SGMS1

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SGMS1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SGMS1, MOB, MOB1, SMS1, TMEM23, hmob33, sphingomyelin synthase 1
External IDs MGI: 2444110 HomoloGene: 27040 GeneCards: SGMS1
RNA expression pattern
PBB GE TMEM23 212989 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_147156

NM_001168525
NM_001168526
NM_144792

RefSeq (protein)

NP_671512

Location (UCSC) Chr 10: 50.31 – 50.63 Mb Chr 19: 32.12 – 32.39 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Phosphatidylcholine:ceramide cholinephosphotransferase 1 is an enzyme that in humans is encoded by the SGMS1 gene.[3][4][5]

Function[edit]

The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain.[5]

Model organisms[edit]

Model organisms have been used in the study of SGMS1 function. A conditional knockout mouse line called Sgms1tm1a(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute.[6] Male and female animals underwent a standardized phenotypic screen[7] to determine the effects of deletion.[8][9][10][11] Additional screens performed: - In-depth immunological phenotyping[12]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: TMEM23 transmembrane protein 23". 
  6. ^ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  7. ^ a b "International Mouse Phenotyping Consortium". 
  8. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410Freely accessible. PMID 21677750. 
  9. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  10. ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  11. ^ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207Freely accessible. PMID 23870131. 
  12. ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium". 

Further reading[edit]