Human Gene SGMS1 (ENST00000361781.7) Description and Page Index
  Description: Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA. (from RefSeq NM_147156)
RefSeq Summary (NM_147156): 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].
Gencode Transcript: ENST00000361781.7
Gencode Gene: ENSG00000198964.14
Transcript (Including UTRs)
   Position: hg38 chr10:50,305,600-50,623,956 Size: 318,357 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg38 chr10:50,307,142-50,344,114 Size: 36,973 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:50,305,600-50,623,956)mRNA (may differ from genome)Protein (413 aa)
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ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SMS1_HUMAN
DESCRIPTION: RecName: Full=Phosphatidylcholine:ceramide cholinephosphotransferase 1; EC=2.7.8.27; AltName: Full=Medulla oblongata-derived protein; Short=Protein Mob; AltName: Full=Sphingomyelin synthase 1; AltName: Full=Transmembrane protein 23;
FUNCTION: 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.
CATALYTIC ACTIVITY: A ceramide + a phosphatidylcholine = a sphingomyelin + a 1,2-diacyl-sn-glycerol.
ENZYME REGULATION: Inhibited by bacterial PC-phospholipase C inhibitor D609.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Brain, heart, kidney, liver, muscle and stomach.
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.
SIMILARITY: Belongs to the sphingomyelin synthase family.
SIMILARITY: Contains 1 SAM (sterile alpha motif) domain.
SEQUENCE CAUTION: Sequence=AAH42899.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon; Sequence=AAP37279.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon; Sequence=AAQ22363.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon; Sequence=AAQ82051.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon; Sequence=AK026683; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon; Sequence=BAD16809.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon; Sequence=CAD79708.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon;

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.35 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 241.89 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -332.80933-0.357 Picture PostScript Text
3' UTR -307.301542-0.199 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR021129 - SAM_type1
IPR025749 - Sphingomyelin_synth-like_dom

Pfam Domains:
PF14360 - PAP2 superfamily C-terminal
PF00536 - SAM domain (Sterile alpha motif)

ModBase Predicted Comparative 3D Structure on Q86VZ5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
      
      
 RGDEnsembl   
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002950 ceramide phosphoethanolamine synthase activity
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0033188 sphingomyelin synthase activity
GO:0047493 ceramide cholinephosphotransferase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0006665 sphingolipid metabolic process
GO:0006686 sphingomyelin biosynthetic process
GO:0006915 apoptotic process
GO:0016310 phosphorylation
GO:0030148 sphingolipid biosynthetic process
GO:0046513 ceramide biosynthetic process
GO:2001242 regulation of intrinsic apoptotic signaling pathway

Cellular Component:
GO:0000138 Golgi trans cisterna
GO:0000139 Golgi membrane
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030173 integral component of Golgi membrane
GO:0030176 integral component of endoplasmic reticulum membrane


-  Descriptions from all associated GenBank mRNAs
  BC042899 - Homo sapiens sphingomyelin synthase 1, mRNA (cDNA clone MGC:17342 IMAGE:4342258), complete cds.
AY280959 - Homo sapiens MOB protein mRNA, complete cds.
AK026683 - Homo sapiens cDNA: FLJ23030 fis, clone LNG01891, highly similar to HSY14155 Homo sapiens mRNA for Hmob33 protein.
AB154421 - Homo sapiens SMS1 mRNA for sphingomyelin synthase, complete cds.
AK296233 - Homo sapiens cDNA FLJ59704 complete cds, highly similar to Phosphatidylcholine:ceramide cholinephosphotransferase 1 (EC 2.7.-.-).
AY312431 - Homo sapiens HSD36 mRNA, complete cds.
AY364088 - Homo sapiens MOB1 (MOB) mRNA, partial cds, alternatively spliced.
AY332650 - Homo sapiens MOB protein (MOB) mRNA, partial cds.
FN994181 - Homo sapiens mRNA for sphingomyelin synthase 1 (SGMS1 gene), partial 3'UTR, splice variant 3g.
FN908045 - Homo sapiens mRNA for sphingomyelin synthase 1 (SGMS1 gene), splice variant 3h.
FM210200 - Homo sapiens mRNA for sphingomyelin synthase 1 (SGMS1 gene), splice variant 3e.
FN870365 - Homo sapiens mRNA for sphingomyelin synthase 1 (SGMS1 gene), splice variant 3d.
FN908146 - Homo sapiens partial mRNA for sphingomyelin synthase 1 (SGMS1 gene), splice variant 1d.
FN985166 - Homo sapiens partial mRNA for sphingomyelin synthase 1 (SGMS1 gene), splice variant 2b.
KR020022 - Homo sapiens Hum_SGMS1_1a234568, partial sequence.
KR020023 - Homo sapiens Hum_SGMS1_1a8, partial sequence.
AK311737 - Homo sapiens cDNA, FLJ18779.
KR020025 - Homo sapiens Hum_SGMS1_1a7, partial sequence.
KR020024 - Homo sapiens Hum_SGMS1_1a67, partial sequence.
KP710936 - Homo sapiens Hum_SGMS1_231ain2, complete sequence.
KP710931 - Homo sapiens Hum_SGMS1_234562, complete sequence.
KR020014 - Homo sapiens Hum_SGMS1_63456, partial sequence.
KX061766 - Homo sapiens circSGMS1_45c6, complete sequence.
KX904849 - Homo sapiens isolate SGMS1_3e6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX904848 - Homo sapiens isolate SGMS1_3d6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX904847 - Homo sapiens isolate SGMS1_3c6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX904846 - Homo sapiens isolate SGMS1_2d6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX904845 - Homo sapiens isolate SGMS1_2c6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061770 - Homo sapiens isolate SGMS1_22c6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061771 - Homo sapiens isolate SGMS1_22d6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061772 - Homo sapiens isolate SGMS1_23c6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061773 - Homo sapiens isolate SGMS1_23d6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061774 - Homo sapiens isolate SGMS1_23e6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061775 - Homo sapiens isolate SGMS1_25c6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061769 - Homo sapiens isolate SGMS1_1c6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061768 - Homo sapiens isolate SGMS1_5p1a6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061767 - Homo sapiens isolate SGMS1_1p1a6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX904844 - Homo sapiens isolate SGMS1_25c sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KP710932 - Homo sapiens Hum_SGMS1_23452, complete sequence.
KP710938 - Homo sapiens Hum_SGMS1_545, complete sequence.
Y14155 - Homo sapiens mRNA for Hmob33 protein, 3' untranslated region.
JD145710 - Sequence 126734 from Patent EP1572962.
JD088447 - Sequence 69471 from Patent EP1572962.
JD263335 - Sequence 244359 from Patent EP1572962.
JD221205 - Sequence 202229 from Patent EP1572962.
JD563888 - Sequence 544912 from Patent EP1572962.
JD527282 - Sequence 508306 from Patent EP1572962.
JD370424 - Sequence 351448 from Patent EP1572962.
JD521955 - Sequence 502979 from Patent EP1572962.
JD440463 - Sequence 421487 from Patent EP1572962.
JD087801 - Sequence 68825 from Patent EP1572962.
JD407891 - Sequence 388915 from Patent EP1572962.
KX061776 - Homo sapiens isolate SGMS1_74p7b sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061777 - Homo sapiens isolate SGMS1_77b4p7b sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KR020016 - Homo sapiens Hum_SGMS1_77b7, partial sequence.
KR020015 - Homo sapiens Hum_SGMS1_77, partial sequence.
FR686760 - Homo sapiens partial mRNA for sphingomyelin synthase 1 (SGMS1 gene), splice variant 1d.
JD072463 - Sequence 53487 from Patent EP1572962.
JD420455 - Sequence 401479 from Patent EP1572962.
JD174572 - Sequence 155596 from Patent EP1572962.
JD547742 - Sequence 528766 from Patent EP1572962.
JD168839 - Sequence 149863 from Patent EP1572962.
KP710935 - Homo sapiens Hum_SGMS1_5645, complete sequence.
KX904850 - Homo sapiens isolate SGMS1_5c6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX904843 - Homo sapiens isolate SGMS1_23e sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061765 - Homo sapiens circSGMS1_233d, complete sequence.
KX904842 - Homo sapiens isolate SGMS1_23d sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KP710933 - Homo sapiens Hum_SGMS1_233in2, complete sequence.
KX904841 - Homo sapiens isolate SGMS1_23c sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KP710934 - Homo sapiens Hum_SGMS1_22ain32, complete sequence.
KP710937 - Homo sapiens Hum_SGMS1_232, complete sequence.
KX904840 - Homo sapiens isolate SGMS1_22d sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX904839 - Homo sapiens isolate SGMS1_22c sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
JD453569 - Sequence 434593 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00600 - Sphingolipid metabolism
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein Q86VZ5 (Reactome details) participates in the following event(s):

R-HSA-429798 phosphatidylcholine + ceramide <=> sphingomyelin + diacylglycerol [SGMS1]
R-HSA-1660661 Sphingolipid de novo biosynthesis
R-HSA-428157 Sphingolipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000361781.1, ENST00000361781.2, ENST00000361781.3, ENST00000361781.4, ENST00000361781.5, ENST00000361781.6, MOB, NM_147156, Q68U43, Q6EKK0, Q75SP1, Q86VZ5, SMS1, SMS1_HUMAN, TMEM23, uc001jje.1, uc001jje.2, uc001jje.3, uc001jje.4, uc001jje.5
UCSC ID: ENST00000361781.7
RefSeq Accession: NM_147156
Protein: Q86VZ5 (aka SMS1_HUMAN)
CCDS: CCDS7240.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.