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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
Location & Maps
more
  • Sequence Map
    Chr19:32122727-32389714 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      266988 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 26.68 cM
  • Mapping Data
    2 experiments
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
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  • 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
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.
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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000033408 VEGA Gene Model | MGI Sequence Detail 266988 C57BL/6J ±  kb
    transcript OTTMUST00000083873 VEGA | MGI Sequence Detail 3665 Not Applicable  
    polypeptide OTTMUSP00000045124 VEGA | MGI Sequence Detail 419 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      992 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 67
      cDNA 67

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2147604, MGI:2147793
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 5
      Gene Ontology 8
      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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory