SGMS1

Sphingomyelin synthase 1

PDB rendering based on 2d8c.

Available structures
PDB	2d8c

Identifiers

Symbols

SGMS1; MGC17342; MOB; MOB1; SMS1; TMEM23; hmob33

External IDs

OMIM: 611573 MGI: 2444110 HomoloGene: 27040 GeneCards: SGMS1 Gene

EC number

2.7.8.27

Gene Ontology
Molecular function	• kinase activity • transferase activity • sphingomyelin synthase activity • sphingomyelin synthase activity • ceramide cholinephosphotransferase activity
Cellular component	• Golgi trans cisterna • Golgi membrane • nucleus • endoplasmic reticulum • Golgi apparatus • plasma membrane • integral to membrane • integral to Golgi membrane
Biological process	• lipid metabolic process • sphingolipid metabolic process • sphingomyelin biosynthetic process • apoptosis • cell growth
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 10:
52.07 – 52.38 Mb

Chr 19:
32.2 – 32.46 Mb

PubMed search

[1]

[2]

Phosphatidylcholine:ceramide cholinephosphotransferase 1 is an enzyme that in humans is encoded by the SGMS1 gene.^[1]^[2]^[3]

The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain.^[3]

References

^ Vladychenskaya IP, Dergunova LV, Limborska SA (Feb 2002). "In vitro and in silico analysis of the predicted human MOB gene encoding a phylogenetically conserved transmembrane protein". Biomol Eng 18 (6): 263–8. doi:10.1016/S1389-0344(01)00110-1. PMID 11841947.
^ Yamaoka S, Miyaji M, Kitano T, Umehara H, Okazaki T (Apr 2004). "Expression cloning of a human cDNA restoring sphingomyelin synthesis and cell growth in sphingomyelin synthase-defective lymphoid cells". J Biol Chem 279 (18): 18688–93. doi:10.1074/jbc.M401205200. PMID 14976195.
^ ^a ^b "Entrez Gene: TMEM23 transmembrane protein 23". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=259230.

Albi E, Magni MV (1999). "Sphingomyelin synthase in rat liver nuclear membrane and chromatin.". FEBS Lett. 460 (2): 369–72. doi:10.1016/S0014-5793(99)01378-2. PMID 10544266.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
Huitema K, van den Dikkenberg J, Brouwers JF, Holthuis JC (2004). "Identification of a family of animal sphingomyelin synthases.". EMBO J. 23 (1): 33–44. doi:10.1038/sj.emboj.7600034. PMC 1271672. PMID 14685263. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1271672.
Vladychenskaya IP, Dergunova LV, Dmitrieva VG, Limborska SA (2004). "Human gene MOB: structure specification and aspects of transcriptional activity.". Gene 338 (2): 257–65. doi:10.1016/j.gene.2004.06.003. PMID 15315829.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
Dong J, Liu J, Lou B, et al. (2006). "Adenovirus-mediated overexpression of sphingomyelin synthases 1 and 2 increases the atherogenic potential in mice.". J. Lipid Res. 47 (6): 1307–14. doi:10.1194/jlr.M600040-JLR200. PMID 16508036.
Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.". Cell 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
Tafesse FG, Huitema K, Hermansson M, et al. (2007). "Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells.". J. Biol. Chem. 282 (24): 17537–47. doi:10.1074/jbc.M702423200. PMID 17449912.
Separovic D, Hanada K, Maitah MY, et al. (2007). "Sphingomyelin synthase 1 suppresses ceramide production and apoptosis post-photodamage.". Biochem. Biophys. Res. Commun. 358 (1): 196–202. doi:10.1016/j.bbrc.2007.04.095. PMC 2701614. PMID 17467659. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2701614.
Li Z, Hailemariam TK, Zhou H, et al. (2007). "Inhibition of sphingomyelin synthase (SMS) affects intracellular sphingomyelin accumulation and plasma membrane lipid organization.". Biochim. Biophys. Acta 1771 (9): 1186–94. doi:10.1016/j.bbalip.2007.05.007. PMC 2712822. PMID 17616479. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2712822.

PDB gallery

2d8c: Solution structure of the sam-domain of mouse phosphatidyl ceramidecholinephosphotransferase 1

SGMS1

References

Further reading