Human Gene SLC5A11 (ENST00000347898.7) from GENCODE V44
  Description: 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. (from UniProt Q8WWX8)
RefSeq Summary (NM_001352242): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000347898.7
Gencode Gene: ENSG00000158865.13
Transcript (Including UTRs)
   Position: hg38 chr16:24,845,841-24,911,628 Size: 65,788 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg38 chr16:24,858,644-24,911,533 Size: 52,890 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:24,845,841-24,911,628)mRNA (may differ from genome)Protein (675 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
HPRDLynxMalacardsMGIneXtProtPubMed
ReactomeUniProtKB

-  Comments and Description Text from UniProtKB
  ID: SC5AB_HUMAN
DESCRIPTION: RecName: Full=Sodium/myo-inositol cotransporter 2; Short=Na(+)/myo-inositol cotransporter 2; AltName: Full=Sodium-dependent glucose cotransporter; AltName: Full=Sodium/glucose cotransporter KST1; AltName: Full=Sodium/myo-inositol transporter 2; Short=SMIT2; AltName: Full=Solute carrier family 5 member 11;
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.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (By similarity).
TISSUE SPECIFICITY: Highest expression in heart, skeletal muscle, kidney, liver and placenta. Weaker expression in brain, colon, spleen, lung and peripheral blood leukocytes.
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.
SIMILARITY: Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.18 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 94.47 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -260.00622-0.418 Picture PostScript Text
3' UTR -16.4095-0.173 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001734 - Na/solute_symporter
IPR019900 - Na/solute_symporter_subgr

Pfam Domains:
PF00474 - Sodium:solute symporter family

ModBase Predicted Comparative 3D Structure on Q8WWX8
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005412 glucose:sodium symporter activity
GO:0005515 protein binding
GO:0015166 polyol transmembrane transporter activity
GO:0015293 symporter activity
GO:0022857 transmembrane transporter activity

Biological Process:
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0006915 apoptotic process
GO:0008643 carbohydrate transport
GO:0015798 myo-inositol transport
GO:0055085 transmembrane transport
GO:1904659 glucose transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC049385 - Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11, mRNA (cDNA clone MGC:50837 IMAGE:5755223), complete cds.
AK295427 - Homo sapiens cDNA FLJ50153 complete cds, highly similar to Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.
AK303691 - Homo sapiens cDNA FLJ58104 complete cds, highly similar to Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.
BC057780 - Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11, mRNA (cDNA clone MGC:71585 IMAGE:5287366), complete cds.
AY044906 - Homo sapiens sodium/glucose cotransporter KST1 mRNA, complete cds.
AK298373 - Homo sapiens cDNA FLJ50826 complete cds, highly similar to Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.
AK125267 - Homo sapiens cDNA FLJ43277 fis, clone KIDNE2011635, highly similar to Rabbit mRNA for sodium-glucose cotransporter.
AJ305237 - Homo sapiens mRNA for sodium-dependent glucose transporter (SLGTX gene).
AF292385 - Homo sapiens putative sodium-coupled cotransporter RKST1 mRNA, complete cds.
KJ903657 - Synthetic construct Homo sapiens clone ccsbBroadEn_13051 SLC5A11 gene, encodes complete protein.
KR710983 - Synthetic construct Homo sapiens clone CCSBHm_00018524 SLC5A11 (SLC5A11) mRNA, encodes complete protein.
JD310787 - Sequence 291811 from Patent EP1572962.
JD519452 - Sequence 500476 from Patent EP1572962.
CU691230 - Synthetic construct Homo sapiens gateway clone IMAGE:100021242 5' read SLC5A11 mRNA.
U41898 - Human sodium cotransporter RKST1 mRNA, partial cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WWX8 (Reactome details) participates in the following event(s):

R-HSA-429571 Co-transport (influx) of myo-inositol/D-chiro-inositol and two Na+ ions by SGLT6
R-HSA-429593 Inositol transporters
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000347898.1, ENST00000347898.2, ENST00000347898.3, ENST00000347898.4, ENST00000347898.5, ENST00000347898.6, KST1, NR_172075, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5, SC5AB_HUMAN, SLGTX, SMIT2, uc002dmu.1, uc002dmu.2, uc002dmu.3, uc002dmu.4, uc002dmu.5
UCSC ID: ENST00000347898.7
RefSeq Accession: NM_001352242
Protein: Q8WWX8 (aka SC5AB_HUMAN)
CCDS: CCDS10625.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.