LOCUS       NP_659041                419 aa            linear   ROD 25-APR-2025
DEFINITION  phosphatidylcholine:ceramide cholinephosphotransferase 1 [Mus
            musculus].
ACCESSION   NP_659041
VERSION     NP_659041.3
DBSOURCE    REFSEQ: accession 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  (residues 1 to 419)
  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  (residues 1 to 419)
  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  (residues 1 to 419)
  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  (residues 1 to 419)
  AUTHORS   Li,Z., He,M., Chen,G., Souaiaia,T., Worgall,T.S. and Jiang,X.C.
  TITLE     Effect of Total SMS Activity on LDL Catabolism in Mice
  JOURNAL   Arterioscler Thromb Vasc Biol 43 (7), 1251-1261 (2023)
   PUBMED   37128925
REFERENCE   5  (residues 1 to 419)
  AUTHORS   Wang,S., Chen,S., Sun,J., Han,P., Xu,B., Li,X., Zhong,Y., Xu,Z.,
            Zhang,P., Mi,P., Zhang,C., Li,L., Zhang,H., Xia,Y., Li,S.,
            Heikenwalder,M. and Yuan,D.
  TITLE     m6A modification-tuned sphingolipid metabolism regulates postnatal
            liver development in male mice
  JOURNAL   Nat Metab 5 (5), 842-860 (2023)
   PUBMED   37188818
REFERENCE   6  (residues 1 to 419)
  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  (residues 1 to 419)
  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  (residues 1 to 419)
  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  (residues 1 to 419)
  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 (residues 1 to 419)
  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 Nov 15, 2004 this sequence version replaced NP_659041.2.
            
            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##
FEATURES             Location/Qualifiers
     source          1..419
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 26.68 cM"
     Protein         1..419
                     /product="phosphatidylcholine:ceramide
                     cholinephosphotransferase 1"
                     /EC_number="2.7.8.27"
                     /note="transmembrane protein 23; protein Mob"
                     /calculated_mol_wt=49186
     Region          7..78
                     /region_name="SAM_SGMS1"
                     /note="SAM domain of sphingomyelin synthase; cd09514"
                     /db_xref="CDD:188913"
     Site            14
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q86VZ5; propagated from
                     UniProtKB/Swiss-Prot (Q8VCQ6.2)"
     Site            142..162
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8VCQ6.2)"
     Site            190..210
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8VCQ6.2)"
     Site            221..241
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8VCQ6.2)"
     Region          282..355
                     /region_name="PAP2_C"
                     /note="PAP2 superfamily C-terminal; pfam14360"
                     /db_xref="CDD:464150"
     Site            282..302
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8VCQ6.2)"
     Site            310..330
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8VCQ6.2)"
     CDS             1..419
                     /gene="Sgms1"
                     /gene_synonym="9530058O11Rik; Mob; Sms1; Sor1; Tmem23"
                     /coded_by="NM_144792.5:788..2047"
                     /db_xref="CCDS:CCDS29750.1"
                     /db_xref="GeneID:208449"
                     /db_xref="MGI:MGI:2444110"
ORIGIN      
        1 mlsartmkev vywspkkvad wllenampey ceplehftgq dlinltqedf kkpplyrvss
       61 dngqrlldmi etlkmehhme ahknghangh lsigvdipnp dgsfsiktkp ngmpngfrke
      121 mikipmpepe rsqypmewgk tflaflyals cfvlttvmis vvhervppke vqpplpdtff
      181 dhfnrvqwaf siceingmil vglwlfqwll lkyksiisrr ffcivgtlyl yrcitmyvtt
      241 lpvpgmhfnc spklfgdwea qvrrimklia ggglsitgsh nmcgdylysg htvmltltyl
      301 fikeysprrl wwyhwicwll svvgifcill ahdhytvdvv vayyittrlf wwyhtmanqq
      361 vlkeasqmnl larvwwyrpf qyfeknvqgi vprsyhwpfp wpvvhlsrqv kysrlvndt
//
