KEGG   Homo sapiens (human): 6611Help
Entry
6611              CDS       T01001                                 

Gene name
SMS, MRSR, SPMSY, SRS, SpS
Definition
(RefSeq) spermine synthase
  KO
K00802  
spermine synthase [EC:2.5.1.22]
Organism
hsa  Homo sapiens (human)
Pathway
Cysteine and methionine metabolism
Arginine and proline metabolism
beta-Alanine metabolism
Glutathione metabolism
Metabolic pathways
Disease
H00597  
Snyder-Robinson syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Amino acid metabolism
   00270 Cysteine and methionine metabolism
    6611 (SMS)
   00330 Arginine and proline metabolism
    6611 (SMS)
  Metabolism of other amino acids
   00410 beta-Alanine metabolism
    6611 (SMS)
   00480 Glutathione metabolism
    6611 (SMS)
Enzymes [BR:hsa01000]
 2. Transferases
  2.5  Transferring alkyl or aryl groups, other than methyl groups
   2.5.1  Transferring alkyl or aryl groups, other than methyl groups (only sub-subclass identified to date)
    2.5.1.22  spermine synthase
     6611 (SMS)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
P52788(Tchem)
UniProt: 
Structure
PDB: 

Jmol
Position
Xp22.11
AA seq 366 aa AA seqDB search
MAAARHSTLDFMLGAKADGETILKGLQSIFQEQGMAESVHTWQDHGYLATYTNKNGSFAN
LRIYPHGLVLLDLQSYDGDAQGKEEIDSILNKVEERMKELSQDSTGRVKRLPPIVRGGAI
DRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNILILSGDVNLAESDLAYTRA
IMGSGKEDYTGKDVLILGGGDGGILCEIVKLKPKMVTMVEIDQMVIDGCKKYMRKTCGDV
LDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVINDLTAVPISTSPEEDSTWEFLRLILD
LSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLELWVFYTV
WKKAKP
NT seq 1101 nt NT seq  +upstreamnt  +downstreamnt
atggcagcagcacggcacagcacgctcgacttcatgctcggcgccaaagctgatggtgag
accattctaaaaggcctccagtccattttccaggagcaggggatggcggagtcggtgcac
acctggcaggaccatggctatttagcaacctacacaaacaagaacggcagctttgccaat
ttgagaatttacccacatggattggtgttgctggaccttcagagttatgatggtgatgcg
caaggcaaagaagagatcgacagtattttgaacaaagtagaggaaagaatgaaagaattg
agtcaggacagtactgggcgggtgaaacgattaccacccatagtgcgaggaggagccatc
gacagatactggcccaccgccgacgggcgcctggttgaatatgacatagatgaagtggta
tatgacgaagattcaccttatcaaaatataaaaattctacactcgaagcagtttggaaat
attctcatccttagtggggatgttaatttggcagagagtgatttggcatatacccgggcc
atcatgggcagtggcaaagaagattacactggcaaagatgtactcattctgggaggtgga
gacggaggcatattgtgtgaaatagtcaaactaaaaccaaagatggtcactatggtagag
attgaccaaatggtgattgatgggtgtaagaaatacatgcgaaaaacgtgtggcgatgtc
ttagacaatcttaaaggagactgctatcaggttctaatagaagactgtatcccggtactg
aagaggtacgccaaagaagggagagaatttgattatgtgattaatgatttgacagctgtt
ccaatctccacgtctccagaagaagattccacatgggagtttctcagactgattcttgac
ctctcaatgaaagtgttgaaacaggatgggaaatattttacacaggggaactgtgtcaat
ctgacagaagcactgtcgctctatgaagaacagctggggcgcctgtattgtcctgtggaa
ttttcaaaggagatcgtctgtgtcccttcatacttggaattgtgggtattttacactgtt
tggaagaaagctaaaccctga

KEGG   DISEASE: Snyder-Robinson syndromeHelp
Entry
H00597                      Disease                                

Name
Snyder-Robinson syndrome
Description
Snyder-Robinson syndrome (SRS) is an X-linked recessive disease which causes mild-to-moderate mental retardation, osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder. This syndrome is caused by missense mutations in the spermine synthase gene.
Category
Congenital disorder of development; Mental retardation
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Others
   H00597  Snyder-Robinson syndrome
BRITE hierarchy
Pathway
Cysteine and methionine metabolism
Arginine and proline metabolism
beta-Alanine metabolism
Glutathione metabolism
Gene
SMS [HSA:6611] [KO:K00802]
Other DBs
MeSH: 
OMIM: 
Reference
  Authors
Becerra-Solano LE, Butler J, Castaneda-Cisneros G, McCloskey DE, Wang X, Pegg AE, Schwartz CE, Sanchez-Corona J, Garcia-Ortiz JE
  Title
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
  Journal
Am J Med Genet A 149A:328-35 (2009)
DOI:10.1002/ajmg.a.32641
Reference
  Authors
Zhang Z, Teng S, Wang L, Schwartz CE, Alexov E
  Title
Computational analysis of missense mutations causing Snyder-Robinson syndrome.
  Journal
Hum Mutat 31:1043-9 (2010)
DOI:10.1002/humu.21310
Reference
  Authors
Pegg AE, Michael AJ
  Title
Spermine synthase.
  Journal
Cell Mol Life Sci 67:113-21 (2010)
DOI:10.1007/s00018-009-0165-5
Reference
  Authors
Ropers HH, Hamel BC
  Title
X-linked mental retardation.
  Journal
Nat Rev Genet 6:46-57 (2005)
DOI:10.1038/nrg1501

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