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 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
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