KEGG   Homo sapiens (human): 6611
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
hsa00270  Cysteine and methionine metabolism
hsa00330  Arginine and proline metabolism
hsa00480  Glutathione metabolism
hsa01100  Metabolic pathways
Disease
H00597  Snyder-Robinson syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00270 Cysteine and methionine metabolism
    6611 (SMS)
   00330 Arginine and proline metabolism
    6611 (SMS)
  09106 Metabolism of other amino acids
   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)
SSDB
Motif
Pfam: Spermine_synth SpmSyn_N Spermine_synt_N DUF43 Citrate_bind MTS
Other DBs
NCBI-GeneID: 6611
NCBI-ProteinID: NP_004586
OMIM: 300105
HGNC: 11123
Ensembl: ENSG00000102172
Vega: OTTHUMG00000021239
Pharos: P52788(Tchem)
UniProt: P52788
Structure
PDB: 
3C6K 3C6M

Position
Xp22.11
AA seq 366 aa
MAAARHSTLDFMLGAKADGETILKGLQSIFQEQGMAESVHTWQDHGYLATYTNKNGSFAN
LRIYPHGLVLLDLQSYDGDAQGKEEIDSILNKVEERMKELSQDSTGRVKRLPPIVRGGAI
DRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNILILSGDVNLAESDLAYTRA
IMGSGKEDYTGKDVLILGGGDGGILCEIVKLKPKMVTMVEIDQMVIDGCKKYMRKTCGDV
LDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVINDLTAVPISTSPEEDSTWEFLRLILD
LSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLELWVFYTV
WKKAKP
NT seq 1101 nt   +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 syndrome
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 malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00597  Snyder-Robinson syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H00597  Snyder-Robinson syndrome
Pathway
hsa00270  Cysteine and methionine metabolism
hsa00330  Arginine and proline metabolism
hsa00410  beta-Alanine metabolism
hsa00480  Glutathione metabolism
Gene
SMS [HSA:6611] [KO:K00802]
Other DBs
ICD-11: LD90.Y
ICD-10: Q87.8
MeSH: C536678
OMIM: 309583
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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