Gene/Proteome Database (LMPD)
LMPD ID
LMP002819
Gene ID
Species
Mus musculus (Mouse)
Gene Name
sphingomyelin synthase 2
Gene Symbol
Synonyms
4933405A16Rik; 5133401H06Rik; AI854299
Chromosome
3
Map Location
3 G3|3
Summary
Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. [provided by RefSeq, Oct 2008]
Orthologs
Proteins
| phosphatidylcholine:ceramide cholinephosphotransferase 2 | |
|---|---|
| Refseq ID | NP_083219 |
| Protein GI | 27229211 |
| UniProt ID | Q9D4B1 |
| mRNA ID | NM_028943 |
| Length | 365 |
| RefSeq Status | REVIEWED |
| MDIIETAKLEGHLESQTNDSTNTYTSPTEAVEEEGKNGKGKPKTLSNGLRKGAKKYPDYIQISMPNDSKNKFPLEWWKTGIAFVYALFNLILTTVMITVVHERVPPKELSPPLPDKFFDYFDRVKWAFSVSEINGMVLVGLWITQWLFLRYKSIVGRRFFFIMGTLYLYRCITMYVTTLPVPGMHFQCAPKLNGDSQAKIQRILRLISGGGLSITGSHILCGDFLFSGHTVVLTLTYLFIKEYSPRHFWWYHLVCWLLSAAGIICILVAHEHYTVDVIIAYYITTRLFWWYHSMANEKNLKVSSQTNFLSRAWWFPIFYFFEKNVQGSIPCCFSWPLSWPPGCFKSSCRKYSRVQKIGEDNEKST | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005794 | ISA:MGI | C | Golgi apparatus |
| GO:0030173 | ISS:UniProtKB | C | integral component of Golgi membrane |
| GO:0045203 | IEA:Ensembl | C | integral component of cell outer membrane |
| GO:0005887 | ISS:UniProtKB | C | integral component of plasma membrane |
| GO:0047493 | ISS:UniProtKB | F | ceramide cholinephosphotransferase activity |
| GO:0016301 | IEA:UniProtKB-KW | F | kinase activity |
| GO:0033188 | IEA:UniProtKB-EC | F | sphingomyelin synthase activity |
| GO:0006686 | ISS:UniProtKB | P | sphingomyelin biosynthetic process |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR025749 | Sphingomyelin synthase-like domain |
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Catalytic Activity | A ceramide + a phosphatidylcholine = a sphingomyelin + a 1,2-diacyl-sn-glycerol. |
| Disruption Phenotype | Null mice are viable but exhibit increased cell membrane ceramide and decreased sphingomyelin levels. In both skeletal muscle and adipose tissue, there is a significant increase in glucose update. This leads to increased insulin sensitivity and ameliorated high-fat diet-induced obesity. There is blunted NFKB1- and MAP kinase-mediated responses to inflammatory stimuli and macrophages display increased cholesterol efflux into blood circulation. Liver SMS activity is dramatically reduced (by about 80%) but only small change in macrophage SMS2 activity (16%). No change in glycosphingolipid levels in plasma. Atherosclerosis in SMS2(-/-)/LDLR(-/-) mice is significantly decreased. {ECO:0000269|PubMed:19590047, ECO:0000269|PubMed:21844222, ECO:0000269|PubMed:22580896}. |
| 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. Plasma membrane SMS2 can also convert phosphatidylethanolamine (PE) to ceramide phosphatidylethanolamine (CPE). Major form in liver. Required for cell growth in certain cell types. Regulator of cell surface levels of ceramide, an important mediator of signal transduction and apoptosis. Regulation of sphingomyelin (SM) levels at the cell surface affects insulin sensitivity. {ECO:0000269|PubMed:19590047, ECO:0000269|PubMed:21844222, ECO:0000269|PubMed:22580896, ECO:0000269|PubMed:22849442}. |
| Ptm | Palmitoylated on Cys-331, Cys-332, Cys-343 and Cys-348; which plays an important role in plasma membrane localization. |
| Similarity | Belongs to the sphingomyelin synthase family. |
| Subcellular Location | Cell membrane ; Multi-pass membrane protein . Golgi apparatus membrane {ECO:0000250}; Multi-pass membrane protein . Note=Predominantly plasma membrane, some in Golgi apparatus. |
| Tissue Specificity | Expressed in liver and macrophages. |
Identical and Related Proteins
Unique RefSeq proteins for LMP002819 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 27229211 | RefSeq | NP_083219 | 365 | phosphatidylcholine:ceramide cholinephosphotransferase 2 |
Identical Sequences to LMP002819 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:27229211 | RefSeq | XP_006502257.1 | 365 | PREDICTED: phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X2 [Mus musculus] |
| GI:27229211 | RefSeq | XP_006502258.1 | 365 | PREDICTED: phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X3 [Mus musculus] |
| GI:27229211 | RefSeq | XP_006502259.1 | 365 | PREDICTED: phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X4 [Mus musculus] |
| GI:27229211 | RefSeq | XP_006502260.1 | 365 | PREDICTED: phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X5 [Mus musculus] |
| GI:27229211 | RefSeq | XP_006502261.1 | 365 | PREDICTED: phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X6 [Mus musculus] |
| GI:27229211 | RefSeq | XP_006502262.1 | 365 | PREDICTED: phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X7 [Mus musculus] |
Related Sequences to LMP002819 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:27229211 | GenBank | AAY84706.2 | 365 | sphingomyelin synthase 2 [Rattus norvegicus] |
| GI:27229211 | GenBank | EDL82215.1 | 365 | similar to RIKEN cDNA 4933405A16, isoform CRA_a [Rattus norvegicus] |
| GI:27229211 | GenBank | EDL82216.1 | 365 | similar to RIKEN cDNA 4933405A16, isoform CRA_a [Rattus norvegicus] |
| GI:27229211 | RefSeq | NP_001014065.1 | 365 | phosphatidylcholine:ceramide cholinephosphotransferase 2 [Rattus norvegicus] |
| GI:27229211 | RefSeq | XP_008759723.1 | 365 | PREDICTED: phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X1 [Rattus norvegicus] |
| GI:27229211 | SwissProt | Q4JM44.2 | 365 | RecName: Full=Phosphatidylcholine:ceramide cholinephosphotransferase 2; AltName: Full=Sphingomyelin synthase 2 [Rattus norvegicus] |