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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
  • Gene Overview
    MyGene.info: SLC5A3
Location & Maps
more
  • Sequence Map
    Chr16:92058322-92087473 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      29152 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 53.44 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SLC5A3, solute carrier family 5 member 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC5A3, solute carrier family 5 member 3
    Orthology source: HomoloGene
  • Synonyms
    BCW2, SMIT, SMIT1, SMIT2
  • Links
    NCBI Gene ID: 6526

  • Chr Location
    21q22.12; chr21:34073523-34106262 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 2 alleles in 2 genetic backgrounds
    14 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.
  • All Mutations and Alleles
    9
  • Targeted
    9
  • Genomic Mutations
    6 involving Slc5a3
  • Incidental Mutations
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
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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
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025870 VEGA Gene Model | MGI Sequence Detail 29152 C57BL/6J ±  kb
transcript OTTMUST00000063747 VEGA | MGI Sequence Detail 10913 Not Applicable  
polypeptide OTTMUSP00000031568 VEGA | MGI Sequence Detail 718 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    78 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000015170 sodium/myo-inositol cotransporter
  • InterPro Domains
    IPR001734 Sodium/solute symporter
    IPR018212 Sodium/solute symporter, conserved site
Molecular
Reagents
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  • All nucleic 16
    Genomic 1
    cDNA 12
    Primer pair 2
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGI:2683639, MGI:3035295
References
more
  • Summaries
    All 34
    Developmental Gene Expression 7
    Gene Ontology 7
    Phenotypes 14
  • Earliest
    J:61525 McVeigh KE, et al., Murine chromosome 16 telomeric region, homologous with human chromosome 21q22, contains the osmoregulatory Na(+)/myo-inositol cotransporter (SLC5A3) gene. Cytogenet Cell Genet. 2000;88(1-2):153-8
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory