Phosphatidylcholine:ceramide cholinephosphotransferase 2
Details
- Name
- Phosphatidylcholine:ceramide cholinephosphotransferase 2
- Kind
- protein
- Synonyms
- 2.7.8.27
- SMS2
- Sphingomyelin synthase 2
- Gene Name
- SGMS2
- UniProtKB Entry
- Q8NHU3Swiss-Prot
- Organism
- Humans
- NCBI Taxonomy ID
- 9606
- Amino acid sequence
>lcl|BSEQ0011578|Phosphatidylcholine:ceramide cholinephosphotransferase 2 MDIIETAKLEEHLENQPSDPTNTYARPAEPVEEENKNGNGKPKSLSSGLRKGTKKYPDYI QIAMPTESRNKFPLEWWKTGIAFIYAVFNLVLTTVMITVVHERVPPKELSPPLPDKFFDY IDRVKWAFSVSEINGIILVGLWITQWLFLRYKSIVGRRFCFIIGTLYLYRCITMYVTTLP VPGMHFQCAPKLNGDSQAKVQRILRLISGGGLSITGSHILCGDFLFSGHTVTLTLTYLFI KEYSPRHFWWYHLICWLLSAAGIICILVAHEHYTIDVIIAYYITTRLFWWYHSMANEKNL KVSSQTNFLSRAWWFPIFYFFEKNVQGSIPCCFSWPLSWPPGCFKSSCKKYSRVQKIGED NEKST
- Number of residues
- 365
- Molecular Weight
- 42279.82
- Theoretical pI
- Not Available
- GO Classification
- Not Available
- General Function
- Sphingomyelin synthase that primarily contributes to sphingomyelin synthesis and homeostasis at the plasma membrane. Catalyzes the reversible transfer of phosphocholine moiety in sphingomyelin biosynthesis: in the forward reaction transfers phosphocholine head group of phosphatidylcholine (PC) on to ceramide (CER) to form ceramide phosphocholine (sphingomyelin, SM) and diacylglycerol (DAG) as by-product, and in the reverse reaction transfers phosphocholine from SM to DAG to form PC and CER. The direction of the reaction appears to depend on the levels of CER and DAG in the plasma membrane (PubMed:14685263, PubMed:17449912, PubMed:17982138, PubMed:18370930). Does not use free phosphorylcholine or CDP-choline as donors (PubMed:14685263). Can also transfer phosphoethanolamine head group of phosphatidylethanolamine (PE) on to ceramide (CER) to form ceramide phosphoethanolamine (CPE) (PubMed:19454763). Regulates receptor-mediated signal transduction via mitogenic DAG and proapoptotic CER, as well as via SM, a structural component of membrane rafts that serve as platforms for signal transduction and protein sorting (PubMed:17449912, PubMed:17982138). To a lesser extent, plays a role in secretory transport via regulation of DAG pool at the Golgi apparatus and its downstream effects on PRKD1 (PubMed:18370930, PubMed:21980337). Required for normal bone matrix mineralization (PubMed:30779713)
- Specific Function
- ceramide cholinephosphotransferase activity
- Pfam Domain Function
- PAP2_C (PF14360)
- Signal Regions
- Not Available
- Transmembrane Regions
- 80-100 128-148 159-179 206-226 248-268 275-295
- Cellular Location
- Cell membrane
- Gene sequence
- Not Available
- Chromosome Location
- 4
- Locus
- 4q25
- External Identifiers
Resource Link UniProtKB ID Q8NHU3 UniProtKB Entry Name SMS2_HUMAN GeneCard ID SGMS2 HGNC ID HGNC:28395 KEGG ID hsa:166929 IUPHAR/Guide To Pharmacology ID 2521 NCBI Gene ID 166929 - General References
- Not Available
Associated Data
- Drug Relations
Drug Drug group Pharmacological action? Type Actions Details Idroxioleic acid investigational yes target modulator Details