LOCUS       NM_011421               2430 bp    mRNA    linear   ROD 10-FEB-2025
DEFINITION  Mus musculus sphingomyelin phosphodiesterase 1, acid lysosomal
            (Smpd1), mRNA.
ACCESSION   NM_011421
VERSION     NM_011421.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2430)
  AUTHORS   Chen,Y., Liu,H., Luo,Z., Zhang,J., Dong,M., Yin,G. and Xie,Q.
  TITLE     ASM is a therapeutic target in dermatomyositis by regulating the
            differentiation of naive CD4 + T cells into Th17 and Treg subsets
  JOURNAL   Skelet Muscle 14 (1), 16 (2024)
   PUBMED   39026344
  REMARK    GeneRIF: ASM is a therapeutic target in dermatomyositis by
            regulating the differentiation of naive CD4 + T cells into Th17 and
            Treg subsets.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2430)
  AUTHORS   Huang,D., Kidd,J.M., Zou,Y., Wu,X., Li,N., Gehr,T.W.B., Li,P.L. and
            Li,G.
  TITLE     Podocyte-specific silencing of acid sphingomyelinase gene to
            abrogate hyperhomocysteinemia-induced NLRP3 inflammasome activation
            and glomerular inflammation
  JOURNAL   Am J Physiol Renal Physiol 326 (6), F988-F1003 (2024)
   PUBMED   38634138
  REMARK    GeneRIF: Podocyte-specific silencing of acid sphingomyelinase gene
            to abrogate hyperhomocysteinemia-induced NLRP3 inflammasome
            activation and glomerular inflammation.
REFERENCE   3  (bases 1 to 2430)
  AUTHORS   Taha,A.Y., Gaudioso,A., Moran-Garrido,M., Camunas-Alberca,S.M.,
            Bachiller-Hernandez,J., Saiz,J., Ledesma,M.D. and Barbas,C.
  TITLE     Neurons regulate the esterification of bioactive lipid mediators in
            the brain of acid sphingomyelinase deficient mice
  JOURNAL   Prog Neuropsychopharmacol Biol Psychiatry 129, 110896 (2024)
   PUBMED   37956788
  REMARK    GeneRIF: Neurons regulate the esterification of bioactive lipid
            mediators in the brain of acid sphingomyelinase deficient mice.
REFERENCE   4  (bases 1 to 2430)
  AUTHORS   Das,K., Keshava,S., Mukherjee,T., Wang,J., Magisetty,J.,
            Kolesnick,R., Pendurthi,U.R. and Rao,L.V.M.
  TITLE     Factor VIIa releases phosphatidylserine-enriched extracellular
            vesicles from endothelial cells by activating acid sphingomyelinase
  JOURNAL   J Thromb Haemost 21 (12), 3414-3431 (2023)
   PUBMED   37875382
  REMARK    GeneRIF: Factor VIIa releases phosphatidylserine-enriched
            extracellular vesicles from endothelial cells by activating acid
            sphingomyelinase.
REFERENCE   5  (bases 1 to 2430)
  AUTHORS   Huang,D., Kidd,J.M., Zou,Y., Wu,X., Gehr,T.W.B., Li,P.L. and Li,G.
  TITLE     Regulation of NLRP3 Inflammasome Activation and Inflammatory
            Exosome Release in Podocytes by Acid Sphingomyelinase During
            Obesity
  JOURNAL   Inflammation 46 (5), 2037-2054 (2023)
   PUBMED   37477734
  REMARK    GeneRIF: Regulation of NLRP3 Inflammasome Activation and
            Inflammatory Exosome Release in Podocytes by Acid Sphingomyelinase
            During Obesity.
REFERENCE   6  (bases 1 to 2430)
  AUTHORS   Horinouchi,K., Erlich,S., Perl,D.P., Ferlinz,K., Bisgaier,C.L.,
            Sandhoff,K., Desnick,R.J., Stewart,C.L. and Schuchman,E.H.
  TITLE     Acid sphingomyelinase deficient mice: a model of types A and B
            Niemann-Pick disease
  JOURNAL   Nat Genet 10 (3), 288-293 (1995)
   PUBMED   7670466
REFERENCE   7  (bases 1 to 2430)
  AUTHORS   Otterbach,B. and Stoffel,W.
  TITLE     Acid sphingomyelinase-deficient mice mimic the neurovisceral form
            of human lysosomal storage disease (Niemann-Pick disease)
  JOURNAL   Cell 81 (7), 1053-1061 (1995)
   PUBMED   7600574
REFERENCE   8  (bases 1 to 2430)
  AUTHORS   Kolesnick,R. and Golde,D.W.
  TITLE     The sphingomyelin pathway in tumor necrosis factor and
            interleukin-1 signaling
  JOURNAL   Cell 77 (3), 325-328 (1994)
   PUBMED   8181053
  REMARK    Review article
REFERENCE   9  (bases 1 to 2430)
  AUTHORS   Newrzella,D. and Stoffel,W.
  TITLE     Molecular cloning of the acid sphingomyelinase of the mouse and the
            organization and complete nucleotide sequence of the gene
  JOURNAL   Biol Chem Hoppe Seyler 373 (12), 1233-1238 (1992)
   PUBMED   1292508
REFERENCE   10 (bases 1 to 2430)
  AUTHORS   Pentchev,P.G., Gal,A.E., Booth,A.D., Omodeo-Sale,F., Fouks,J.,
            Neumeyer,B.A., Quirk,J.M., Dawson,G. and Brady,R.O.
  TITLE     A lysosomal storage disorder in mice characterized by a dual
            deficiency of sphingomyelinase and glucocerebrosidase
  JOURNAL   Biochim Biophys Acta 619 (3), 669-679 (1980)
   PUBMED   6257302
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK145702.1 and BP760033.1.
            
            On Jul 28, 2009 this sequence version replaced NM_011421.1.
            
            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 :: AK145702.1, AK145534.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2410              AK145702.1         2-2411
            2411-2430           BP760033.1         19-38               c
FEATURES             Location/Qualifiers
     source          1..2430
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 55.9 cM"
     gene            1..2430
                     /gene="Smpd1"
                     /gene_synonym="A-SMase; ASM; aSMase; Zn-SMase"
                     /note="sphingomyelin phosphodiesterase 1, acid lysosomal"
                     /db_xref="GeneID:20597"
                     /db_xref="MGI:MGI:98325"
     exon            1..478
                     /gene="Smpd1"
                     /gene_synonym="A-SMase; ASM; aSMase; Zn-SMase"
                     /inference="alignment:Splign:2.1.0"
     CDS             173..2056
                     /gene="Smpd1"
                     /gene_synonym="A-SMase; ASM; aSMase; Zn-SMase"
                     /EC_number="3.1.4.12"
                     /EC_number="3.1.4.3"
                     /note="acid sphingomyelinase"
                     /codon_start=1
                     /product="sphingomyelin phosphodiesterase precursor"
                     /protein_id="NP_035551.1"
                     /db_xref="CCDS:CCDS21653.1"
                     /db_xref="GeneID:20597"
                     /db_xref="MGI:MGI:98325"
                     /translation="MPHHRASSGQDHLRAGWEQRLERSLPAPRVGLLWMGLGLALVLA
                     LFDSTVLWVPARAYPLPSEGHSVKFSAIAPPLQSAFGWQNLTCPACKVLFTALNHGLK
                     KEPNVARVGSVAIKICKMLNIAPLDVCQSAVHLFEDDVVEVWTRSVLSPSEACGLLLG
                     SSCGHWDIFSTWNISLPSVPKPPPKPPSPPAPGAPVSRVLFLTDLHWDHEYLEGTDPY
                     CADPLCCRRGSGWPPNSQKGAGFWGEYSKCDLPLRTLESLLKGLGPAGPFEMVYWTGD
                     IPAHDVWQQSRQDQLRALTTITDLVRKFLGPVPVYPAVGNHESTPVNGFPPPFIKGNQ
                     SSQWLYEAMAKAWEPWLPADALHTLRIGGFYALTPRPGLRLISLNMNFCSRENFWLLI
                     NSTDPAGQLQWLVEELQAAENRGDKVHIIGHIPPGHCLKSWSWNYYKIIARYENTLAG
                     QFFGHTHVDEFEIFYDEETLSRPLAVAFLAPSATTFINLNPGYRVYQIDGNYPGSSHV
                     VLDHETYILNLTQANAAGGTPSWKRLYRARETYGLPDAMPASWHNLVYRMRDDEQLFQ
                     TFWFLYHKGHPPSEPCGTPCRLATLCAQLSARADSPALCRHLMPNGSLPDANRLWSRP
                     LLC"
     exon            479..1251
                     /gene="Smpd1"
                     /gene_synonym="A-SMase; ASM; aSMase; Zn-SMase"
                     /inference="alignment:Splign:2.1.0"
     exon            1252..1423
                     /gene="Smpd1"
                     /gene_synonym="A-SMase; ASM; aSMase; Zn-SMase"
                     /inference="alignment:Splign:2.1.0"
     exon            1424..1500
                     /gene="Smpd1"
                     /gene_synonym="A-SMase; ASM; aSMase; Zn-SMase"
                     /inference="alignment:Splign:2.1.0"
     exon            1501..1646
                     /gene="Smpd1"
                     /gene_synonym="A-SMase; ASM; aSMase; Zn-SMase"
                     /inference="alignment:Splign:2.1.0"
     exon            1647..2412
                     /gene="Smpd1"
                     /gene_synonym="A-SMase; ASM; aSMase; Zn-SMase"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2387..2392
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Smpd1"
                     /gene_synonym="A-SMase; ASM; aSMase; Zn-SMase"
                     /note="hexamer: AATAAA"
     polyA_site      2412
                     /gene="Smpd1"
                     /gene_synonym="A-SMase; ASM; aSMase; Zn-SMase"
                     /note="major polyA site"
ORIGIN      
        1 ataagaggaa caggaagggg aggagctgtt ttgtggctgg ctgctgagct atcagtcaac
       61 cacaacgaag ggtaatcagg tgtctccagc gttacccggg ccccgagggc cagccagggc
      121 ttcggcctgt ggggcctgga ggggcaagcc agtcctgtct acgagcctgg caatgcccca
      181 ccacagagca tcatccggcc aggaccacct cagagccggc tgggagcaga gactggagag
      241 gtccttaccg gcacccagag tgggactcct ttggatgggg ctgggcttgg cgctggttct
      301 ggctctgttt gactccacgg ttctttgggt tcctgccaga gcttatcctc ttccttctga
      361 aggccattct gtcaaattca gtgccatagc gccgccgctc cagagtgcct ttgggtggca
      421 gaacctcact tgccccgcct gcaaagtctt attcactgct ctcaaccatg ggctgaagaa
      481 ggagcccaat gtggcacggg taggctctgt ggccatcaag atatgcaaga tgctgaacat
      541 agcaccacta gatgtgtgcc agtcagccgt ccatctcttt gaggacgatg tggtggaggt
      601 gtggacacgt tcagttctga gcccatcaga ggcttgtggc ttgcttctgg gctcctcttg
      661 tggacactgg gacatctttt cgacttggaa catctctttg ccatcagtgc cgaagccacc
      721 cccaaagcca ccgagcccac cagcccccgg tgcccctgtc agccgtgtcc tcttccttac
      781 tgatctacac tgggaccatg agtacctgga gggcacagac ccttactgtg cagatccact
      841 ttgctgccgc cgggggtccg gatggccacc caactcccag aagggggctg ggttctgggg
      901 cgagtacagc aagtgtgacc tgcccttgcg aacgctagaa agcctgttga aaggactggg
      961 ccctgccggc ccttttgaaa tggtgtactg gacgggagat atccctgccc atgatgtctg
     1021 gcaacagtct cgccaagatc agctgagggc cctgaccacc atcacagacc tcgtgaggaa
     1081 gttcttgggc ccagtgccag tgtaccctgc tgtgggcaac catgagagca ctcctgtcaa
     1141 tggcttccct cctcccttca taaagggaaa ccaatcttca caatggctct atgaagccat
     1201 ggccaaggca tgggaaccct ggttaccagc tgatgccctt cacaccctaa gaattggggg
     1261 cttctatgcc ctcaccccac gccctggcct ccgcctcatc tctctcaata tgaatttttg
     1321 ttcccgtgag aacttttggc tcttgatcaa ctccacagat cctgctggac aactccagtg
     1381 gctggtggag gagcttcagg ctgctgagaa tcgaggagac aaagtgcata taattggcca
     1441 catccctcca ggacattgtc ttaagagctg gagctggaat tattacaaaa tcatagccag
     1501 gtatgaaaac actctggccg gtcagttctt tggccacact cacgtggatg agtttgagat
     1561 cttctatgat gaggaaactc tgagccgacc actagctgta gccttcctgg cgcccagtgc
     1621 tacaaccttt atcaacctta accctggcta ccgagtttac caaatagatg gaaactaccc
     1681 cggaagctct catgtggtcc tggaccacga gacctacatc ttgaatctga cccaggccaa
     1741 cgcagcagga ggcacaccaa gctggaagcg cctctacagg gctcgagaaa cctatggact
     1801 tccagatgcg atgcctgcct cctggcacaa cctggtctac cgcatgaggg atgatgagca
     1861 actcttccag accttctggt ttctctacca taagggccac ccaccttcag agccctgcgg
     1921 cacaccctgc cgcctggcca ctctgtgtgc ccagctctca gcccgagcag acagccctgc
     1981 tttgtgtcgc cacttgatgc ccaatgggag cctcccagat gctaataggt tgtggtcacg
     2041 ccccctgttg tgctagtatt ccatgttcca gactggggaa agttcatgta tcagaaaagg
     2101 gatacattcc cgagtgctgc ttatctacct gaggcaaaag cttcggggga aggagccagc
     2161 caggccaggg aaacaagccg cctcatgaga gcttgtttgg ttacactgga ggaggttttg
     2221 gctgtcctac ttatgcccag gatctggatt acccctgggg ctgatgtctg acctgggctt
     2281 tgtcgagggc tcagtgctct ggatagtcag acaggagcta ttgcccgagc ctgggctaat
     2341 ggacctctga accctgtact gttacctgat cctgcaaggc tgttaaaata aagagacaca
     2401 cttcagactc caaaaaaaaa aaaaaaaaaa
//
