Aliases for SLC5A3 Gene

Aliases for SLC5A3 Gene

  • Solute Carrier Family 5 Member 3 2 3 4 5
  • SMIT1 2 3 4
  • Solute Carrier Family 5 (Sodium/Myo-Inositol Cotransporter), Member 3 2 3
  • Sodium/Myo-Inositol Cotransporter 3 4
  • Sodium/Myo-Inositol Transporter 1 3 4
  • Na(+)/Myo-Inositol Cotransporter 3 4
  • SMIT 2 3
  • Solute Carrier Family 5 (Inositol Transporters), Member 3 3
  • Solute Carrier Family 5 (Inositol Transporter), Member 3 2
  • Sodium/Myo-Inositol Cotransporter 1 3
  • SLC5A3 5
  • SMIT2 3
  • BCW2 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
  • GC21P034098
  • GC21P034104
  • GC21P034107
  • GC21P034109
  • GC21P034080
  • GC21P034083
  • GC21P034086
  • GC21P034088
  • GC21P034090
  • GC21P034092
  • GC21P034094
  • GC21P034096

Summaries for SLC5A3 Gene

GeneCards Summary for SLC5A3 Gene

SLC5A3 (Solute Carrier Family 5 Member 3) is a Protein Coding gene. Diseases associated with SLC5A3 include Galactosemia I and Down Syndrome. Among its related pathways are NRF2 pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and myo-inositol:sodium symporter activity. An important paralog of this gene is SLC5A9.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for SLC5A3 Gene

Genomics for SLC5A3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC5A3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC5A3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC5A3

Top Transcription factor binding sites by QIAGEN in the SLC5A3 gene promoter:
  • FOXO3
  • FOXO3a
  • FOXO3b
  • GATA-1
  • GCNF
  • ISGF-3
  • LCR-F1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for SLC5A3 Gene

Genomic Locations for SLC5A3 Gene
chr21:34,073,578-34,106,260
(GRCh38/hg38)
Size:
32,683 bases
Orientation:
Plus strand
chr21:35,445,870-35,478,561
(GRCh37/hg19)
Size:
32,692 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

  • Glycosylation at Asn232 and Asn240
  • Ubiquitination at Lys290 and Lys596
  • 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

Protein Domains for SLC5A3 Gene

InterPro:
Blocks:
  • Na+/solute symporter
ProtoNet:

Suggested Antigen Peptide Sequences for SLC5A3 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 5 member 3 (SC5A3_HUMAN)

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

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

Phenotypes From GWAS Catalog for SLC5A3 Gene

Gene Ontology (GO) - Molecular Function for SLC5A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005365 myo-inositol transmembrane transporter activity ISS --
GO:0005367 myo-inositol:sodium symporter activity TAS --
GO:0005412 glucose:sodium symporter activity IBA,ISS --
GO:0015146 pentose transmembrane transporter activity ISS --
GO:0015150 fucose transmembrane transporter activity ISS --
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC5A3

No data available for Enzyme Numbers (IUBMB) , 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 3
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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,IBA 21873635
GO:0048471 perinuclear region of cytoplasm IDA 25756525
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

Gene Ontology (GO) - Biological Process for SLC5A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006020 inositol metabolic process IEA,IBA 21873635
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0007422 peripheral nervous system development IEA --
GO:0015750 pentose transmembrane transport ISS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Inositol Approved, Investigational, Withdrawn Pharma Transporter, substrate 110
phlorizin Pharma Inhibitor, Inhibition Na+-glucose cotransporter (SGLT) inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • 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 :
11 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC5A3

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

Expression for SLC5A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SLC5A3 Gene



Protein tissue co-expression partners for SLC5A3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC5A3

Evidence on tissue expression from TISSUES for SLC5A3 Gene

  • Kidney(2.9)
  • Nervous system(2.6)
  • Intestine(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with SLC5A3: view

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 30
  • 99.63 (n)
Dog
(Canis familiaris)
Mammalia SLC5A3 30 31
  • 94.43 (n)
OneToMany
Cow
(Bos Taurus)
Mammalia SLC5A3 30
  • 91.92 (n)
-- 31
  • 41 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Slc5a3 30 17 31
  • 90.71 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Slc5a3 30
  • 89.32 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 84 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 87 (a)
OneToMany
SLC5A3 30
  • 79.15 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-132g1.5 31
  • 67 (a)
ManyToMany
si:ch211-125e6.9 31
  • 67 (a)
ManyToMany
LOC568338 30
  • 65.85 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
ManyToMany
-- 31
  • 53 (a)
ManyToMany
-- 31
  • 52 (a)
ManyToMany
Species where no ortholog for SLC5A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC5A3: view image

Paralogs for SLC5A3 Gene

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

  • SC5A3_HUMAN
genes like me logo Genes that share paralogs with SLC5A3: view

Variants for SLC5A3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC5A3 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
756704 Likely Benign: not provided 34,096,401(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
rs4817617 - p.Gln566Lys
rs8129891 - p.Thr50Ala

Additional dbSNP identifiers (rs#s) for SLC5A3 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(4) MalaCards diseases for SLC5A3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
galactosemia i
  • galk deficiency
down syndrome
  • trisomy 21
cerebellar ataxia, cayman type
  • atcay
bipolar disorder
  • major affective disorder 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC5A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC5A3: view

No data available for 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 23
  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 23
  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 41
  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 41
  5. Human sodium/inositol cotransporter 2 (SMIT2) transports inositols but not glucose in L6 cells. (PMID: 19032932) Lin X … Ostlund RE (Archives of biochemistry and biophysics 2009) 3 23

Products for SLC5A3 Gene

Sources for SLC5A3 Gene