LOCUS       NM_018667               5271 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens sphingomyelin phosphodiesterase 3 (SMPD3), mRNA.
ACCESSION   NM_018667 NM_024703
VERSION     NM_018667.4
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 5271)
  AUTHORS   Schempp,R., Eilts,J., Schol,M., Grijalva Yepez,M.F., Fekete,A.,
            Wigger,D., Schumacher,F., Kleuser,B., van Ham,M., Jansch,L.,
            Sauer,M. and Avota,E.
  TITLE     The Role of Neutral Sphingomyelinase-2 (NSM2) in the Control of
            Neutral Lipid Storage in T Cells
  JOURNAL   Int J Mol Sci 25 (6), 3247 (2024)
   PUBMED   38542220
  REMARK    GeneRIF: The Role of Neutral Sphingomyelinase-2 (NSM2) in the
            Control of Neutral Lipid Storage in T Cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5271)
  AUTHORS   El-Amouri,S., Karakashian,A., Bieberich,E. and
            Nikolova-Karakashian,M.
  TITLE     Regulated translocation of neutral sphingomyelinase-2 to the plasma
            membrane drives insulin resistance in steatotic hepatocytes
  JOURNAL   J Lipid Res 64 (10), 100435 (2023)
   PUBMED   37640282
  REMARK    GeneRIF: Regulated translocation of neutral sphingomyelinase-2 to
            the plasma membrane drives insulin resistance in steatotic
            hepatocytes.
REFERENCE   3  (bases 1 to 5271)
  AUTHORS   Pavlic,A., Poelman,H., Wasilewski,G., Wichapong,K., Lux,P.,
            Maassen,C., Lutgens,E., Schurgers,L.J., Reutelingsperger,C.P. and
            Nicolaes,G.A.F.
  TITLE     Inhibition of Neutral Sphingomyelinase 2 by Novel Small Molecule
            Inhibitors Results in Decreased Release of Extracellular Vesicles
            by Vascular Smooth Muscle Cells and Attenuated Calcification
  JOURNAL   Int J Mol Sci 24 (3), 2027 (2023)
   PUBMED   36768348
  REMARK    GeneRIF: Inhibition of Neutral Sphingomyelinase 2 by Novel Small
            Molecule Inhibitors Results in Decreased Release of Extracellular
            Vesicles by Vascular Smooth Muscle Cells and Attenuated
            Calcification.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5271)
  AUTHORS   Zietzer,A., Jahnel,A.L., Bulic,M., Gutbrod,K., Dusing,P.,
            Hosen,M.R., Dormann,P., Werner,N., Nickenig,G. and Jansen,F.
  TITLE     Activation of neutral sphingomyelinase 2 through hyperglycemia
            contributes to endothelial apoptosis via vesicle-bound
            intercellular transfer of ceramides
  JOURNAL   Cell Mol Life Sci 79 (1), 48 (2021)
   PUBMED   34951654
  REMARK    GeneRIF: Activation of neutral sphingomyelinase 2 through
            hyperglycemia contributes to endothelial apoptosis via
            vesicle-bound intercellular transfer of ceramides.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5271)
  AUTHORS   Kalinichenko,L.S., Muhle,C., Jia,T., Anderheiden,F., Datz,M.,
            Eberle,A.L., Eulenburg,V., Granzow,J., Hofer,M., Hohenschild,J.,
            Huber,S.E., Kampf,S., Kogias,G., Lacatusu,L., Lugmair,C.,
            Taku,S.M., Meixner,D., Tesch,N., Praetner,M., Rhein,C., Sauer,C.,
            Scholz,J., Ulrich,F., Valenta,F., Weigand,E., Werner,M., Tay,N., Mc
            Veigh,C.J., Haase,J., Wang,A.L., Abdel-Hafiz,L., Huston,J.P.,
            Smaga,I., Frankowska,M., Filip,M., Lourdusamy,A., Kirchner,P.,
            Ekici,A.B., Marx,L.M., Suresh,N.P., Frischknecht,R., Fejtova,A.,
            Saied,E.M., Arenz,C., Bozec,A., Wank,I., Kreitz,S., Hess,A.,
            Bauerle,T., Ledesma,M.D., Mitroi,D.N., Miranda,A.M., Oliveira,T.G.,
            Gulbins,E., Lenz,B., Schumann,G., Kornhuber,J. and Muller,C.P.
  TITLE     Neutral sphingomyelinase mediates the co-morbidity trias of alcohol
            abuse, major depression and bone defects
  JOURNAL   Mol Psychiatry 26 (12), 7403-7416 (2021)
   PUBMED   34584229
  REMARK    GeneRIF: Neutral sphingomyelinase mediates the co-morbidity trias
            of alcohol abuse, major depression and bone defects.
REFERENCE   6  (bases 1 to 5271)
  AUTHORS   Marchesini,N., Osta,W., Bielawski,J., Luberto,C., Obeid,L.M. and
            Hannun,Y.A.
  TITLE     Role for mammalian neutral sphingomyelinase 2 in confluence-induced
            growth arrest of MCF7 cells
  JOURNAL   J Biol Chem 279 (24), 25101-25111 (2004)
   PUBMED   15051724
REFERENCE   7  (bases 1 to 5271)
  AUTHORS   Miura,Y., Gotoh,E., Nara,F., Nishijima,M. and Hanada,K.
  TITLE     Hydrolysis of sphingosylphosphocholine by neutral sphingomyelinases
  JOURNAL   FEBS Lett 557 (1-3), 288-292 (2004)
   PUBMED   14741383
  REMARK    Erratum:[FEBS Lett. 2004 May 7;565(1-3):207]
REFERENCE   8  (bases 1 to 5271)
  AUTHORS   Marchesini,N., Luberto,C. and Hannun,Y.A.
  TITLE     Biochemical properties of mammalian neutral sphingomyelinase 2 and
            its role in sphingolipid metabolism
  JOURNAL   J Biol Chem 278 (16), 13775-13783 (2003)
   PUBMED   12566438
  REMARK    GeneRIF: nSMase2 is a structural gene for nSMase, acts as a bona
            fide N-SMase in cells, and has a role in the regulation of cell
            growth and cell signaling
REFERENCE   9  (bases 1 to 5271)
  AUTHORS   Chagnon,P., Michaud,J., Mitchell,G., Mercier,J., Marion,J.F.,
            Drouin,E., Rasquin-Weber,A., Hudson,T.J. and Richter,A.
  TITLE     A missense mutation (R565W) in cirhin (FLJ14728) in North American
            Indian childhood cirrhosis
  JOURNAL   Am J Hum Genet 71 (6), 1443-1449 (2002)
   PUBMED   12417987
REFERENCE   10 (bases 1 to 5271)
  AUTHORS   Hofmann,K., Tomiuk,S., Wolff,G. and Stoffel,W.
  TITLE     Cloning and characterization of the mammalian brain-specific,
            Mg2+-dependent neutral sphingomyelinase
  JOURNAL   Proc Natl Acad Sci U S A 97 (11), 5895-5900 (2000)
   PUBMED   10823942
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC099521.2, AK289651.1 and BC112238.1.
            
            On Nov 22, 2018 this sequence version replaced NM_018667.3.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: AK289651.1, BC041828.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153946 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000219334.10/ ENSP00000219334.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC099521.2         128667-128668       c
            3-1252              AK289651.1         2-1251
            1253-2464           BC112238.1         906-2117
            2465-5271           AC099521.2         38487-41293         c
FEATURES             Location/Qualifiers
     source          1..5271
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..5271
                     /gene="SMPD3"
                     /gene_synonym="NSMASE2"
                     /note="sphingomyelin phosphodiesterase 3"
                     /db_xref="GeneID:55512"
                     /db_xref="HGNC:HGNC:14240"
                     /db_xref="MIM:605777"
     exon            1..156
                     /gene="SMPD3"
                     /gene_synonym="NSMASE2"
                     /inference="alignment:Splign:2.1.0"
     exon            157..218
                     /gene="SMPD3"
                     /gene_synonym="NSMASE2"
                     /inference="alignment:Splign:2.1.0"
     exon            219..1747
                     /gene="SMPD3"
                     /gene_synonym="NSMASE2"
                     /inference="alignment:Splign:2.1.0"
     CDS             425..2392
                     /gene="SMPD3"
                     /gene_synonym="NSMASE2"
                     /EC_number="3.1.4.12"
                     /note="neutral sphingomyelinase 2; nSMase-2; neutral
                     sphingomyelinase II"
                     /codon_start=1
                     /product="sphingomyelin phosphodiesterase 3"
                     /protein_id="NP_061137.1"
                     /db_xref="CCDS:CCDS10867.1"
                     /db_xref="GeneID:55512"
                     /db_xref="HGNC:HGNC:14240"
                     /db_xref="MIM:605777"
                     /translation="MVLYTTPFPNSCLSALHCVSWALIFPCYWLVDRLAASFIPTTYE
                     KRQRADDPCCLQLLCTALFTPIYLALLVASLPFAFLGFLFWSPLQSARRPYIYSRLED
                     KGLAGGAALLSEWKGTGPGKSFCFATANVCLLPDSLARVNNLFNTQARAKEIGQRIRN
                     GAARPQIKIYIDSPTNTSISAASFSSLVSPQGGDGVARAVPGSIKRTASVEYKGDGGR
                     HPGDEAANGPASGDPVDSSSPEDACIVRIGGEEGGRPPEADDPVPGGQARNGAGGGPR
                     GQTPNHNQQDGDSGSLGSPSASRESLVKGRAGPDTSASGEPGANSKLLYKASVVKKAA
                     ARRRRHPDEAFDHEVSAFFPANLDFLCLQEVFDKRAATKLKEQLHGYFEYILYDVGVY
                     GCQGCCSFKCLNSGLLFASRYPIMDVAYHCYPNKCNDDALASKGALFLKVQVGSTPQD
                     QRIVGYIACTHLHAPQEDSAIRCGQLDLLQDWLADFRKSTSSSSAANPEELVAFDVVC
                     GDFNFDNCSSDDKLEQQHSLFTHYRDPCRLGPGEEKPWAIGTLLDTNGLYDEDVCTPD
                     NLQKVLESEEGRREYLAFPTSKSSGQKGRKELLKGNGRRIDYMLHAEEGLCPDWKAEV
                     EEFSFITQLSGLTDHLPVAMRLMVSSGEEEA"
     exon            1748..1823
                     /gene="SMPD3"
                     /gene_synonym="NSMASE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1824..1979
                     /gene="SMPD3"
                     /gene_synonym="NSMASE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1980..2069
                     /gene="SMPD3"
                     /gene_synonym="NSMASE2"
                     /inference="alignment:Splign:2.1.0"
     exon            2070..2133
                     /gene="SMPD3"
                     /gene_synonym="NSMASE2"
                     /inference="alignment:Splign:2.1.0"
     exon            2134..2290
                     /gene="SMPD3"
                     /gene_synonym="NSMASE2"
                     /inference="alignment:Splign:2.1.0"
     exon            2291..5271
                     /gene="SMPD3"
                     /gene_synonym="NSMASE2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5252..5257
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMPD3"
                     /gene_synonym="NSMASE2"
                     /note="hexamer: AATAAA"
     polyA_site      5271
                     /gene="SMPD3"
                     /gene_synonym="NSMASE2"
                     /note="major polyA site"
ORIGIN      
        1 gtgctgagtc tgagggaggc tccggacccg agagccgcga gagccgccgc cgctgcggcc
       61 gccgccagat ctgcggccgg gagcccgggc tgtgaggagc cgggaggagc ggggtgcgct
      121 gccgggcgct gaccgccctc ccgcccgccg tcagaggtct gcggtgacag ctcttcttca
      181 gagagaagga caacaaggtc ccagtggccc ctcctcaggg tctgcagtag gcctccgcat
      241 ggcccaccga ggtgaaccat gaccggctgg ccaacattcg ccattgacca gccggagttg
      301 catctcgcca ggaggtgacc cctcctccag ctgcccccaa ctcgcccacc ctcgcccagg
      361 aaagtgcccg cagctgccac ggacaccatg tagtagggcc ggctgcggcg cccagtgagc
      421 tgcgatggtt ttgtacacga ccccctttcc taacagctgt ctgtccgccc tgcactgtgt
      481 gtcctgggcc cttatctttc catgctactg gctggtggac cggctcgctg cctccttcat
      541 acccaccacc tacgagaagc gccagcgggc agacgacccg tgctgcctgc agctgctctg
      601 cactgccctc ttcacgccca tctacctggc cctcctggtg gcctcgctgc cctttgcgtt
      661 tctcggcttt ctcttctggt ccccactgca gtcggcccgc cggccctaca tctattcacg
      721 gctggaagac aagggcctgg ccggtggggc agccctgctc agtgaatgga agggcacggg
      781 gcctggcaaa agcttctgct ttgccactgc caacgtctgc ctcctgcccg actcactcgc
      841 cagggtcaac aaccttttta acacccaagc gcgggccaag gagatcgggc agagaatccg
      901 caatggggcc gcccggcccc agatcaaaat ttacatcgac tcccccacca atacctccat
      961 cagcgccgct agcttcagca gcctggtgtc accacagggc ggcgatgggg tggcccgggc
     1021 cgtccccggg agcattaaga ggacagcctc tgtggagtac aagggtgacg gtgggcggca
     1081 ccccggtgac gaggctgcca acggcccagc ctctggggac cctgtcgaca gcagcagccc
     1141 ggaggatgcc tgcatcgtgc gcatcggtgg cgaggagggc ggccggccac ctgaagctga
     1201 cgaccctgtg cctgggggcc aggccaggaa cggagctggc gggggcccaa ggggccagac
     1261 gcccaaccat aatcagcagg acggggattc agggagcctg ggcagcccct cggcctcccg
     1321 ggagtccctg gtgaaggggc gagctgggcc agacaccagt gccagcgggg agccaggtgc
     1381 caacagcaag ctcctgtaca aggcctcggt ggtgaagaag gcggctgcac gcaggaggcg
     1441 gcaccccgac gaggccttcg accatgaggt ctccgccttc ttccccgcca acctggactt
     1501 cctgtgcctg caggaggtgt ttgacaagcg agcagccacc aaattgaaag agcagctgca
     1561 cggctacttc gagtacatcc tgtacgacgt cggggtctac ggctgccagg gctgctgcag
     1621 cttcaagtgt ctcaacagcg gcctcctctt tgccagccgc taccccatca tggacgtggc
     1681 ctatcactgt taccccaaca agtgtaacga cgatgccctg gcctctaagg gagctctgtt
     1741 tctcaaggtg caggtgggaa gcacacctca ggaccaaaga atcgtcgggt acatcgcctg
     1801 cacacacctg catgccccgc aagaggacag cgccatccgg tgtgggcagc tggacctgct
     1861 tcaggactgg ctggctgatt tccgaaaatc tacctcctcg tccagcgcag ccaaccccga
     1921 ggagctggtg gcatttgacg tcgtctgtgg agatttcaac tttgataact gctcctctga
     1981 cgacaagctg gagcagcaac actccctgtt cacccactac agggacccct gccgcctggg
     2041 gcctggtgag gagaagccgt gggccatcgg tactctgctg gacacgaacg gcctgtacga
     2101 tgaggatgtg tgcacccccg acaacctgca gaaggtcctg gagagtgagg agggccgcag
     2161 ggagtacctg gcgtttccca ccagcaagag ctcgggccag aaggggcgga aggagctgct
     2221 gaagggcaac ggccggcgca tcgactacat gctgcatgca gaggaggggc tgtgcccaga
     2281 ctggaaggcc gaggtggaag aattcagttt tatcacccag ctgtccggcc tgacggacca
     2341 cctgccagta gccatgcgac tgatggtgtc ttcgggggag gaggaggcat agaccgtccg
     2401 gagcagcggg gcctctgcca gcccttgcag ctgcagccca tccctgggcc atgtcccctc
     2461 catcgagtgc ccggtgcttg ggggaggagg gcagggacag ggagggagcc acagtcagtg
     2521 cccgggaacc tggaagctgc gctgctctgc gcctctgggc ctcactgtgg acagaggagt
     2581 caggcccgcc ccaggagcct ccagctgcct aaccagtgcc attctttcac aacacgattt
     2641 tctacaaatc tacagcacaa ccgagtttgt aacccgtggg ttagtatgag gaccgggttc
     2701 gtgtactctc tgtatctcct cttaagcttc gtccagggtt ctttattttt gtctgctgcc
     2761 aatgtcgtct cgcatgcctg caccctcgca tgcacgctgc ccgcatgcca cgtgccacgc
     2821 tgtagccaca gaccccttgc tcgggcctca cccaaggcca aactccaaac acaatcagaa
     2881 ccagccaaag aagcacttcc tgggcacggc caccagctct cccgcctcca gtgtgggccg
     2941 gctcctgcag ggtccgaggg ctgcatctct accagccagc ccagggctct tcccagggtc
     3001 tcgcattcaa gggcaattac attttaaaaa gaaaaacaga aaaaggttaa tcacaaaacc
     3061 aaccctcact tcacagggtc tgtaagtcac tcatagaact ttgctcttcc cgagacaggg
     3121 tcccttcccc agctcaggca caacagagtc tggcaggctc tggcaccctg ggcctcctcc
     3181 gggagcctcc catctgggca gtggagccat aaacggggat ccgagaagag agtatccact
     3241 ttttttttta caggaagaag ggactcacag cataaacggg ggtggggggg atcctgattt
     3301 tgaaaataat ctatttgtag cttctcttct atcaaaacca acacatcctc ttctttctgc
     3361 caatcctctc ccccacggga cacctctctg gttcgggacc aatccctccc tggggacgtg
     3421 ccccacctgc gtgccggctg agctcaggaa cccctgcctg ccccccgggt ggggctgcgg
     3481 ctctggcctc ccaggcccat cctcaacagc taccccagcc aacaccaagg ccacaagggg
     3541 accccggcct aggaggcagg aagccaaggt gcagagagca gcctggccct caccagtgcg
     3601 caagctgggg cagcaaggct gacagttgct gcatgcccag ggcagggtgt ggtactggca
     3661 cccaagttca gcatggcaga gctggccaac agcttgtggt ccccgatctg cctccagccc
     3721 caagatgcct acagccccca ggccccttcg gcagcactgc ctctgcccac ctgcctttaa
     3781 gagactccag ggctgctcct gtcatgcagc gaaggttttg tctgtttcaa agttcgagac
     3841 tcaacttgag ggactgtttt tgacaatccc cgctgacctc cgctcctcgt ggcgccctgg
     3901 ccctacaccc agcctggccc agggccggct ttgcctggtg aggctggagg gagcaccagg
     3961 acctgctgtc tgctgtcagc ccctcctggt gctggtgccc tgatgctgtg ccttgtcacc
     4021 cattgagctg caagagggac caagaggggg ccacgcagcc agccagatgc ctggccctgt
     4081 gctggggcag acaacgctgc agagcccagg gagcctggcg ctaggacgtg cgtccttgtg
     4141 acactggcct gtctgaactc acctggcctg ggaagcaccg tctgcccggg cccaagccct
     4201 gcccctccag agtccagagc caggaagggg ctgctgaggg cgagcatcct gctgggctct
     4261 ctgcccggcc cacccctcca aggggctggc ctgtgagcct tgactgggat tcatgatgtg
     4321 gaggccccca acttccagaa gcagctggta ctctgctcac acaagcgact gggccggccg
     4381 gccctggacc cctagacccc gagccgcctg ccgactgcct gcacagggag agcagttgag
     4441 gcccgggcag ggcccccaca ccagacccca acatagcttc cccacccagg caccccctcc
     4501 cggggcagca ggcgtgggag tcagggctgc atgctcctcc cctcccacct cacaggcggc
     4561 cttaggcaag tcattttctg tcatcacaag gtcgcctctg cctagtcagg tcctggggtc
     4621 cagagtaagg atgtgcggcc cccaggcccc cgcacacctc cctcagcacc aagaccggga
     4681 cccccccacc cacgtgtctc attgtggctg cctatggact cccgggcctt gtgtgcaggc
     4741 caggcccttc cactgatttt ttaaagtgaa ccattgctgg atctcagatt ctgtggcatc
     4801 taaggcctag caggggtggg cacacgggtc acccgaggcc cataccaaga ctctgttcct
     4861 gccctaggcc cagtctcaaa ggaagccaca aggcgcgggg gccactgagg aaggaaatgt
     4921 tcattttcat ttgtccaaaa ccaccttaag ttttaagtat attaatcttg atgcttttta
     4981 actattgctt tttaacttgc tgagatttag aaatactgtt ataaaaactt ttttaatttc
     5041 tgtatttttt tctgtattgt atcttcatgg gacattaggg gttttctatg gtaagcacac
     5101 ctatggtttt ggtaaaaaca ttatcaaata tatatccaga cggttcttcc ctagaagaaa
     5161 aacaagtctt tacacctgat aaaatatttt gcgaagagag gtgttctttt tccttactgg
     5221 tgctgaaagg aaggatggat aacgaggaga aaataaaact gtgaggctca a
//
