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Sms Gene Detail
Summary
  • Symbol
    Sms
  • Name
    spermine synthase
  • Synonyms
    SpmST
  • Feature Type
    protein coding gene
  • IDs
    MGI:109490
    NCBI Gene: 20603
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:156226851-156275283 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 72.48 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1243 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109490
 protein coding gene ChrX:156226847-156275283 (-)
129S1/SvImJ MGP_129S1SvImJ_G0036217
 protein coding gene ChrX:155332159-155384386 (-)
A/J MGP_AJ_G0036187
 protein coding gene ChrX:154650937-154700420 (-)
AKR/J MGP_AKRJ_G0036115
 protein coding gene ChrX:159518367-159566633 (-)
BALB/cJ MGP_BALBcJ_G0036180
 protein coding gene ChrX:152706799-152758336 (-)
C3H/HeJ MGP_C3HHeJ_G0035886
 protein coding gene ChrX:155689179-155743460 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036702
 protein coding gene ChrX:159912974-159961858 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033523
 protein coding gene ChrX:146006382-146056665 (-)
CAST/EiJ MGP_CASTEiJ_G0035174
 protein coding gene ChrX:134787055-134836051 (-)
CBA/J MGP_CBAJ_G0035861
 protein coding gene ChrX:164479870-164535452 (-)
DBA/2J MGP_DBA2J_G0036027
 protein coding gene ChrX:153627818-153676900 (-)
FVB/NJ MGP_FVBNJ_G0035958
 protein coding gene ChrX:152716258-152765173 (-)
LP/J MGP_LPJ_G0036112
 protein coding gene ChrX:156494141-156550220 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035990
 protein coding gene ChrX:173057951-173108871 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036743
 protein coding gene ChrX:154882582-154934732 (-)
PWK/PhJ MGP_PWKPhJ_G0034872
 protein coding gene ChrX:131744623-131795632 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034693
 protein coding gene ChrX:135258252-135307918 (-)
WSB/EiJ MGP_WSBEiJ_G0035309
 protein coding gene ChrX:152879122-152930157 (-)



Homology
more
  • Human Ortholog
    SMS, spermine synthase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMS, spermine synthase
  • Synonyms
    MRSR, MRXSSR, SPMSY, SpS, SRS
  • Links
    NCBI Gene ID: 6611
    neXtProt AC: NX_P52788
    UniProt: P52788

  • Chr Location
    Xp22.11; chrX:21940709-21994837 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SMS associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 1 allele in 3 genetic backgrounds
    41 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Male mice hemizygous for a knock-out allele exhibit muscle weakness, decreased lean body mass and bone mineral density, lumbar lordosis, postnatal growth retardation, and male infertility.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    7
  • GO References
    4
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    935
  • Tissues
    129
  • cDNA Data
    105
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000071708 Ensembl Gene Model | MGI Sequence Detail 48433 C57BL/6J ±  kb
    transcript ENSMUST00000112529 Ensembl | MGI Sequence Detail 3717 Not Applicable  
    polypeptide ENSMUSP00000108148 Ensembl | MGI Sequence Detail 366 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000015301 spermine synthase
      (term hierarchy)
    • EC
      2.5.1.22
    • InterPro Domains
      IPR030374 Polyamine biosynthesis domain
      IPR030373 Polyamine biosynthesis domain, conserved site
      IPR029063 S-adenosyl-L-methionine-dependent methyltransferase superfamily
      IPR035246 Spermidine synthase, tetramerisation domain
      IPR037163 Spermidine synthase, tetramerisation domain superfamily
      IPR015576 Spermine synthase, animal
      IPR040900 Spermine synthase, N-terminal
    • GlyGen
      P97355 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 114
      Genomic 1
      cDNA 106
      Primer pair 7

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-39489, MGI:2147883
    References
    more
    • Summaries
      All 70
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 4
      Phenotypes 41
    • Earliest
      J:28887 Carter TC, et al., The genetic sensitivity to X-rays of mouse foetal gonads. Genet Res. 1960;1(3):351-5
    • Latest
      J:348793 Akinyele O, et al., Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder-Robinson syndrome. Dis Model Mech. 2024 Jun 1;17(6)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory