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Sgms1 Gene Detail
Summary
  • Symbol
    Sgms1
  • Name
    sphingomyelin synthase 1
  • Synonyms
    9530058O11Rik, SMS1, SMS1alpha1, SMS1alpha2, SMS1beta, SMS1gamma, Tmem23
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444110
    NCBI Gene: 208449
  • Gene Overview
    MyGene.info: SGMS1
  • Alliance
  • Transcription Start Sites
    20 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:32122727-32389712 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 26.68 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    992 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444110
protein coding gene Chr19:32122727-32389714 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025039
protein coding gene Chr19:30749704-31024265 (-)
A/J MGP_AJ_G0025016
protein coding gene Chr19:29207363-29475515 (-)
AKR/J MGP_AKRJ_G0024984
protein coding gene Chr19:30235348-30502638 (-)
BALB/cJ MGP_BALBcJ_G0025015
protein coding gene Chr19:29262627-29533070 (-)
C3H/HeJ MGP_C3HHeJ_G0024771
protein coding gene Chr19:30224252-30497015 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025456
protein coding gene Chr19:31595291-31878461 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022875
protein coding gene Chr19:29119447-29383736 (-)
CAST/EiJ MGP_CASTEiJ_G0024242
protein coding gene Chr19:30130034-30403618 (-)
CBA/J MGP_CBAJ_G0024749
protein coding gene Chr19:33063617-33361480 (-)
DBA/2J MGP_DBA2J_G0024881
protein coding gene Chr19:29139016-29400064 (-)
FVB/NJ MGP_FVBNJ_G0024843
protein coding gene Chr19:28961971-29226272 (-)
LP/J MGP_LPJ_G0024966
protein coding gene Chr19:30753551-31029028 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024870
protein coding gene Chr19:32959084-33236753 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025511
protein coding gene Chr19:30278110-30553838 (-)
PWK/PhJ MGP_PWKPhJ_G0023990
protein coding gene Chr19:28830934-29097815 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023794
protein coding gene Chr19:29616288-29887393 (-)
WSB/EiJ MGP_WSBEiJ_G0024308
protein coding gene Chr19:30317790-30590520 (-)



Homology
more
  • Human Ortholog
    SGMS1, sphingomyelin synthase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SGMS1, sphingomyelin synthase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    hmob33, MOB, MOB1, SMS1, TMEM23
  • Links
    NCBI Gene ID: 259230
    neXtProt AC: NX_Q86VZ5
    UniProt: Q86VZ5

  • Chr Location
    10q11.23; chr10:50305585-50623977 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 27040
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: SGMS1
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    36 phenotypes from 3 alleles in 3 genetic backgrounds
    18 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit premature death, impaired insulin tolerance, increased insulin sensitivity, decreased insulin secretion, and abnormal pancreatic islet cell mitochondria morphology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 208449 NCBI Gene Model | MGI Sequence Detail 266986 C57BL/6J ±  kb
    transcript NM_001168525 RefSeq | MGI Sequence Detail 4056 C57BL/6  
    polypeptide Q8VCQ6 UniProt | EBI | MGI Sequence Detail 419 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 68
      cDNA 68

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2147604, MGI:2147793
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 5
      Gene Ontology 9
      Phenotypes 18
    • Earliest
      J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
    • Latest
      J:255485 Li S, et al., Transcription Factor CTIP1/ BCL11A Regulates Epidermal Differentiation and Lipid Metabolism During Skin Development. Sci Rep. 2017 Oct 18;7(1):13427

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory