• Gene id: 6611

Gene Summary

• Gene Symbol: SMS   Gene   UCSC   Ensembl
• Aliases: MRSR, SPMSY, SRS, SpS
• Gene name: spermine synthase
• Alternate names: spermine synthase, spermidine aminopropyltransferase,
• Gene location: Xp22.11 (21940572: 21994836)     Exons: 14     NC_000023.11
• Gene summary(Entrez): This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked intellect
• OMIM: 300105

Protein Summary

• Protein general information: P52788  
  • Name: Spermine synthase (SPMSY) (EC 2.5.1.22) (Spermidine aminopropyltransferase)
  • Length: 366  
  • Mass: 41268
• Sequence:

  MAAARHSTLDFMLGAKADGETILKGLQSIFQEQGMAESVHTWQDHGYLATYTNKNGSFANLRIYPHGLVLLDLQS
  YDGDAQGKEEIDSILNKVEERMKELSQDSTGRVKRLPPIVRGGAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNI
  KILHSKQFGNILILSGDVNLAESDLAYTRAIMGSGKEDYTGKDVLILGGGDGGILCEIVKLKPKMVTMVEIDQMV
  IDGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVINDLTAVPISTSPEEDSTWEFLRLILD
  LSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLELWVFYTVWKKAKP

• Structural information:
  • Protein Domains: (122..36-)
    (/note="PABS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00354"-)
  • Interpro: IPR030374  IPR030373  IPR029063  IPR035246  IPR037163   IPR015576  IPR040900  
  • Prosite: PS01330 PS51006
  • PDB: 3C6K 3C6M
  • PDBsum: 3C6K 3C6M
  • STRING: ENSP00000385746
• Other Databases: GeneCards:  SMS  Malacards:  SMS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006597	spermine biosynthetic process	IBA	biological process
GO:0016768	spermine synthase activity	IBA	molecular function
GO:0006597	spermine biosynthetic process	IEA	biological process
GO:0016768	spermine synthase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006596	polyamine biosynthetic process	IEA	biological process
GO:0006555	methionine metabolic process	TAS	biological process
GO:0006595	polyamine metabolic process	TAS	biological process
GO:0016768	spermine synthase activity	IEA	molecular function
GO:0016768	spermine synthase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006595	polyamine metabolic process	TAS	biological process
GO:0008215	spermine metabolic process	IEA	biological process
GO:0016768	spermine synthase activity	IEA	molecular function
GO:0006597	spermine biosynthetic process	IEA	biological process
GO:0006597	spermine biosynthetic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00330	Arginine and proline metabolism
hsa00270	Cysteine and methionine metabolism
hsa00480	Glutathione metabolism

Diseases

Associated diseases	References
Snyder-Robinson syndrome	KEGG:H00597
Snyder-Robinson syndrome	KEGG:H00597
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)