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Q86VZ5

- SMS1_HUMAN

UniProt

Q86VZ5 - SMS1_HUMAN

Protein

Phosphatidylcholine:ceramide cholinephosphotransferase 1

Gene

SGMS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 2 (16 Feb 2004)
      Previous versions | rss
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    Functioni

    Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Golgi apparatus SMS1 directly and specifically recognizes the choline head group on the substrate, requiring two fatty chains on the choline-P donor molecule in order to be recognized efficiently as a substrate. Major form in macrophages. Required for cell growth in certain cell types such as HeLa cells. Suppresses BAX-mediated apoptosis and also prevents cell death in response to stimuli such as hydrogen peroxide, osmotic stress, elevated temperature and exogenously supplied sphingolipids. May protect against cell death by reversing the stress-inducible increase in levels of proapoptotic ceramide.2 Publications

    Catalytic activityi

    A ceramide + a phosphatidylcholine = a sphingomyelin + a 1,2-diacyl-sn-glycerol.

    Enzyme regulationi

    Inhibited by bacterial PC-phospholipase C inhibitor D609.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei291 – 29111 Publication
    Active sitei334 – 33411 Publication
    Active sitei338 – 33811 Publication

    GO - Molecular functioni

    1. ceramide cholinephosphotransferase activity Source: UniProtKB
    2. kinase activity Source: UniProtKB-KW
    3. sphingomyelin synthase activity Source: HGNC

    GO - Biological processi

    1. apoptotic process Source: UniProtKB-KW
    2. cell growth Source: HGNC
    3. small molecule metabolic process Source: Reactome
    4. sphingolipid biosynthetic process Source: Reactome
    5. sphingolipid metabolic process Source: Reactome
    6. sphingomyelin biosynthetic process Source: UniProtKB

    Keywords - Molecular functioni

    Kinase, Transferase

    Keywords - Biological processi

    Apoptosis, Lipid metabolism, Sphingolipid metabolism

    Enzyme and pathway databases

    BRENDAi2.7.8.27. 2681.
    ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Phosphatidylcholine:ceramide cholinephosphotransferase 1 (EC:2.7.8.27)
    Alternative name(s):
    Medulla oblongata-derived protein
    Short name:
    Protein Mob
    Sphingomyelin synthase 1
    Transmembrane protein 23
    Gene namesi
    Name:SGMS1
    Synonyms:MOB, SMS1, TMEM23
    OrganismiHomo sapiens (Human)Imported
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:29799. SGMS1.

    Subcellular locationi

    Golgi apparatus membrane 3 Publications; Multi-pass membrane protein 3 Publications

    GO - Cellular componenti

    1. endoplasmic reticulum Source: HGNC
    2. Golgi membrane Source: Reactome
    3. Golgi trans cisterna Source: MGI
    4. integral component of Golgi membrane Source: UniProtKB
    5. membrane Source: UniProtKB
    6. nucleus Source: HGNC
    7. plasma membrane Source: HGNC

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi289 – 2891S → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication
    Mutagenesisi291 – 2911H → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication
    Mutagenesisi334 – 3341H → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication
    Mutagenesisi338 – 3381D → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication

    Organism-specific databases

    PharmGKBiPA162403042.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 419419Phosphatidylcholine:ceramide cholinephosphotransferase 1PRO_0000221068Add
    BLAST

    Proteomic databases

    MaxQBiQ86VZ5.
    PaxDbiQ86VZ5.
    PRIDEiQ86VZ5.

    PTM databases

    PhosphoSiteiQ86VZ5.

    Expressioni

    Tissue specificityi

    Brain, heart, kidney, liver, muscle and stomach.3 Publications

    Gene expression databases

    ArrayExpressiQ86VZ5.
    BgeeiQ86VZ5.
    CleanExiHS_SGMS1.
    GenevestigatoriQ86VZ5.

    Organism-specific databases

    HPAiHPA045191.

    Interactioni

    Protein-protein interaction databases

    BioGridi129227. 3 interactions.
    IntActiQ86VZ5. 1 interaction.
    MINTiMINT-2879302.
    STRINGi9606.ENSP00000354829.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86VZ5.
    SMRiQ86VZ5. Positions 1-84.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini331 – 41989CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei142 – 16221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei190 – 21021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei221 – 24121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei282 – 30221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei310 – 33021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini13 – 7664SAMCuratedPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the sphingomyelin synthase family.Curated
    Contains 1 SAM (sterile alpha motif) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG259509.
    HOGENOMiHOG000233822.
    HOVERGENiHBG048216.
    InParanoidiQ86VZ5.
    KOiK04714.
    PhylomeDBiQ86VZ5.

    Family and domain databases

    Gene3Di1.10.150.50. 1 hit.
    InterProiIPR001660. SAM.
    IPR013761. SAM/pointed.
    IPR021129. SAM_type1.
    IPR025749. Sphingomyelin_synth-like_dom.
    [Graphical view]
    PfamiPF14360. PAP2_C. 1 hit.
    PF00536. SAM_1. 1 hit.
    [Graphical view]
    SUPFAMiSSF47769. SSF47769. 1 hit.
    PROSITEiPS50105. SAM_DOMAIN. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q86VZ5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MLSASTMKEV VYWSPKKVAD WLLENAMPEY CEPLEHFTGQ DLINLTQEDF    50
    KKPPLCRVSS DNGQRLLDMI ETLKMEHHLE AHKNGHANGH LNIGVDIPTP 100
    DGSFSIKIKP NGMPNGYRKE MIKIPMPELE RSQYPMEWGK TFLAFLYALS 150
    CFVLTTVMIS VVHERVPPKE VQPPLPDTFF DHFNRVQWAF SICEINGMIL 200
    VGLWLIQWLL LKYKSIISRR FFCIVGTLYL YRCITMYVTT LPVPGMHFNC 250
    SPKLFGDWEA QLRRIMKLIA GGGLSITGSH NMCGDYLYSG HTVMLTLTYL 300
    FIKEYSPRRL WWYHWICWLL SVVGIFCILL AHDHYTVDVV VAYYITTRLF 350
    WWYHTMANQQ VLKEASQMNL LARVWWYRPF QYFEKNVQGI VPRSYHWPFP 400
    WPVVHLSRQV KYSRLVNDT 419
    Length:419
    Mass (Da):49,208
    Last modified:February 16, 2004 - v2
    Checksum:i52C2A985E3F27E44
    GO
    Isoform 2 (identifier: Q86VZ5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-205: Missing.
         206-214: IQWLLLKYK → MTRMFLNNP

    Show »
    Length:214
    Mass (Da):25,602
    Checksum:i1683928AB57C2FB2
    GO

    Sequence cautioni

    The sequence AAH42899.1 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.
    The sequence AAP37279.1 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.
    The sequence AAQ22363.1 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.
    The sequence AAQ82051.1 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.
    The sequence AK026683 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.
    The sequence BAD16809.1 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.
    The sequence CAD79708.1 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti168 – 1681P → L in AAQ82051. 1 PublicationCurated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 205205Missing in isoform 2. 1 PublicationVSP_027223Add
    BLAST
    Alternative sequencei206 – 2149IQWLLLKYK → MTRMFLNNP in isoform 2. 1 PublicationVSP_027224

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB154421 mRNA. Translation: BAD16809.1. Sequence problems.
    AY280959 mRNA. Translation: AAP37279.1. Sequence problems.
    AY312431 mRNA. Translation: AAQ82051.1. Sequence problems.
    AK026683 mRNA. No translation available.
    AC069547 Genomic DNA. No translation available.
    AL117341 Genomic DNA. No translation available.
    AL596137 Genomic DNA. No translation available.
    BC042899 mRNA. Translation: AAH42899.1. Sequence problems.
    AY364088 mRNA. Translation: AAR13294.1.
    AY332650 mRNA. Translation: AAQ22363.1. Sequence problems.
    BN000143 mRNA. Translation: CAD79708.1. Sequence problems.
    RefSeqiNP_671512.1. NM_147156.3.
    XP_005269732.1. XM_005269675.1.
    UniGeneiHs.654698.

    Genome annotation databases

    EnsembliENST00000361543; ENSP00000355235; ENSG00000198964.
    GeneIDi259230.
    KEGGihsa:259230.
    UCSCiuc001jje.3. human. [Q86VZ5-1]

    Polymorphism databases

    DMDMi44888473.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB154421 mRNA. Translation: BAD16809.1 . Sequence problems.
    AY280959 mRNA. Translation: AAP37279.1 . Sequence problems.
    AY312431 mRNA. Translation: AAQ82051.1 . Sequence problems.
    AK026683 mRNA. No translation available.
    AC069547 Genomic DNA. No translation available.
    AL117341 Genomic DNA. No translation available.
    AL596137 Genomic DNA. No translation available.
    BC042899 mRNA. Translation: AAH42899.1 . Sequence problems.
    AY364088 mRNA. Translation: AAR13294.1 .
    AY332650 mRNA. Translation: AAQ22363.1 . Sequence problems.
    BN000143 mRNA. Translation: CAD79708.1 . Sequence problems.
    RefSeqi NP_671512.1. NM_147156.3.
    XP_005269732.1. XM_005269675.1.
    UniGenei Hs.654698.

    3D structure databases

    ProteinModelPortali Q86VZ5.
    SMRi Q86VZ5. Positions 1-84.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 129227. 3 interactions.
    IntActi Q86VZ5. 1 interaction.
    MINTi MINT-2879302.
    STRINGi 9606.ENSP00000354829.

    PTM databases

    PhosphoSitei Q86VZ5.

    Polymorphism databases

    DMDMi 44888473.

    Proteomic databases

    MaxQBi Q86VZ5.
    PaxDbi Q86VZ5.
    PRIDEi Q86VZ5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361543 ; ENSP00000355235 ; ENSG00000198964 .
    GeneIDi 259230.
    KEGGi hsa:259230.
    UCSCi uc001jje.3. human. [Q86VZ5-1 ]

    Organism-specific databases

    CTDi 259230.
    GeneCardsi GC10M052065.
    HGNCi HGNC:29799. SGMS1.
    HPAi HPA045191.
    MIMi 611573. gene.
    neXtProti NX_Q86VZ5.
    PharmGKBi PA162403042.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG259509.
    HOGENOMi HOG000233822.
    HOVERGENi HBG048216.
    InParanoidi Q86VZ5.
    KOi K04714.
    PhylomeDBi Q86VZ5.

    Enzyme and pathway databases

    BRENDAi 2.7.8.27. 2681.
    Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

    Miscellaneous databases

    ChiTaRSi SGMS1. human.
    GeneWikii SGMS1.
    GenomeRNAii 259230.
    NextBioi 93062.
    PROi Q86VZ5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q86VZ5.
    Bgeei Q86VZ5.
    CleanExi HS_SGMS1.
    Genevestigatori Q86VZ5.

    Family and domain databases

    Gene3Di 1.10.150.50. 1 hit.
    InterProi IPR001660. SAM.
    IPR013761. SAM/pointed.
    IPR021129. SAM_type1.
    IPR025749. Sphingomyelin_synth-like_dom.
    [Graphical view ]
    Pfami PF14360. PAP2_C. 1 hit.
    PF00536. SAM_1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47769. SSF47769. 1 hit.
    PROSITEi PS50105. SAM_DOMAIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Expression cloning of a human cDNA restoring sphingomyelin synthesis and cell growth in sphingomyelin synthase-defective lymphoid cells."
      Yamaoka S., Miyaji M., Kitano T., Umehara H., Okazaki T.
      J. Biol. Chem. 279:18688-18693(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Complete cDNA sequence of a novel gene, human mob."
      Yuan H.F., Wang X., Wang D.M., Li H.M., Feng K., Bai C.X., Zhang R., Chen L., Li Y.H., Gao Y.H., Zhen M., Yue W., Xie C., Xie X.Y., Niu L.L., Gao W.J., Zhang J., Cao H., Pei X.T.
      Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Fetal liver.
    3. "A new spermatogenesis-related gene."
      Zhao H., Miao S.Y., Zhang X.D., Liang G., Qiao Y., Wang L.F.
      Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Testis.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Lung.
    5. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: LymphImported.
    7. "Human gene MOB: structure specification and aspects of transcriptional activity."
      Vladychenskaya I.P., Dergunova L.V., Dmitrieva V.G., Limborska S.A.
      Gene 338:257-265(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-296 (ISOFORM 2), IDENTIFICATION (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Cerebellum.
    8. "Structure and functional organization of a novel human brain-specific gene MOB encoding a phylogenetically conserved transmembrane protein."
      Vladychenskaya I.P., Dergunova L.V., Limborska S.A., Dmitrieva V.G.
      Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-283 (ISOFORM 1).
    9. "In vitro and in silico analysis of the predicted human MOB gene encoding a phylogenetically conserved transmembrane protein."
      Vladychenskaya I.P., Dergunova L.V., Limborska S.A.
      Biomol. Eng. 18:263-268(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION (ISOFORM 1), TISSUE SPECIFICITY.
    10. "Identification of a family of animal sphingomyelin synthases."
      Huitema K., Van Den Dikkenberg J., Brouwers J.F.H.M., Holthuis J.C.
      EMBO J. 23:33-44(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, ENZYME REGULATION, TOPOLOGY OF C-TERMINUS.
    11. "Adenovirus-mediated overexpression of sphingomyelin synthases 1 and 2 increases the atherogenic potential in mice."
      Dong J., Liu J., Lou B., Li Z., Ye X., Wu M., Jiang X.-C.
      J. Lipid Res. 47:1307-1314(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: OVEREXPRESSION IN MOUSE.
    12. "Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells."
      Tafesse F.G., Huitema K., Hermansson M., van der Poel S., van den Dikkenberg J., Uphoff A., Somerharju P., Holthuis J.C.M.
      J. Biol. Chem. 282:17537-17547(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    13. "The domain responsible for sphingomyelin synthase (SMS) activity."
      Yeang C., Varshney S., Wang R., Zhang Y., Ye D., Jiang X.C.
      Biochim. Biophys. Acta 1781:610-617(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACTIVE SITES, SUBCELLULAR LOCATION, MUTAGENESIS OF SER-289; HIS-291; HIS-334 AND ASP-338.

    Entry informationi

    Entry nameiSMS1_HUMAN
    AccessioniPrimary (citable) accession number: Q86VZ5
    Secondary accession number(s): Q68U43, Q6EKK0, Q75SP1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 1, 2004
    Last sequence update: February 16, 2004
    Last modified: October 1, 2014
    This is version 107 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    Overexpression of the human protein in mouse causes increased non-HDL-sphingomyelin and non-HDL cholesterol levels, decreased HDL-sphingomyelin and HDL-cholesterol levels and increases lipoprotein atherogenic potential.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3