SMS (gene)

Spermine synthase is an enzyme that in humans is encoded by the SMS gene. The protein encoded by this gene belongs to the spermidine/spermine synthases family. This gene encodes a ubiquitous enzyme of polyamine metabolism.

SMS
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3C6K, 3C6M
Identifiers
Aliases	SMS, MRSR, SPMSY, SRS, SpS, spermine synthase, MRXSSR
External IDs	OMIM: 300105 MGI: 3705601 HomoloGene: 88709 GeneCards: SMS
Gene location (Human) Chr. X chromosome (human) Band Xp22.11 Start 21,940,709 bp End 21,994,837 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in placenta ganglionic eminence left adrenal gland kidney endometrium islet of Langerhans ovary dorsolateral prefrontal cortex superior frontal gyrus prostate n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity spermine synthase activity Cellular component cytosol extracellular exosome Biological process spermine biosynthetic process spermine metabolic process polyamine biosynthetic process methionine metabolic process polyamine metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6611 671878 Ensembl ENSG00000102172 n/a UniProt P52788 P97355 RefSeq (mRNA) NM_001258423 NM_004595 XM_001473434 RefSeq (protein) NP_001245352 NP_004586 NP_033240 NP_001346114 Location (UCSC) Chr X: 21.94 – 21.99 Mb n/a PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Further reading

• Snyder RD; Robinson A (1969). "Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family". Clinical Pediatrics. 8 (11): 669–74. doi:10.1177/000992286900801114. PMID 5823961. S2CID 32198336.
• Arena JF, Schwartz C, Ouzts L, et al. (1996). "X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12". Am. J. Med. Genet. 64 (1): 50–8. doi:10.1002/(SICI)1096-8628(19960712)64:1<50::AID-AJMG7>3.0.CO;2-V. PMID 8826448.
• Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
• 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
• Cason AL, Ikeguchi Y, Skinner C, et al. (2004). "X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome". Eur. J. Hum. Genet. 11 (12): 937–44. doi:10.1038/sj.ejhg.5201072. PMID 14508504.
• 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.
• Rush J, Moritz A, Lee KA, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101. doi:10.1038/nbt1046. PMID 15592455. S2CID 7200157.
• Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. Bibcode:2005Natur.434..325R. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.