SGMS1

SGMS1
Identifiers
Aliases	SGMS1, MOB, MOB1, SMS1, TMEM23, hmob33, sphingomyelin synthase 1
External IDs	OMIM: 611573; MGI: 2444110; HomoloGene: 27040; GeneCards: SGMS1; OMA:SGMS1 - orthologs
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2D8C
Enzyme activity
Gene location (Human)
Chr.	Chromosome 10 (human)
End	50,625,163 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	32,389,714 bp
RNA expression pattern
	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
	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
	259230
	208449
	ENSG00000198964
	ENSMUSG00000040451
	Q86VZ5
	Q8VCQ6
	NM_147156
	NM_001168525; NM_001168526; NM_144792; NM_001362423
	NP_671512
	NP_001161997; NP_001161998; NP_659041; NP_001349352
	Wikidata
View/Edit Human	View/Edit Mouse

Phosphatidylcholine:ceramide cholinephosphotransferase 1 is an enzyme that in humans is encoded by the SGMS1 gene.⁵⁶⁷

Function

The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain.⁷

References

GRCh38: Ensembl release 89: ENSG00000198964 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000040451 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000198964 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid11841947-5] 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.

[pmid14976195-6] 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.

[entrez-7] "Entrez Gene: TMEM23 transmembrane protein 23".

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