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2024-03-29 18:53:46, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_147156               3767 bp    mRNA    linear   PRI 15-JUN-2013
DEFINITION  Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.
ACCESSION   NM_147156
VERSION     NM_147156.3  GI:41350331
KEYWORDS    RefSeq.
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 3767)
  AUTHORS   Hart,A.B., Engelhardt,B.E., Wardle,M.C., Sokoloff,G., Stephens,M.,
            de Wit,H. and Palmer,A.A.
  TITLE     Genome-wide association study of d-amphetamine response in healthy
            volunteers identifies putative associations, including cadherin 13
            (CDH13)
  JOURNAL   PLoS ONE 7 (8), E42646 (2012)
   PUBMED   22952603
REFERENCE   2  (bases 1 to 3767)
  AUTHORS   Barcelo-Coblijn,G., Martin,M.L., de Almeida,R.F.,
            Noguera-Salva,M.A., Marcilla-Etxenike,A., Guardiola-Serrano,F.,
            Luth,A., Kleuser,B., Halver,J.E. and Escriba,P.V.
  TITLE     Sphingomyelin and sphingomyelin synthase (SMS) in the malignant
            transformation of glioma cells and in 2-hydroxyoleic acid therapy
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 108 (49), 19569-19574 (2011)
   PUBMED   22106271
  REMARK    GeneRIF: Data indicate that the increased sphingomyelin mass was
            due to a rapid and highly specific activation of sphingomyelin
            synthases SMS1 and SMS2.
REFERENCE   3  (bases 1 to 3767)
  AUTHORS   Shakor,A.B., Taniguchi,M., Kitatani,K., Hashimoto,M., Asano,S.,
            Hayashi,A., Nomura,K., Bielawski,J., Bielawska,A., Watanabe,K.,
            Kobayashi,T., Igarashi,Y., Umehara,H., Takeya,H. and Okazaki,T.
  TITLE     Sphingomyelin synthase 1-generated sphingomyelin plays an important
            role in transferrin trafficking and cell proliferation
  JOURNAL   J. Biol. Chem. 286 (41), 36053-36062 (2011)
   PUBMED   21856749
  REMARK    GeneRIF: SMS1-mediated SM synthesis directs Tf-TfR to undergo
            clathrin-dependent endocytosis and recycling, promoting the
            proliferation of lymphoma cells.
REFERENCE   4  (bases 1 to 3767)
  AUTHORS   Rozhkova,A.V., Dmitrieva,V.G., Zhapparova,O.N., Sudarkina,O.Y.,
            Nadezhdina,E.S., Limborska,S.A. and Dergunova,L.V.
  TITLE     Human sphingomyelin synthase 1 gene (SMS1): organization, multiple
            mRNA splice variants and expression in adult tissues
  JOURNAL   Gene 481 (2), 65-75 (2011)
   PUBMED   21549185
  REMARK    GeneRIF: Our results indicate that the regulation of SMS1
            expression is complex and occurs at the transcriptional,
            post-transcriptional and translational levels.
REFERENCE   5  (bases 1 to 3767)
  AUTHORS   Subathra,M., Qureshi,A. and Luberto,C.
  TITLE     Sphingomyelin synthases regulate protein trafficking and secretion
  JOURNAL   PLoS ONE 6 (9), E23644 (2011)
   PUBMED   21980337
  REMARK    GeneRIF: SMS1 and SMS2 are capable of regulating TGN-mediated
            protein trafficking and secretion
REFERENCE   6  (bases 1 to 3767)
  AUTHORS   Vladychenskaya,I.P., Dergunova,L.V., Dmitrieva,V.G. and
            Limborska,S.A.
  TITLE     Human gene MOB: structure specification and aspects of
            transcriptional activity
  JOURNAL   Gene 338 (2), 257-265 (2004)
   PUBMED   15315829
  REMARK    GeneRIF: MOB gene activity is believed to be controlled at least at
            the transcriptional and the posttranscriptional levels, strictly
            regulating the amount of the encoded protein product.
REFERENCE   7  (bases 1 to 3767)
  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
  REMARK    GeneRIF: SMS1 is responsible for SM synthase activity in mammalian
            cells and plays a critical role in cell growth of lymphoid cells.
REFERENCE   8  (bases 1 to 3767)
  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   9  (bases 1 to 3767)
  AUTHORS   Vladychenskaya,I.P., Dergunova,L.V. and Limborska,S.A.
  TITLE     In vitro and in silico analysis of the predicted human MOB gene
            encoding a phylogenetically conserved transmembrane protein
  JOURNAL   Biomol. Eng. 18 (6), 263-268 (2002)
   PUBMED   11841947
  REMARK    GeneRIF: The 1.6 kb Hmob33 clone obtained from the medulla
            oblongata cDNA library and mapped to the human chromosome 10 was
            examined to find the coding region(MOB)
REFERENCE   10 (bases 1 to 3767)
  AUTHORS   Albi,E. and Magni,M.V.
  TITLE     Sphingomyelin synthase in rat liver nuclear membrane and chromatin
  JOURNAL   FEBS Lett. 460 (2), 369-372 (1999)
   PUBMED   10544266
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM764008.1, AY332650.1,
            BC042899.1 and BM141853.1.
            On Jan 27, 2004 this sequence version replaced gi:33636699.
            
            Summary: The protein encoded by this gene is predicted to be a
            five-pass transmembrane protein. This gene may be predominately
            expressed in brain. [provided by RefSeq, Jul 2008].
            
            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 :: BN000143.1, AY280959.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-169               BM764008.1         1-169
            170-1695            AY332650.1         45-1570
            1696-3207           BC042899.1         957-2468
            3208-3738           BM141853.1         5-535               c
            3739-3767           BC042899.1         3000-3028
FEATURES             Location/Qualifiers
     source          1..3767
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.2"
     gene            1..3767
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /note="sphingomyelin synthase 1"
                     /db_xref="GeneID:259230"
                     /db_xref="HGNC:29799"
                     /db_xref="HPRD:18203"
                     /db_xref="MIM:611573"
     exon            1..271
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /inference="alignment:Splign:1.39.8"
     exon            272..366
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /inference="alignment:Splign:1.39.8"
     exon            367..457
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /inference="alignment:Splign:1.39.8"
     exon            458..500
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /inference="alignment:Splign:1.39.8"
     exon            501..642
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /inference="alignment:Splign:1.39.8"
     exon            643..723
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /inference="alignment:Splign:1.39.8"
     exon            724..1577
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /inference="alignment:Splign:1.39.8"
     variation       767
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11555525"
     misc_feature    901..903
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /note="upstream in-frame stop codon"
     CDS             955..2196
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /EC_number="2.7.8.27"
                     /note="transmembrane protein 23; medulla oblongata-derived
                     protein; protein Mob"
                     /codon_start=1
                     /product="phosphatidylcholine:ceramide
                     cholinephosphotransferase 1"
                     /protein_id="NP_671512.1"
                     /db_xref="GI:29789379"
                     /db_xref="CCDS:CCDS7240.1"
                     /db_xref="GeneID:259230"
                     /db_xref="HGNC:29799"
                     /db_xref="HPRD:18203"
                     /db_xref="MIM:611573"
                     /translation="
MKEVVYWSPKKVADWLLENAMPEYCEPLEHFTGQDLINLTQEDFKKPPLCRVSSDNGQRLLDMIETLKMEHHLEAHKNGHANGHLNIGVDIPTPDGSFSIKIKPNGMPNGYRKEMIKIPMPELERSQYPMEWGKTFLAFLYALSCFVLTTVMISVVHERVPPKEVQPPLPDTFFDHFNRVQWAFSICEINGMILVGLWLIQWLLLKYKSIISRRFFCIVGTLYLYRCITMYVTTLPVPGMHFNCSPKLFGDWEAQLRRIMKLIAGGGLSITGSHNMCGDYLYSGHTVMLTLTYLFIKEYSPRRLWWYHWICWLLSVVGIFCILLAHDHYTVDVVVAYYITTRLFWWYHTMANQQVLKEASQMNLLARVWWYRPFQYFEKNVQGIVPRSYHWPFPWPVVHLSRQVKYSRLVNDT
"
     misc_feature    955..1170
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /note="SAM domain of sphingomyelin synthase; Region:
                     SAM_SGMS1; cd09514"
                     /db_xref="CDD:188913"
     misc_feature    964..1158
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /note="Sterile alpha motif; Region: SAM; smart00454"
                     /db_xref="CDD:197735"
     misc_feature    <1801..1998
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /note="PAP2_like proteins, a super-family of histidine
                     phosphatases and vanadium haloperoxidases, includes type 2
                     phosphatidic acid phosphatase or lipid phosphate
                     phosphatase (LPP), Glucose-6-phosphatase,
                     Phosphatidylglycerophosphatase B and bacterial acid...;
                     Region: PAP2_like; cd01610"
                     /db_xref="CDD:48084"
     misc_feature    order(1801..1809,1918..1920,1936..1938,1948..1950)
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /note="active site"
                     /db_xref="CDD:48084"
     exon            1578..1695
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /inference="alignment:Splign:1.39.8"
     exon            1696..1849
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /inference="alignment:Splign:1.39.8"
     exon            1850..2016
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /inference="alignment:Splign:1.39.8"
     exon            2017..3753
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /inference="alignment:Splign:1.39.8"
     STS             2094..2234
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /standard_name="RH99240"
                     /db_xref="UniSTS:88041"
     STS             2188..2387
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /standard_name="RH80900"
                     /db_xref="UniSTS:92798"
     STS             2534..2637
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /standard_name="BF055346"
                     /db_xref="UniSTS:278111"
     variation       3208
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:14327"
     STS             3548..3667
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /standard_name="A007I09"
                     /db_xref="UniSTS:8878"
     polyA_signal    3597..3602
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
     polyA_site      3618
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /experiment="experimental evidence, no additional details
                     recorded"
     polyA_site      3619
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /experiment="experimental evidence, no additional details
                     recorded"
     polyA_signal    3714..3719
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
     polyA_signal    3733..3738
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
     polyA_site      3738
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
     polyA_site      3753
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
ORIGIN      
agcggactgggcatgctcggcagcccgggaggctcgcggtggcaagtcgaaagcgttcgcaccagcggggcagcggctgcgggcggcaggcggcgggcaggtcgggagtgagaaggaccggcctgggctgactgctctcccctcgcgcctagggagccggtcggagagcgcgattggggtgcggagccccgacgctgccctgccccggatttcattccgcggcgggggctccgcgagcggaattccggcggctgccgtgactccagtgcaacgtgacgacagcatgtacgatccctgaatgggcccgtgggcatatttagtcattcatttttgatcaggagaaagaagacagccatcatttgaaaggtaaagcttcagcgactgaaggagtgtggactttttgaatttcaagaacagtaaagttggaacacagcagagggtgtgtaataaaatacagattggaaagaagactgatgaagaaaaataacagcatgattcaggcacaccattgagttctttgggatgcccgaaagtgtctggttgggaaacatgaaatagaagacgagaacctgcctcagcaagcgtacctgagaatacttttaaaggaacctgttgataaatgcaaaacagtggctgttgcaggtgatggaactgtactggaacaatgggagaagctggtagcttataggaagccaagatgaccagaatgtttttaaataatccaaggaagaatcctgctcaaaaatgaggtgaattaatacttgggcgctcaggaaccctggacagctacatgaggtgtttaaaaactgccctgaccatcttgccaaacaagtctctgctcatgaggccccacaggatgaacgagccgaggcaggacagtgtcctgccctgtcggaacagtgactgctgacctgccaagagagagctggggactgcctgctgtctgccagtacaatgaaggaagtggtttattggtcacccaagaaggtggcagactggctgctggagaatgctatgccagaatactgtgagcctctggagcatttcacaggccaggacttgatcaacctaacccaagaggatttcaaaaaaccccccttgtgccgagtctcctctgacaatgggcagcggctcctggacatgatagaaaccctgaaaatggagcaccatttggaagcacacaagaacggccatgccaatgggcacctcaacattggcgtagacatccccacccccgacggcagcttcagcatcaagattaaacccaacgggatgccaaatgggtataggaaagagatgataaagatccccatgccagaactggagcgctctcagtaccccatggagtggggcaagacttttctggcctttctttatgcactttcctgtttcgttctcaccacagtgatgatctcggtcgtccacgaacgagtacctcctaaggaggtgcagcctccactaccggacacattttttgaccattttaaccgggtgcagtgggccttttctatttgtgaaattaatggcatgatccttgtaggactctggttaattcagtggctgctcttaaaatacaagtctattattagcagaagatttttctgcatagttggcacgctgtacctgtatcggtgtattacaatgtatgtaactacactcccagtacctggtatgcatttcaactgttctccgaagcttttcggagactgggaagcccaactgcgaagaataatgaagctcattgctggaggtggcttgtctatcactggctctcacaacatgtgtggggactatctgtacagcggccacacggtcatgctaacacttacctacttatttatcaaagagtattcccctcggcgactctggtggtatcactggatttgctggcttctcagcgtagttggaatcttctgtattctcttagcgcatgaccactacactgtggacgtggtggtggcatattacatcaccacgagactcttctggtggtatcacactatggccaatcagcaagtgctaaaggaagcttcccagatgaacctcctggccagggtgtggtggtacaggccatttcagtactttgaaaagaatgtccaaggaattgtacctcgatcttaccattggcctttcccctggccagtagtccacctcagtaggcaagttaaatacagccggctggtgaatgacacataacagctgtacaaagtggggaaaagacaaattgtccgaagtgctaagaactccatgagagaagatgccataaaataaacacctccctaatcctattatctttcaatggttaccttgacttaacctattgagttacctggtcagcactgtgatctttttttctctccaaaggacctgcgttggacaacaataaagaaaaatttaacctatcatgcactgtacacatttcctgttcataagtttgggatttacataacccgcaaccaccatgttcctttgtatatgatgcagcagcataaatgtaagcttttatatcataagttctggtctttccagtcacatctggaaataaagcgtattattttcttgggaaaacatacttttcatatctcttgccccaaagattgggctgtaagccattttctagcaaatgtctctatgaaggtttctaagtacctgaatggggtttgattctgaaatctttctacctgttgcaccgatattcaaataaaaatgatagacacagaaaggtttggtaactttgggttttgtaaaatcagcaaaggcagtgtttcaaaaagtgcaaaaaaaaagattctgttataaagtgattttctaagtatttcctaactttatttttcaaaatgatgttatgaacaccaaatttaaagatttttaacatgtcagagagaagagagttaaaatttaaaaatgcatcttgggagagaaatttgtctatgtttctagtgcctttcttgtcttgattgtatggtcagtaggcaatcttaaatgtttttatttaaaataaagtattccttgaaaatataaatatatgtatacactactaaattttgcatttatagctaaattgaatcagaagactgcttatggttttaaaattgcaatgacttaaataatgaggttgttaattagagtcagagcctgttcacatattgtgatcaggtagcaatgacatgtaccacttaaattattttatcgtcgatttggtagttcaattttaactactcaatgaaaacagccatgaatatcttttcttaaagagagttttgaaaatgatcacttacctaaaacttgaaagctatgaattagttatccatactctcatgacaattttgttggtgaacaacaaaaaagagatctatttctttaaaagatatttgtgcagaaactgcatgtaactctaagttttactcctaacatacatatgtttggggaagtattctattctatacttgccaatgtggagaacaaaatagttttttaagaatgaagaagtatatatatccattctgtattttacgtgcagcagaattatcttccgtaggatttttttgtgtattcacaaggtgatatttgtattgtaaaacaataatggtgaaggaaataaaaaggcttttaaaattttgtttgttttaaatctttgtaaagttattattccagagagtatactggtatcttacagcttacctagatcataaattaatcaaaatgcactttttaataaaaactgatacttaaaataaatggctgttatttctaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:259230 -> Molecular function: GO:0016301 [kinase activity] evidence: IEA
            GeneID:259230 -> Molecular function: GO:0033188 [sphingomyelin synthase activity] evidence: IMP
            GeneID:259230 -> Molecular function: GO:0047493 [ceramide cholinephosphotransferase activity] evidence: IDA
            GeneID:259230 -> Biological process: GO:0006665 [sphingolipid metabolic process] evidence: TAS
            GeneID:259230 -> Biological process: GO:0006686 [sphingomyelin biosynthetic process] evidence: IDA
            GeneID:259230 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
            GeneID:259230 -> Biological process: GO:0016049 [cell growth] evidence: IDA
            GeneID:259230 -> Biological process: GO:0030148 [sphingolipid biosynthetic process] evidence: TAS
            GeneID:259230 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
            GeneID:259230 -> Cellular component: GO:0000138 [Golgi trans cisterna] evidence: IDA
            GeneID:259230 -> Cellular component: GO:0000139 [Golgi membrane] evidence: TAS
            GeneID:259230 -> Cellular component: GO:0005634 [nucleus] evidence: TAS
            GeneID:259230 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: TAS
            GeneID:259230 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
            GeneID:259230 -> Cellular component: GO:0030173 [integral to Golgi membrane] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_671512 -> EC 2.7.8.27

by @meso_cacase at DBCLS
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