About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    34 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:32100127-32367114 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 26.68 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6049 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 Chr19:32100127-32367285 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SGMS1, sphingomyelin synthase 1
  • Synonyms
    hmob33, MOB, MOB1, SMS1, TMEM23
  • Links
    NCBI Gene ID: 259230
    neXtProt AC: NX_Q86VZ5
    UniProt: Q86VZ5

  • Chr Location
    10q11.23; chr10:50305586-50625184 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    46 phenotypes from 4 alleles in 4 genetic backgrounds
    28 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.
Homozygotes for a null allele show decreased body weight and insulin secretion, pancreatic beta-cell mitochondrial dysfunction, and premature death. Homozygotes for another null allele show altered spermatogenesis, testicular lipid profiles and blood-testis barrier function, and male infertility.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    10
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
    850
  • Tissues
    100
  • cDNA Data
    68
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040451 Ensembl Gene Model | MGI Sequence Detail 266988 C57BL/6J ±  kb
    transcript ENSMUST00000099514 Ensembl | MGI Sequence Detail 3665 Not Applicable  
    polypeptide ENSMUSP00000097114 Ensembl | MGI Sequence Detail 419 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 69
      cDNA 68
      Primer pair 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2147604, MGI:2147793
    References
    more
    • Summaries
      All 69
      Developmental Gene Expression 6
      Gene Ontology 10
      Phenotypes 28
    • 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:358542 Chen J, et al., A new mutation of Sgms1 causes gradual hearing loss associated with a reduced endocochlear potential. Hear Res. 2024 Sep 15;451:109091
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory