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Aliases for SLC5A11 Gene

Aliases for SLC5A11 Gene

  • Solute Carrier Family 5 Member 11 2 3 4
  • Solute Carrier Family 5 (Sodium/Inositol Cotransporter), Member 11 2 3 5
  • Solute Carrier Family 5 (Sodium/Glucose Cotransporter), Member 11 2 3
  • Sodium-Dependent Glucose Cotransporter 3 4
  • Na(+)/Myo-Inositol Cotransporter 2 3 4
  • Sodium/Glucose Cotransporter KST1 3 4
  • Sodium/Myo-Inositol Transporter 2 3 4
  • SMIT2 3 4
  • KST1 3 4
  • Putative Sodium-Coupled Cotransporter RKST1 3
  • Homolog Of Rabbit KST1 3
  • RKST1 3
  • SGLT6 3
  • SLGTX 4

External Ids for SLC5A11 Gene

Previous GeneCards Identifiers for SLC5A11 Gene

  • GC16P024825
  • GC16P024765
  • GC16P022948

Summaries for SLC5A11 Gene

Entrez Gene Summary for SLC5A11 Gene

  • Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008]

GeneCards Summary for SLC5A11 Gene

SLC5A11 (Solute Carrier Family 5 Member 11) is a Protein Coding gene. Diseases associated with SLC5A11 include infantile convulsions and choreoathetosis. Among its related pathways are 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 symporter activity. An important paralog of this gene is SLC5A10.

UniProtKB/Swiss-Prot for SLC5A11 Gene

  • Involved in the sodium-dependent cotransport of myo-inositol (MI) with a Na(+):MI stoichiometry of 2:1. Exclusively responsible for apical MI transport and absorption in intestine. Also can transport D-chiro-inositol (DCI) but not L-fructose. Exhibits stereospecific cotransport of both D-glucose and D-xylose. May induce apoptosis through the TNF-alpha, PDCD1 pathway. May play a role in the regulation of MI concentration in serum, involving reabsorption in at least the proximal tubule of the kidney.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC5A11 Gene

Genomics for SLC5A11 Gene

Regulatory Elements for SLC5A11 Gene

Genomic Location for SLC5A11 Gene

Chromosome:
16
Start:
24,845,841 bp from pter
End:
24,911,628 bp from pter
Size:
65,788 bases
Orientation:
Plus strand

Genomic View for SLC5A11 Gene

Genes around SLC5A11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC5A11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC5A11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC5A11 Gene

Proteins for SLC5A11 Gene

  • Protein details for SLC5A11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWX8-SC5AB_HUMAN
    Recommended name:
    Sodium/myo-inositol cotransporter 2
    Protein Accession:
    Q8WWX8
    Secondary Accessions:
    • B7Z329
    • Q05BF1
    • Q6PF02
    • Q6ZUW3
    • Q86Y55
    • Q96PP5

    Protein attributes for SLC5A11 Gene

    Size:
    675 amino acids
    Molecular mass:
    74036 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Acts as an autoimmune modifier in systemic lupus erythematosus (SLE) as it is significantly associated with low complement component 4 (C4), anti-Smith antibody, serositis, and alopecia.

    Alternative splice isoforms for SLC5A11 Gene

neXtProt entry for SLC5A11 Gene

Proteomics data for SLC5A11 Gene at MOPED

Post-translational modifications for SLC5A11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for SLC5A11 Gene

Domains & Families for SLC5A11 Gene

Gene Families for SLC5A11 Gene

Protein Domains for SLC5A11 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8WWX8

UniProtKB/Swiss-Prot:

SC5AB_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 SLC5A11: view

Function for SLC5A11 Gene

Molecular function for SLC5A11 Gene

UniProtKB/Swiss-Prot Function:
Involved in the sodium-dependent cotransport of myo-inositol (MI) with a Na(+):MI stoichiometry of 2:1. Exclusively responsible for apical MI transport and absorption in intestine. Also can transport D-chiro-inositol (DCI) but not L-fructose. Exhibits stereospecific cotransport of both D-glucose and D-xylose. May induce apoptosis through the TNF-alpha, PDCD1 pathway. May play a role in the regulation of MI concentration in serum, involving reabsorption in at least the proximal tubule of the kidney.
genes like me logo Genes that share phenotypes with SLC5A11: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC5A11 Gene

Localization for SLC5A11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC5A11 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC5A11 Gene COMPARTMENTS Subcellular localization image for SLC5A11 gene
Compartment Confidence
plasma membrane 5
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC5A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC5A11: view

Pathways & Interactions for SLC5A11 Gene

genes like me logo Genes that share pathways with SLC5A11: view

Interacting Proteins for SLC5A11 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000289932%0d%0a9606.ENSP00000261667%0d%0a
Selected Interacting proteins: ENSP00000289932 Q8WWX8-SC5AB_HUMAN for SLC5A11 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for SLC5A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008643 carbohydrate transport IEA --
genes like me logo Genes that share ontologies with SLC5A11: view

No data available for SIGNOR curated interactions for SLC5A11 Gene

Drugs & Compounds for SLC5A11 Gene

(2) Drugs for SLC5A11 Gene - From: ApexBio, IUPHAR, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
phlorizin Pharma Inhibition, Inhibitor Na+-glucose cotransporter inhibitor 0
Empagliflozin (BI 10773) Pharma SGLT-2 inhibitor for oral treatment of type 2 diabetes 0

(2) Additional Compounds for SLC5A11 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Xylose
  • D-(+)-Xylose
  • D-Xylo-pentose
  • D-Xylose
  • Wood sugar
  • Xylo-pfan
58-86-6
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC5A11: view

Transcripts for SLC5A11 Gene

Unigene Clusters for SLC5A11 Gene

Solute carrier family 5 (sodium/glucose cotransporter), member 11:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC5A11 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18
SP1:
SP2: - -
SP3: - - -
SP4: -

Relevant External Links for SLC5A11 Gene

GeneLoc Exon Structure for
SLC5A11
ECgene alternative splicing isoforms for
SLC5A11

Expression for SLC5A11 Gene

mRNA expression in normal human tissues for SLC5A11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC5A11 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x15.5), Brain - Substantia nigra (x12.1), and Brain - Hippocampus (x4.7).

Protein differential expression in normal tissues from HIPED for SLC5A11 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC5A11 Gene



SOURCE GeneReport for Unigene cluster for SLC5A11 Gene Hs.164118

mRNA Expression by UniProt/SwissProt for SLC5A11 Gene

Q8WWX8-SC5AB_HUMAN
Tissue specificity: Highest expression in heart, skeletal muscle, kidney, liver and placenta. Weaker expression in brain, colon, spleen, lung and peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with SLC5A11: view

Protein tissue co-expression partners for SLC5A11 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for SLC5A11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC5A11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC5A11 35
  • 97.86 (n)
  • 97.19 (a)
SLC5A11 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC5A11 36
  • 88 (a)
OneToOne
SLC5A11 35
  • 87.83 (n)
  • 88.28 (a)
dog
(Canis familiaris)
Mammalia SLC5A11 35
  • 87.73 (n)
  • 89.09 (a)
SLC5A11 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc5a11 36
  • 86 (a)
OneToOne
Slc5a11 16
Slc5a11 35
  • 85.64 (n)
  • 86.63 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC5A11 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC5A11 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc5a11 35
  • 85.09 (n)
  • 86.78 (a)
chicken
(Gallus gallus)
Aves SLC5A11 36
  • 70 (a)
OneToOne
SLC5A11 35
  • 71.91 (n)
  • 72.16 (a)
lizard
(Anolis carolinensis)
Reptilia SLC5A11 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia sglt-1-like-A-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia slc5a11 35
  • 66.87 (n)
  • 70.85 (a)
zebrafish
(Danio rerio)
Actinopterygii slc5a11 36
  • 63 (a)
OneToOne
slc5a11 35
  • 64.15 (n)
  • 63.84 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToMany
-- 36
  • 52 (a)
OneToMany
Species with no ortholog for SLC5A11:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC5A11 Gene

ENSEMBL:
Gene Tree for SLC5A11 (if available)
TreeFam:
Gene Tree for SLC5A11 (if available)

Paralogs for SLC5A11 Gene

(6) SIMAP similar genes for SLC5A11 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SLC5A11: view

Variants for SLC5A11 Gene

Sequence variations from dbSNP and Humsavar for SLC5A11 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs11074656 - 24,877,325(+) CATAG(C/G/T)TGGGC reference, missense
rs35993597 - 24,890,978(-) ATATG(C/G)AAGGC intron-variant, reference, missense
rs17854935 - 24,908,052(+) TATCC(A/G)GTCCA reference, missense
VAR_042899 -
rs36048966 - 24,862,604(-) CACTG(G/T)GGACT reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC5A11 Gene

Variant ID Type Subtype PubMed ID
nsv833175 CNV Loss 17160897
esv2714116 CNV Deletion 23290073
esv2415734 CNV Deletion 18987734
esv2714117 CNV Deletion 23290073
esv2714119 CNV Deletion 23290073
nsv509607 CNV Insertion 20534489
esv2670890 CNV Deletion 23128226

Variation tolerance for SLC5A11 Gene

Residual Variation Intolerance Score: 76.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.79; 79.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC5A11 Gene

HapMap Linkage Disequilibrium report
SLC5A11
Human Gene Mutation Database (HGMD)
SLC5A11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC5A11 Gene

Disorders for SLC5A11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC5A11 Gene - From: GeneCards

Disorder Aliases PubMed IDs
infantile convulsions and choreoathetosis
  • icca syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC5A11

Genetic Association Database (GAD)
SLC5A11
Human Genome Epidemiology (HuGE) Navigator
SLC5A11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC5A11
genes like me logo Genes that share disorders with SLC5A11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC5A11 Gene

Publications for SLC5A11 Gene

  1. The sodium-dependent glucose cotransporter SLC5A11 as an autoimmune modifier gene in SLE. (PMID: 18069935) Tsai L.-J. … Lan J.-L. (Tissue Antigens 2008) 3 4 48 67
  2. Identification of a novel Na+/myo-inositol cotransporter. (PMID: 12133831) Coady M.J. … Lapointe J.Y. (J. Biol. Chem. 2002) 2 3
  3. New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families. (PMID: 12039040) Roll P. … Szepetowski P. (Gene 2002) 2 3
  4. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin S.Y. … Soranzo N. (Nat. Genet. 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for SLC5A11 Gene

Sources for SLC5A11 Gene

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