SMS (spermine synthase)

2013-05-01  

Identity

HGNC
SMS
LOCATION
Xp22.11
LOCUSID
6611
ALIAS
MRSR,SPMSY,SRS,SpS

Other Information

Locus ID:

NCBI: 6611
MIM: 300105
HGNC: 11123
Ensembl: ENSG00000102172

Variants:

dbSNP: 6611
ClinVar: 6611
TCGA: ENSG00000102172
COSMIC: SMS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102172ENST00000379404P52788
ENSG00000102172ENST00000404933P52788
ENSG00000102172ENST00000457085H7C2R7

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Arginine and proline metabolismKEGGko00330
beta-Alanine metabolismKEGGko00410
Glutathione metabolismKEGGko00480
Arginine and proline metabolismKEGGhsa00330
beta-Alanine metabolismKEGGhsa00410
Glutathione metabolismKEGGhsa00480
Cysteine and methionine metabolismKEGGko00270
Cysteine and methionine metabolismKEGGhsa00270
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Metabolism of polyaminesREACTOMER-HSA-351202

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
185506992008New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.27
216473662011In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase.26
192061782009A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.24
236964532013A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.16
211520902010Association of polyaminergic loci with anxiety, mood disorders, and attempted suicide.12
213188912011Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).12
192777332009The impact of spermine synthase (SMS) mutations on brain morphology.10
200598042010Genetic and epigenetic influences on expression of spermine synthase and spermine oxidase in suicide completers.9
234686112013Enhancing human spermine synthase activity by engineered mutations.8
234085112013A rational free energy-based approach to understanding and targeting disease-causing missense mutations.6

Citation

Dessen P

SMS (spermine synthase)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

Online version: http://atlasgeneticsoncology.org/gene/53256/sms