About   Help   FAQ
Slc5a3 Gene Detail
Summary
  • Symbol
    Slc5a3
  • Name
    solute carrier family 5 (inositol transporters), member 3
  • Synonyms
    Smit1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1858226
    NCBI Gene: 53881
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:91855210-91884361 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 53.44 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    762 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1858226
 protein coding gene Chr16:91855210-91884361 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023052
 protein coding gene Chr16:93122167-93151313 (+)
A/J MGP_AJ_G0023020
 protein coding gene Chr16:88759677-88788864 (+)
AKR/J MGP_AKRJ_G0022990
 protein coding gene Chr16:91446223-91475377 (+)
BALB/cJ MGP_BALBcJ_G0023022
 protein coding gene Chr16:89291315-89320455 (+)
C3H/HeJ MGP_C3HHeJ_G0022783
 protein coding gene Chr16:92010366-92039491 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023469
 protein coding gene Chr16:96104678-96133826 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020971
 protein coding gene Chr16:86445644-86474860 (+)
CAST/EiJ MGP_CASTEiJ_G0022302
 protein coding gene Chr16:92587776-92616846 (+)
CBA/J MGP_CBAJ_G0022752
 protein coding gene Chr16:100222952-100254885 (+)
DBA/2J MGP_DBA2J_G0022886
 protein coding gene Chr16:88667798-88696942 (+)
FVB/NJ MGP_FVBNJ_G0022860
 protein coding gene Chr16:87792354-87821498 (+)
LP/J MGP_LPJ_G0022956
 protein coding gene Chr16:92807049-92837386 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022881
 protein coding gene Chr16:104749957-104780465 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023487
 protein coding gene Chr16:91969955-91999094 (+)
PWK/PhJ MGP_PWKPhJ_G0022047
 protein coding gene Chr16:88850068-88876235 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021877
 protein coding gene Chr16:91537790-91566842 (+)
WSB/EiJ MGP_WSBEiJ_G0022354
 protein coding gene Chr16:92212319-92241478 (+)



Homology
more
  • Human Ortholog
    SLC5A3, solute carrier family 5 member 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC5A3, solute carrier family 5 member 3
  • Synonyms
    BCW2, SMIT, SMIT1, SMIT2
  • Links
    NCBI Gene ID: 6526
    UniProt: P53794

  • Chr Location
    21q22.11; chr21:34073578-34106260 (+)  GRCh38
Human Diseases
less
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 2 alleles in 2 genetic backgrounds
    83 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.
Homozygous mutation of this gene results in lethality shortly after birth due to respiratory failure and abnormal development of peripheral nerves.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • 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
    1020
  • Tissues
    210
  • cDNA Data
    12
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 53881 NCBI Gene Model | MGI Sequence Detail 29152 C57BL/6J ±  kb
    transcript NM_017391 RefSeq | MGI Sequence Detail 10918 C57BL/6  
    polypeptide Q9JKZ2 UniProt | EBI | MGI Sequence Detail 718 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      Genomic 1
      cDNA 12
      Primer pair 3
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2683639, MGI:3035295
    References
    more
    • Summaries
      All 114
      Developmental Gene Expression 8
      Diseases 4
      Gene Ontology 10
      Phenotypes 83
    • Earliest
      J:42265 Huang TT, et al., Superoxide-mediated cytotoxicity in superoxide dismutase-deficient fetal fibroblasts. Arch Biochem Biophys. 1997 Aug 15;344(2):424-32
    • Latest
      J:335294 Redhead Y, et al., Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes. Development. 2023 Apr 15;150(8):dev201077
    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