca ttcggcccgg ccatggcagc ggcgcccctg aaagtgtgca
      121 tcgtgggctc ggggaactgg ggttcagctg ttgcaaaaat aattggtaat aatgtcaaga
      181 aacttcagaa atttgcctcc acagtcaaga tgtgggtctt tgaagaaaca gtgaatggca
      241 gaaaactgac agacatcata aataatgacc atgaaaatgt aaaatatctt cctggacaca
      301 agctgccaga aaatgtggtt gccatgtcaa atcttagcga ggctgtgcag gatgcagacc
      361 tgctggtgtt tgtcattccc caccagttca ttcacagaat ctgtgatgag atcactggga
      421 gagtgcccaa gaaagcgctg ggaatcaccc tcatcaaggg catagacgag ggccccgagg
      481 ggctgaagct catttctgac atcatccgtg agaagatggg tattgacatc agtgtgctga
      541 tgggagccaa cattgccaat gaggtggctg cagagaagtt ctgtgagacc accatcggca
      601 gcaaagtaat ggagaacggc cttctcttca aagaacttct gcagactcca aattttcgaa
      661 ttaccgtggt tgatgatgca gacactgttg aactctgtgg tgcgcttaag aacatcgtag
      721 ctgtgggagc tgggttctgc gacggcctcc gctgtggaga caacaccaaa gcggccgtca
      781 tccgcctggg actcatggaa atgattgctt ttgccaggat cttctgcaaa ggccaagtgt
      841 ctacagccac cttcctagag agctgcgggg tggccgacct gatcaccacc tgttacggag
      901 ggcggaaccg cagggtggcc gaggccttcg ccagaactgg gaagaccatt gaagagttgg
      961 agaaggagat gctgaatggg caaaagctcc aaggaccgca gacttctgct gaagtgtacc
     1021 gcatcctcaa acagaaggga ctactggaca agtttccatt gtttactgca gtgtatcaga
     1081 tctgctacga aagcagacca gttcaagaga tgttgtcttg tcttcagagc catccagagc
     1141 atacataaag tgaatcatgc aacgtgttgg gggaagttct gcctttctga tcaatctttt
     1201 gggttcacgt ggaaaccagg acttggcaac atgatgtttg actgtaatct catcacggat
     1261 atgtatgaat ttttacaggt tcgtttttga attgtgagag gcagttcatt agcaaagatg
     1321 tactgggcag taactaaaca cacatgcaaa catgtgaatg gtggtttatt cctcattctg
     1381 tggatgtttc tatgagccaa aatttgatgt ctttttttca aaattgctta tgaaatttcc
     1441 acacaatcgt agcttataag attggaacga tctcagccaa atattttagg tgtaattcat
     1501 atgtatttga gtggaggatt ttttttctca tttttctagt gttaaatttt aaccagcatt
     1561 aacatggtag agtggaggag tgagtgtgtt caaagatcaa catatttaac ttttaaacac
     1621 tatctcaaag ccagcataat taactacttt gattgtgggc tgacctttgt ttttttaaca
     1681 atcaggcatt tttaattaga taatccactc atgtatttcc ccctcactgc agttgtctgc
     1741 atttttagcc tcttttctct tcgttagttg tcagaatatg ccttcgtcaa ggctcagagg
     1801 taacaagaca gaaaattcat ctgggatttt cctgctgtgg ctggcacatt cttctgatta
     1861 acagacactt gtatgatgct ttaggctagt tagtgcattt tttagcaaac atttatctta
     1921 aacatcacag atccactggg gggtgcaagg ggctactgtt agtcctcttg ttagatgcag
     1981 tcactcctcc tggtcaccta gtgagcaggg acagagccag gagtcaagtg cagtgccaag
     2041 gtgcatgacc ctctgagaag tcactgggct gatttgacct ccgactcatt ggttgtgcaa
     2101 atgccatgtg cagcctttcc tgaggccata ggagggcttc ctgcagctga gatctatgca
     2161 ggccatcctc tcaacaagtg ccactccaag ggcggtcctc ggtgcagcag catcagcttc
     2221 acttgtgggg gggtggggga aggggcggtc tcagaaatgc aggttcccag gtcccaccct
     2281 ggacttctga aggggtgtgg catctgtgtt tctgatgctt actacaatat gtgaaccact
     2341 actttagaaa atctgcttta acttggtatt cctctaattg tgttccctag gaaatgactg
     2401 tcccaagagc cagtgattat tccaggtgtt ccctggaaag gtcaagtgag tctgggaaac
     2461 actatgtctg tacacctctt gaaggtgtcg aatgtatgtt tatacatcag tggaacccat
     2521 ttttctagcc tagcaagtcc caaacacatt acactgaaga gattttggtg aggaaacttg
     2581 ctggagtttt cagggaacac tgttctaggc ttaggtgacc ttaggatcac tcaagtagac
     2641 ccttcactcc ctgcgagaaa ttaggatgaa taactacctg tggcattgtt ggttctgaac
     2701 ttttacagtt caggcctgct gtgaatcttt gatgaagctt taaggtgaca ctgttgtaca
     2761 agatgtcagc tttgctgaaa cgcacattac ctggaataag tgctttaatt gtagaattag
     2821 aatgggattt actgtactgt tttaaatgag attggcttca gaatccatta cagttacctt
     2881 acatagcact tgatacgtgt taaatgaaca tatgaatgta atttatatat tcctagaatt
     2941 taagttactt tgtgagattt gggcctgtcc ctcaatgcca gtttaggatt tctttttttc
     3001 tataccttga aatgattata aaatagattt tcatgggaat tttaaaaact ctatccaaaa
     3061 catttttgga gcattttaaa gccccataca cagaagtata cgaaagcaca caaaacactc
     3121 caagtttcag cagttttagc gccaccatta acccactttg cttgtctcat gaaaaatctt
     3181 tgttaaagtt tgtacacagg taacaaaaag ttactttaaa agatatataa agggctgtaa
     3241 gctaattgtg gtgtctagta agtagcataa tgagatgtga ggagttggaa ctttgcgtgt
     3301 tttgcgtatt ttcatctgca ttcagcttct tactctgggt ttgtactcga gtgttatttc
     3361 tttacaaatg cccttgtaat taccactctg aagtctgctg actgtgtctc ttgaacatac
     3421 ttaggatatt ctgcacatta tggaaaaagg taaattttag aagtttctgc tctactaact
     3481 gtagatattt atgactctgc gagttatcta tttttataac cacctgtggt ccattgttca
     3541 ttttaattca catttcttat gaagtatggt aacagggagg gagacaccta gattagcagc
     3601 tcaatttgta ctacttcagc caatctgtga atgtaaaaac tacactgttg ccttgctagg
     3661 atccaccctc ctataatatg gaacaaatat ctgaatgaaa tccaccctag gagacggagt
     3721 caaactaaac ttgtggtttt tcatttaact tttgactaca gcatggcccc atggcatcca
     3781 caccaagagg gtgttgtgat gaggtgccgg tgtgcaaagg gaactttagt ttttccactg
     3841 gttcttatct gctagccttt tacatacatg tgtactatat ttgtttatag actgtaggtg
     3901 gatatataat ttaaaagctt gatttaataa acatttaacc ccctaaa
//
