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SGMS1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2D8C
Identifiers
Aliases	SGMS1, MOB, MOB1, SMS1, TMEM23, hmob33, sphingomyelin synthase 1
External IDs	OMIM: 611573; MGI: 2444110; HomoloGene: 27040; GeneCards: SGMS1; OMA:SGMS1 - orthologs
Gene location (Human) Chr. Chromosome 10 (human) Band 10q11.23 Start 50,305,586 bp End 50,625,163 bp
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19|19 C1 Start 32,122,727 bp End 32,389,714 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon palpebral conjunctiva retinal pigment epithelium Epithelium of choroid plexus germinal epithelium corpus callosum hair follicle skin of thigh C1 segment skin of hip Top expressed in spermatid seminiferous tubule retinal pigment epithelium Epithelium of choroid plexus sciatic nerve left lung lobe interventricular septum vestibular membrane of cochlear duct right lung lobe spermatocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function kinase activity transferase activity ceramide cholinephosphotransferase activity sphingomyelin synthase activity ceramide phosphoethanolamine synthase activity Cellular component integral component of membrane integral component of Golgi membrane Golgi trans cisterna Golgi membrane plasma membrane Golgi apparatus endoplasmic reticulum nucleus membrane integral component of plasma membrane integral component of endoplasmic reticulum membrane Biological process lipid metabolism sphingomyelin biosynthetic process sphingolipid biosynthetic process phosphorylation apoptotic process sphingolipid metabolic process ceramide biosynthetic process regulation of intrinsic apoptotic signaling pathway inflammatory response positive regulation of gene expression cellular response to lipopolysaccharide cellular response to tumor necrosis factor Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 259230 208449 Ensembl ENSG00000198964 ENSMUSG00000040451 UniProt Q86VZ5 Q8VCQ6 RefSeq (mRNA) NM_147156 NM_001168525 NM_001168526 NM_144792 NM_001362423 RefSeq (protein) NP_671512 NP_001161997 NP_001161998 NP_659041 NP_001349352 Location (UCSC) Chr 10: 50.31 – 50.63 Mb Chr 19: 32.12 – 32.39 Mb PubMed search
Wikidata
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Phosphatidylcholine:ceramide cholinephosphotransferase 1 is an enzyme that in humans is encoded by the SGMS1 gene.

Function

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

References

1. ^ GRCh38: Ensembl release 89: ENSG00000198964 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000040451 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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". Biomolecular Engineering. 18 (6): 263–8. doi:10.1016/S1389-0344(01)00110-1. PMID 11841947.
6. 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". The Journal of Biological Chemistry. 279 (18): 18688–93. doi:10.1074/jbc.M401205200. PMID 14976195.
7. ^ "Entrez Gene: TMEM23 transmembrane protein 23".

Further reading

• Albi E, Magni MV (Oct 1999). "Sphingomyelin synthase in rat liver nuclear membrane and chromatin". FEBS Letters. 460 (2): 369–72. doi:10.1016/S0014-5793(99)01378-2. PMID 10544266. S2CID 3025859.
• Huitema K, van den Dikkenberg J, Brouwers JF, Holthuis JC (Jan 2004). "Identification of a family of animal sphingomyelin synthases". The EMBO Journal. 23 (1): 33–44. doi:10.1038/sj.emboj.7600034. PMC 1271672. PMID 14685263.
• Vladychenskaya IP, Dergunova LV, Dmitrieva VG, Limborska SA (Sep 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.
• Dong J, Liu J, Lou B, Li Z, Ye X, Wu M, Jiang XC (Jun 2006). "Adenovirus-mediated overexpression of sphingomyelin synthases 1 and 2 increases the atherogenic potential in mice". Journal of Lipid Research. 47 (6): 1307–14. doi:10.1194/jlr.M600040-JLR200. PMID 16508036.
• Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (May 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. S2CID 13709685.
• Tafesse FG, Huitema K, Hermansson M, van der Poel S, van den Dikkenberg J, Uphoff A, Somerharju P, Holthuis JC (Jun 2007). "Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells". The Journal of Biological Chemistry. 282 (24): 17537–47. doi:10.1074/jbc.M702423200. PMID 17449912.
• Separovic D, Hanada K, Maitah MY, Nagy B, Hang I, Tainsky MA, Kraniak JM, Bielawski J (Jun 2007). "Sphingomyelin synthase 1 suppresses ceramide production and apoptosis post-photodamage". Biochemical and Biophysical Research Communications. 358 (1): 196–202. doi:10.1016/j.bbrc.2007.04.095. PMC 2701614. PMID 17467659.
• Li Z, Hailemariam TK, Zhou H, Li Y, Duckworth DC, Peake DA, Zhang Y, Kuo MS, Cao G, Jiang XC (Sep 2007). "Inhibition of sphingomyelin synthase (SMS) affects intracellular sphingomyelin accumulation and plasma membrane lipid organization". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1771 (9): 1186–94. doi:10.1016/j.bbalip.2007.05.007. PMC 2712822. PMID 17616479.

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