LOCUS       NM_144792               3682 bp    mRNA    linear   ROD 11-FEB-2025
DEFINITION  Mus musculus sphingomyelin synthase 1 (Sgms1), transcript variant
            2, mRNA.
ACCESSION   NM_144792
VERSION     NM_144792.5
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 3682)
  AUTHORS   Chen,J., Lewis,M.A., Wai,A., Yin,L., Dawson,S.J., Ingham,N.J. and
            Steel,K.P.
  TITLE     A new mutation of Sgms1 causes gradual hearing loss associated with
            a reduced endocochlear potential
  JOURNAL   Hear Res 451, 109091 (2024)
   PUBMED   39067415
  REMARK    GeneRIF: A new mutation of Sgms1 causes gradual hearing loss
            associated with a reduced endocochlear potential.
REFERENCE   2  (bases 1 to 3682)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (bases 1 to 3682)
  AUTHORS   Chiang,Y.P., Li,Z., He,M., Jones,Q., Pan,M., Han,X. and Jiang,X.C.
  TITLE     Sphingomyelin synthase-related protein SMSr is a
            phosphatidylethanolamine phospholipase C that promotes nonalcoholic
            fatty liver disease
  JOURNAL   J Biol Chem 299 (9), 105162 (2023)
   PUBMED   37586586
  REMARK    Erratum:[J Biol Chem. 2024 Apr;300(4):107204. doi:
            10.1016/j.jbc.2024.107204.. PMID: 38552502]
REFERENCE   4  (bases 1 to 3682)
  AUTHORS   Komuro,M., Nagane,M., Fukuyama,T., Luo,X., Hiraki,S., Miyanabe,M.,
            Ishikawa,M., Niwa,C., Murakami,H., Okamoto,M. and Yamashita,T.
  TITLE     Sphingomyelin maintains the cutaneous barrier via regulation of the
            STAT3 pathway
  JOURNAL   FASEB J 36 (4), e22111 (2022)
   PUBMED   35230716
REFERENCE   5  (bases 1 to 3682)
  AUTHORS   Chiang,Y.P., Li,Z., Chen,Y., Cao,Y. and Jiang,X.C.
  TITLE     Sphingomyelin synthases 1 and 2 exhibit phosphatidylcholine
            phospholipase C activity
  JOURNAL   J Biol Chem 297 (6), 101398 (2021)
   PUBMED   34774525
  REMARK    GeneRIF: Sphingomyelin synthases 1 and 2 exhibit
            phosphatidylcholine phospholipase C activity.
REFERENCE   6  (bases 1 to 3682)
  AUTHORS   Taniwaki,T., Haruna,K., Nakamura,H., Sekimoto,T., Oike,Y.,
            Imaizumi,T., Saito,F., Muta,M., Soejima,Y., Utoh,A., Nakagata,N.,
            Araki,M., Yamamura,K. and Araki,K.
  TITLE     Characterization of an exchangeable gene trap using pU-17 carrying
            a stop codon-beta geo cassette
  JOURNAL   Dev Growth Differ 47 (3), 163-172 (2005)
   PUBMED   15840001
REFERENCE   7  (bases 1 to 3682)
  AUTHORS   Nishimura,M., Yokoi,N., Miki,T., Horikawa,Y., Yoshioka,H.,
            Takeda,J., Ohara,O. and Seino,S.
  TITLE     Construction of a multi-functional cDNA library specific for mouse
            pancreatic islets and its application to microarray
  JOURNAL   DNA Res 11 (5), 315-323 (2004)
   PUBMED   15747579
REFERENCE   8  (bases 1 to 3682)
  AUTHORS   Yamaoka,S., Miyaji,M., Kitano,T., Umehara,H. and Okazaki,T.
  TITLE     Expression cloning of a human cDNA restoring sphingomyelin
            synthesis and cell growth in sphingomyelin synthase-defective
            lymphoid cells
  JOURNAL   J Biol Chem 279 (18), 18688-18693 (2004)
   PUBMED   14976195
REFERENCE   9  (bases 1 to 3682)
  AUTHORS   Huitema,K., van den Dikkenberg,J., Brouwers,J.F. and Holthuis,J.C.
  TITLE     Identification of a family of animal sphingomyelin synthases
  JOURNAL   EMBO J 23 (1), 33-44 (2004)
   PUBMED   14685263
REFERENCE   10 (bases 1 to 3682)
  AUTHORS   Araki,K., Imaizumi,T., Sekimoto,T., Yoshinobu,K., Yoshimuta,J.,
            Akizuki,M., Miura,K., Araki,M. and Yamamura,K.
  TITLE     Exchangeable gene trap using the Cre/mutated lox system
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 45 (5), 737-750 (1999)
   PUBMED   10512203
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC115752.8, AK146782.1, AK153406.1 and BP768024.1.
            
            On Apr 17, 2018 this sequence version replaced NM_144792.4.
            
            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 :: AK146782.1, AY509044.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            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
            1-63                AC115752.8         137340-137402
            64-2002             AK146782.1         6-1944
            2003-2249           AK153406.1         1930-2176
            2250-3663           AK146782.1         2192-3605
            3664-3682           BP768024.1         30-48               c
FEATURES             Location/Qualifiers
     source          1..3682
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 26.68 cM"
     gene            1..3682
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /note="sphingomyelin synthase 1"
                     /db_xref="GeneID:208449"
                     /db_xref="MGI:MGI:2444110"
     exon            1..293
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /inference="alignment:Splign:2.1.0"
     exon            294..372
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /inference="alignment:Splign:2.1.0"
     exon            373..463
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /inference="alignment:Splign:2.1.0"
     exon            464..506
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /inference="alignment:Splign:2.1.0"
     exon            507..588
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /inference="alignment:Splign:2.1.0"
     exon            589..1428
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /inference="alignment:Splign:2.1.0"
     CDS             788..2047
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /EC_number="2.7.8.27"
                     /note="transmembrane protein 23; protein Mob"
                     /codon_start=1
                     /product="phosphatidylcholine:ceramide
                     cholinephosphotransferase 1"
                     /protein_id="NP_659041.3"
                     /db_xref="CCDS:CCDS29750.1"
                     /db_xref="GeneID:208449"
                     /db_xref="MGI:MGI:2444110"
                     /translation="MLSARTMKEVVYWSPKKVADWLLENAMPEYCEPLEHFTGQDLIN
                     LTQEDFKKPPLYRVSSDNGQRLLDMIETLKMEHHMEAHKNGHANGHLSIGVDIPNPDG
                     SFSIKTKPNGMPNGFRKEMIKIPMPEPERSQYPMEWGKTFLAFLYALSCFVLTTVMIS
                     VVHERVPPKEVQPPLPDTFFDHFNRVQWAFSICEINGMILVGLWLFQWLLLKYKSIIS
                     RRFFCIVGTLYLYRCITMYVTTLPVPGMHFNCSPKLFGDWEAQVRRIMKLIAGGGLSI
                     TGSHNMCGDYLYSGHTVMLTLTYLFIKEYSPRRLWWYHWICWLLSVVGIFCILLAHDH
                     YTVDVVVAYYITTRLFWWYHTMANQQVLKEASQMNLLARVWWYRPFQYFEKNVQGIVP
                     RSYHWPFPWPVVHLSRQVKYSRLVNDT"
     exon            1429..1546
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /inference="alignment:Splign:2.1.0"
     exon            1547..1700
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /inference="alignment:Splign:2.1.0"
     exon            1701..1867
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /inference="alignment:Splign:2.1.0"
     exon            1868..3665
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3617..3622
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /note="hexamer: CATAAA"
     regulatory      3643..3648
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /note="hexamer: AATAAA"
     polyA_site      3658
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
     polyA_site      3662
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /note="major polyA site"
ORIGIN      
        1 gcgggaagcc gacccggctc cgccgcggac tgggcatgct cggcagcccg aggttccaag
       61 tcagaagcct tctcgccagc tcggcggcgg ccggagcagc ggcggcgggc tgccggctgg
      121 acgggagcag ggagagccgg ttcgggcggg ctgctcgtcc cgggagcctg gcacgcggac
      181 gggagagcgg gatcgggtgc agagtccgca cgccgccctg ccccggtttc gttccgcggc
      241 gcggggctcg gcgcgtggaa agaattccgg cggctgccac gactcgcgtg caaggtgaag
      301 gcagagagag cggtacccca ggacagacct cgccatttga ttctgtttag aagatagcca
      361 ccgactccga agggaaagct tcagtggctg atggagctgt gaccttttga gcagggtaca
      421 tttggagcac agagccgggc atataatata caagacagca cagaccggaa gaaagactga
      481 tgaagaaaag taacagcatg attgaggtaa tggagaccta ctggaacacg cggagaagct
      541 agtatcttgc aggaagccaa gatgaggaga gtctttttaa aataatccaa ggaagaattc
      601 tgttcagaaa tgaggcgaac gaatgtttgg acaccgttgc atgaagtgtt ttaaaactgc
      661 cctgaccatc ttgccaaatg agtctctgct catgaggccc aacaagatga accagccaag
      721 gagggatagt gtcctgccct gtacgaacag tgactgctga cgtctgagag caagctgggg
      781 gtactgaatg ttgtctgcca ggaccatgaa ggaagtggtt tactggtcac ccaagaaggt
      841 ggcagactgg ctgctggaga atgctatgcc agaatactgt gagcctctgg agcacttcac
      901 aggccaggac ttaatcaacc taacccaaga ggatttcaaa aaacccccac tgtaccgagt
      961 ctcctctgac aatgggcagc gactcttaga catgatagag accctgaaga tggagcacca
     1021 tatggaagca cacaagaatg gccacgccaa cggacacctc agcattggcg ttgacattcc
     1081 caaccccgat ggcagcttca gcatcaagac taaacccaac ggaatgccaa atgggtttag
     1141 gaaagagatg atcaagatcc ccatgccaga accggagcgc tcccagtatc ccatggagtg
     1201 gggcaagact ttcctggcct ttctttatgc actttcctgt tttgttctca ctacagtgat
     1261 gatctcggtc gtccatgaac gagtacctcc taaggaggtg cagcctccac taccggacac
     1321 gttttttgac cattttaacc gggtgcagtg ggcgttttct atttgcgaaa ttaacggcat
     1381 gatccttgta ggactctggc tatttcagtg gctgctctta aaatacaagt ctattattag
     1441 cagaagattt ttctgcatag ttggcacgct gtacctgtat cggtgtatta caatgtatgt
     1501 aactacactc ccagtacctg gcatgcattt caactgttct ccgaagctct ttggagactg
     1561 ggaagctcaa gtgcggagaa taatgaagct cattgctgga ggtggcttat ccatcacagg
     1621 ctcgcacaac atgtgtggcg actatctgta cagtggccac acggtcatgc taacgctcac
     1681 ctacctattt atcaaagagt attctcctcg gcggctctgg tggtaccact ggatttgctg
     1741 gctcctcagc gtcgttggaa tcttctgtat tctcttagcg catgaccact acactgtgga
     1801 cgtggtggtg gcctactaca tcaccacaag actcttctgg tggtatcaca cgatggccaa
     1861 tcagcaagtg cttaaggaag cctcccagat gaacctcctg gccagggtgt ggtggtacag
     1921 gccatttcag tactttgaaa agaatgtcca aggaattgta cctcgatctt accattggcc
     1981 cttcccctgg ccggtagtcc accttagtag gcaagttaaa tatagccggc tggtaaacga
     2041 cacataacag ctctgccgac tagggaatga agaacagtcc gaagtgctaa gaactccatg
     2101 acagaagatg ccataaagta accacctccc cctgctatct ctcaagttac cttgacttaa
     2161 cctattgcgt tacctgctca gcactgtgat cttttttttt ctctccaaag gacccgcgtt
     2221 ggacaacaat aaagaaaagt tcccacatca tgcactgtag acatttcctg ttgttaagct
     2281 tggggcttct ataacaggca gccaccgtgt ccctctgtgt cattcagccg caccaccgtg
     2341 tgcttctgta tcctaagctc cggcctttcc agccatatct ggaaataaag tgtgttattt
     2401 tcttgggaaa acatactttt catatctctt gccccaaaga cagggctgta agccattttc
     2461 tagtaaatgt ctctatgaag ggtcctaagt gtctgcatgg gagttgattt agaatctctc
     2521 tgcctattgc actgatgctc ggctgaagac gataggtcca gagaggtttg ctcgcctggg
     2581 gttttataca gtcagcagag acggtgtatc aaaaagtgca aaaaaaaaaa tctgttataa
     2641 agtgattttt ctaagtattt cctaacttta tttttcaaaa tgatgttatg aaaaccaaat
     2701 ttaaagattt ttacatgtca cagaaaagag agttaacatt taaaagtgct tcttgggaga
     2761 gaaatttgtc tatgtttcta gtgcctttct tgtcttgatt gtatggtcgg ttggtaggca
     2821 atcttaaatg tttttattta ttccatgaaa atataaatgt atgtatacac tactaaattt
     2881 tacatttata gctaaattaa atcagaagac tgctagtggt tttaaaattg ttttgaactg
     2941 aagaatagag ggtgtgaatt agagtacgca cccattcaca tattgtgagc aggccgcact
     3001 gccaggtgcc gctgagatta tgccatctgt ttggtagttt ggttttaact actcaataaa
     3061 aacagccatg aatatctttt tttaaagaga gtttcgaaaa tgatcactta cctaaaactt
     3121 gaaagctata aactagttat ccatactctc atgacagttt tgttggtgaa caacaacaaa
     3181 aagatctatt tctttaaaat atatttgtgc agaaactgca tgtaattctg agttttcctc
     3241 ctgacataca tatgtttggg gaagtattct actctatact tgccaacgtg gagaacaaaa
     3301 tagttttcta agagcgaaga agtatatata tataaatata aatataatat ccattctgta
     3361 ttttatgtgc agcaggatta ccttctgtag gtttttttgt gtgtgtgcac atgcacaagt
     3421 gtgtgtgcgt gttcatgtat gagtgagtgt gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt
     3481 actcacaagg tgatatttgt attgtaaaac aataatggtg aaggaaataa aaaggctttt
     3541 aaatttttgt ttgttttaaa tctttgtaaa gttattattc cagagagtat actgatatct
     3601 tacaacttac ctaaatcata aattaatcaa aatgcacttt ttaataaaaa cttatactga
     3661 aagtaaaaaa aaaaaaaaaa aa
//
