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Aliases for SLC5A3 Gene

Aliases for SLC5A3 Gene

  • Solute Carrier Family 5 Member 3 2 3 4 5
  • Solute Carrier Family 5 (Sodium/Myo-Inositol Cotransporter), Member 3 2 3
  • Sodium/Myo-Inositol Transporter 1 3 4
  • Na(+)/Myo-Inositol Cotransporter 3 4
  • SMIT1 3 4
  • Solute Carrier Family 5 (Inositol Transporters), Member 3 3
  • Solute Carrier Family 5 (Inositol Transporter), Member 3 2
  • Sodium/Myo-Inositol Cotransporter 1 3
  • Sodium/Myo-Inositol Cotransporter 3
  • SMIT2 3
  • BCW2 3
  • SMIT 3

External Ids for SLC5A3 Gene

Previous GeneCards Identifiers for SLC5A3 Gene

  • GC21P032044
  • GC21P034387
  • GC21P034389
  • GC21P035447
  • GC21P035449
  • GC21P020945
  • GC21P035451
  • GC21P035453
  • GC21P035455
  • GC21P035457
  • GC21P035459
  • GC21P035461
  • GC21P034075
  • GC21P034077
  • GC21P034080
  • GC21P034083
  • GC21P034086
  • GC21P034088

Summaries for SLC5A3 Gene

GeneCards Summary for SLC5A3 Gene

SLC5A3 (Solute Carrier Family 5 Member 3) is a Protein Coding gene. Among its related pathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and myo-inositol:sodium symporter activity. An important paralog of this gene is SLC5A11.

UniProtKB/Swiss-Prot for SLC5A3 Gene

  • Prevents intracellular accumulation of high concentrations of myo-inositol (an osmolyte) that result in impairment of cellular function.

Gene Wiki entry for SLC5A3 Gene

Additional gene information for SLC5A3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC5A3 Gene

Genomics for SLC5A3 Gene

Regulatory Elements for SLC5A3 Gene

Enhancers for SLC5A3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21H033935 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -135.1 -135071 5 BCOR ZNF146 ZMYM3 MAX ZNF384 BATF ZKSCAN1 ZNF316 ADNP MAFK LINC00649 ATP5O SLC5A3 MRPS6 ENSG00000214955 GART SON ENSG00000249209 ENSG00000273102
GH21H034029 1.6 FANTOM5 Ensembl ENCODE 12.2 -43.4 -43383 0 HNRNPUL1 PKNOX1 ATF1 ETS1 ELK1 ZNF143 FOS ATF7 RUNX3 SP3 SON SLC5A3 MRPS6 ENSG00000214955 GART LINC00649 LOC105372789
GH21H033968 1.5 Ensembl ENCODE dbSUPER 11.4 -103.2 -103211 4 PKNOX1 ATF1 ARNT FEZF1 DMAP1 ZNF2 YY1 ETS1 ZNF121 ZNF143 TMEM50B SON DONSON LINC00649 ATP5O SLC5A3 MRPS6 ENSG00000214955 GART GC21M033955
GH21H034019 1.4 FANTOM5 Ensembl ENCODE 11.9 -51.5 -51483 5 HDGF PKNOX1 RB1 BATF RAD21 ZBTB40 GATA2 ATF7 ETV6 RUNX3 MRPS6 SLC5A3 ENSG00000214955 LINC00649 ATP5O GART SON LOC105372789
GH21H033993 1 FANTOM5 Ensembl ENCODE 11.1 -79.6 -79602 0 POLR2A MAX WT1 MRPS6 SLC5A3 ENSG00000214955 PIR43313 LOC105372789
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC5A3 on UCSC Golden Path with GeneCards custom track

Promoters for SLC5A3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000141652 477 2401 ARID4B SIN3A DMAP1 GLI4 YY1 ZNF766 ATF7 ZNF202 SP3 SP5

Genomic Location for SLC5A3 Gene

Chromosome:
21
Start:
34,073,523 bp from pter
End:
34,106,262 bp from pter
Size:
32,740 bases
Orientation:
Plus strand

Genomic View for SLC5A3 Gene

Genes around SLC5A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC5A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC5A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC5A3 Gene

Proteins for SLC5A3 Gene

  • Protein details for SLC5A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53794-SC5A3_HUMAN
    Recommended name:
    Sodium/myo-inositol cotransporter
    Protein Accession:
    P53794
    Secondary Accessions:
    • O43489

    Protein attributes for SLC5A3 Gene

    Size:
    718 amino acids
    Molecular mass:
    79694 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC5A3 Gene

Post-translational modifications for SLC5A3 Gene

  • Ubiquitination at isoforms=290 and isoforms=596
  • Glycosylation at Asn232
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC5A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC5A3 Gene

Domains & Families for SLC5A3 Gene

Gene Families for SLC5A3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC5A3 Gene

Suggested Antigen Peptide Sequences for SLC5A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P53794

UniProtKB/Swiss-Prot:

SC5A3_HUMAN :
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
Family:
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
genes like me logo Genes that share domains with SLC5A3: view

Function for SLC5A3 Gene

Molecular function for SLC5A3 Gene

GENATLAS Biochemistry:
solute carrier family 5 (inositol transport),member 3,expressed predominantly in brain,kidney,placenta,involved in cellular osmoregulation
UniProtKB/Swiss-Prot Function:
Prevents intracellular accumulation of high concentrations of myo-inositol (an osmolyte) that result in impairment of cellular function.

Gene Ontology (GO) - Molecular Function for SLC5A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005367 myo-inositol:sodium symporter activity TAS --
GO:0015293 symporter activity IBA --
genes like me logo Genes that share ontologies with SLC5A3: view
genes like me logo Genes that share phenotypes with SLC5A3: view

Animal Models for SLC5A3 Gene

MGI Knock Outs for SLC5A3:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC5A3

CRISPR Products

miRNA for SLC5A3 Gene

miRTarBase miRNAs that target SLC5A3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC5A3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC5A3 Gene

Localization for SLC5A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC5A3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC5A3 gene
Compartment Confidence
plasma membrane 5
cytosol 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC5A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1372904
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 7789985
genes like me logo Genes that share ontologies with SLC5A3: view

Pathways & Interactions for SLC5A3 Gene

genes like me logo Genes that share pathways with SLC5A3: view

Pathways by source for SLC5A3 Gene

1 BioSystems pathway for SLC5A3 Gene

Interacting Proteins for SLC5A3 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000370543%0d%0a9606.ENSP00000315011%0d%0a9606.ENSP00000263025%0d%0a9606.ENSP00000215832%0d%0a
Selected Interacting proteins: ENSP00000370543 P53794-SC5A3_HUMAN for SLC5A3 Gene via STRING IID

Gene Ontology (GO) - Biological Process for SLC5A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006020 inositol metabolic process IEA,IBA --
GO:0006810 transport TAS 1372904
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0007422 peripheral nervous system development IEA --
genes like me logo Genes that share ontologies with SLC5A3: view

No data available for SIGNOR curated interactions for SLC5A3 Gene

Drugs & Compounds for SLC5A3 Gene

(10) Drugs for SLC5A3 Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
phlorizin Pharma Inhibition, Inhibitor Na+-glucose cotransporter (SGLT) inhibitor 0

(6) Additional Compounds for SLC5A3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC5A3: view

Transcripts for SLC5A3 Gene

mRNA/cDNA for SLC5A3 Gene

(1) REFSEQ mRNAs :
(460) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC5A3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SLC5A3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b
SP1:
SP2:
SP3:

Relevant External Links for SLC5A3 Gene

GeneLoc Exon Structure for
SLC5A3
ECgene alternative splicing isoforms for
SLC5A3

Expression for SLC5A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC5A3 Gene

Protein differential expression in normal tissues from HIPED for SLC5A3 Gene

This gene is overexpressed in Amniocyte (64.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC5A3 Gene



Protein tissue co-expression partners for SLC5A3 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC5A3 Gene:

SLC5A3

Evidence on tissue expression from TISSUES for SLC5A3 Gene

  • Kidney(2.6)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with SLC5A3: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC5A3 Gene

Orthologs for SLC5A3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC5A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC5A3 33
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia SLC5A3 33 34
  • 94.43 (n)
cow
(Bos Taurus)
Mammalia SLC5A3 33
  • 91.92 (n)
-- 34
  • 41 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Slc5a3 33 16 34
  • 90.71 (n)
rat
(Rattus norvegicus)
Mammalia Slc5a3 33
  • 89.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 87 (a)
OneToMany
SLC5A3 33
  • 79.15 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-125e6.9 34
  • 67 (a)
ManyToMany
si:ch211-132g1.5 34
  • 67 (a)
ManyToMany
LOC568338 33
  • 65.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
ManyToMany
-- 34
  • 53 (a)
ManyToMany
-- 34
  • 52 (a)
ManyToMany
Species where no ortholog for SLC5A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC5A3 Gene

ENSEMBL:
Gene Tree for SLC5A3 (if available)
TreeFam:
Gene Tree for SLC5A3 (if available)

Paralogs for SLC5A3 Gene

(6) SIMAP similar genes for SLC5A3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC5A3: view

Variants for SLC5A3 Gene

Sequence variations from dbSNP and Humsavar for SLC5A3 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000064656 -- 34,079,990(+) TCTTT(C/T)CCTGC intron-variant
rs1000090050 -- 34,093,571(+) AAGGA(A/G)AATGC intron-variant
rs1000156894 -- 34,079,854(+) TCCCC(G/T)TGGCA intron-variant
rs1000190074 -- 34,105,135(+) GGTAT(A/G)GAATT intron-variant, utr-variant-3-prime
rs1000196042 -- 34,101,557(+) CTGGT(C/G)TTTCT intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC5A3 Gene

Variant ID Type Subtype PubMed ID
dgv7820n54 CNV loss 21841781
dgv7821n54 CNV loss 21841781
dgv7822n54 CNV gain+loss 21841781
dgv7823n54 CNV gain 21841781
esv28721 CNV loss 19812545
nsv1073127 CNV deletion 25765185
nsv587408 CNV loss 21841781
nsv587417 CNV loss 21841781
nsv587419 CNV loss 21841781
nsv953355 CNV deletion 24416366

Variation tolerance for SLC5A3 Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC5A3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC5A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC5A3 Gene

Disorders for SLC5A3 Gene

Relevant External Links for SLC5A3

Genetic Association Database (GAD)
SLC5A3
Human Genome Epidemiology (HuGE) Navigator
SLC5A3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC5A3

No disorders were found for SLC5A3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC5A3 Gene

Publications for SLC5A3 Gene

  1. The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21. (PMID: 7789985) Berry GT … Spinner NB (Genomics 1995) 2 3 4 22 60
  2. The structural organization of the human Na+/myo-inositol cotransporter (SLC5A3) gene and characterization of the promoter. (PMID: 9441750) Mallee JJ … Berry GT (Genomics 1997) 3 4 22 60
  3. A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. (PMID: 20971364) Ripatti S … Kathiresan S (Lancet (London, England) 2010) 3 45 60
  4. Additive effect of multiple genetic variants on the risk of coronary artery disease. (PMID: 20738937) Lluís-Ganella C … Elosua R (Revista espanola de cardiologia 2010) 3 45 60
  5. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. (PMID: 19198609) Myocardial Infarction Genetics Consortium … Altshuler D (Nature genetics 2009) 3 45 60

Products for SLC5A3 Gene

Sources for SLC5A3 Gene

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