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SLC5A11 solute carrier family 5 member 11 [ Homo sapiens (human) ]

Gene ID: 115584, updated on 3-Apr-2024

Summary

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Official Symbol
SLC5A11provided by HGNC
Official Full Name
solute carrier family 5 member 11provided by HGNC
Primary source
HGNC:HGNC:23091
See related
Ensembl:ENSG00000158865 MIM:610238; AllianceGenome:HGNC:23091
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KST1; RKST1; SGLT6; SMIT2
Summary
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]
Expression
Biased expression in small intestine (RPKM 3.6), brain (RPKM 1.7) and 2 other tissues See more
Orthologs
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Genomic context

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See SLC5A11 in Genome Data Viewer
Location:
16p12.1
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (24845963..24911626)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (25121090..25191255)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (24857284..24922947)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene acyl-CoA-binding domain-containing protein 7-like Neighboring gene trinucleotide repeat containing adaptor 6A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10600 Neighboring gene long intergenic non-protein coding RNA 1567 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:24695075-24695665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:24697561-24698060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:24834133-24834633 Neighboring gene Sharpr-MPRA regulatory region 7462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:24917770-24918270 Neighboring gene Rho GTPase activating protein 17 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:24999769-25000372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10601 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:25025578-25026246 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:25026247-25026915 Neighboring gene thyroid hormone receptor interactor 11 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. 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. Roll P, et al. Gene, 2002 Feb 20. PMID 12039040
  2. Human sodium/inositol cotransporter 2 (SMIT2) transports inositols but not glucose in L6 cells. Lin X, et al. Arch Biochem Biophys, 2009 Jan 15. PMID 19032932, Free PMC Article
  3. Identification of a novel Na+/myo-inositol cotransporter. Coady MJ, et al. J Biol Chem, 2002 Sep 20. PMID 12133831
  4. The sodium-dependent glucose cotransporter SLC5A11 as an autoimmune modifier gene in SLE. Tsai LJ, et al. Tissue Antigens, 2008 Feb. PMID 18069935
  5. Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. Chung SA, et al. J Am Soc Nephrol, 2014 Dec. PMID 24925725, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  2. SLC5A11 is involved with some immune effects and interacts with immune-related gene(s); it is consistent with its function as an autoimmune modifier gene.
    Title: The sodium-dependent glucose cotransporter SLC5A11 as an autoimmune modifier gene in SLE.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glucose:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables myo-inositol transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables polyol transmembrane transporter activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glucose transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in myo-inositol transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in myo-inositol transport TAS
Traceable Author Statement
more info
  
involved_in polyol transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
sodium/myo-inositol cotransporter 2
Names
Na(+)/myo-inositol cotransporter 2
homolog of rabbit KST1
putative sodium-coupled cotransporter RKST1
sodium-dependent glucose cotransporter
sodium/glucose cotransporter KST1
sodium/myo-inositol transporter 2
solute carrier family 5 (sodium/glucose cotransporter), member 11
solute carrier family 5 (sodium/inositol cotransporter), member 11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001258411.3 → NP_001245340.1  sodium/myo-inositol cotransporter 2 isoform 2

    See identical proteins and their annotated locations for NP_001245340.1

    Status: VALIDATED

    Source sequence(s)
    AK303691, AY044906, DC332171, KC877600
    Consensus CDS
    CCDS58437.1
    UniProtKB/TrEMBL
    B7Z8N3
    Related
    ENSP00000454401.1, ENST00000567758.6
    Conserved Domains (1) summary
    cl00456
    Location:28 → 640
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  2. NM_001258412.3 → NP_001245341.1  sodium/myo-inositol cotransporter 2 isoform 3

    See identical proteins and their annotated locations for NP_001245341.1

    Status: VALIDATED

    Source sequence(s)
    AK295427, AY044906, DC332171, KC877600
    Consensus CDS
    CCDS58438.1
    UniProtKB/TrEMBL
    B7Z8N3
    Related
    ENSP00000456234.1, ENST00000568579.6
    Conserved Domains (1) summary
    cl00456
    Location:28 → 605
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  3. NM_001258413.3 → NP_001245342.1  sodium/myo-inositol cotransporter 2 isoform 4

    See identical proteins and their annotated locations for NP_001245342.1

    Status: VALIDATED

    Source sequence(s)
    AY044906, BC057780, DC332171, KC877600
    Consensus CDS
    CCDS58439.1
    UniProtKB/TrEMBL
    B7Z534
    Related
    ENSP00000457179.1, ENST00000565769.5
    Conserved Domains (1) summary
    cl00456
    Location:1 → 611
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  4. NM_001258414.2 → NP_001245343.1  sodium/myo-inositol cotransporter 2 isoform 5

    See identical proteins and their annotated locations for NP_001245343.1

    Status: VALIDATED

    Source sequence(s)
    BC049385, DC332171
    Consensus CDS
    CCDS58440.1
    UniProtKB/Swiss-Prot
    Q8WWX8
    Related
    ENSP00000456376.1, ENST00000569071.2
    Conserved Domains (1) summary
    cl00456
    Location:1 → 519
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  5. NM_001352235.2 → NP_001339164.1  sodium/myo-inositol cotransporter 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600
    UniProtKB/TrEMBL
    B7Z534
    Conserved Domains (1) summary
    cl00456
    Location:29 → 662
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  6. NM_001352236.2 → NP_001339165.1  sodium/myo-inositol cotransporter 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600
    Consensus CDS
    CCDS58439.1
    UniProtKB/TrEMBL
    B7Z534
    Conserved Domains (1) summary
    cl00456
    Location:1 → 611
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  7. NM_001352237.2 → NP_001339166.1  sodium/myo-inositol cotransporter 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600
    UniProtKB/TrEMBL
    B7Z534
    Conserved Domains (1) summary
    cl00456
    Location:1 → 576
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  8. NM_001352238.2 → NP_001339167.1  sodium/myo-inositol cotransporter 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600
    Consensus CDS
    CCDS58437.1
    UniProtKB/TrEMBL
    B7Z8N3
    Conserved Domains (1) summary
    cl00456
    Location:28 → 640
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  9. NM_001352242.2 → NP_001339171.1  sodium/myo-inositol cotransporter 2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600
    Consensus CDS
    CCDS10625.1
    UniProtKB/Swiss-Prot
    B7Z329, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5
    UniProtKB/TrEMBL
    B7Z8N3
    Conserved Domains (1) summary
    cd11490
    Location:28 → 675
    SLC5sbd_SGLT6; Na(+)/chiro-inositol cotransporter SGLT6 and related proteins; solute-binding domain

  10. NM_001352245.2 → NP_001339174.1  sodium/myo-inositol cotransporter 2 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC008731
    Conserved Domains (1) summary
    cl00456
    Location:28 → 583
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  11. NM_001352246.2 → NP_001339175.1  sodium/myo-inositol cotransporter 2 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC008731
    Conserved Domains (1) summary
    cl00456
    Location:28 → 583
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  12. NM_001352247.2 → NP_001339176.1  sodium/myo-inositol cotransporter 2 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC008731
    Conserved Domains (1) summary
    cl00456
    Location:28 → 548
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  13. NM_001352248.3 → NP_001339177.1  sodium/myo-inositol cotransporter 2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600
    Consensus CDS
    CCDS10625.1
    UniProtKB/Swiss-Prot
    B7Z329, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5
    UniProtKB/TrEMBL
    B7Z8N3
    Related
    ENSP00000416782.3, ENST00000424767.7
    Conserved Domains (1) summary
    cd11490
    Location:28 → 675
    SLC5sbd_SGLT6; Na(+)/chiro-inositol cotransporter SGLT6 and related proteins; solute-binding domain

  14. NM_001352249.2 → NP_001339178.1  sodium/myo-inositol cotransporter 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600
    Consensus CDS
    CCDS58439.1
    UniProtKB/TrEMBL
    B7Z534
    Conserved Domains (1) summary
    cl00456
    Location:1 → 611
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  15. NM_001352250.2 → NP_001339179.1  sodium/myo-inositol cotransporter 2 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600
    UniProtKB/TrEMBL
    B7Z8N3
    Conserved Domains (1) summary
    cl00456
    Location:28 → 648
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  16. NM_001352259.2 → NP_001339188.1  sodium/myo-inositol cotransporter 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600
    Consensus CDS
    CCDS58439.1
    UniProtKB/TrEMBL
    B7Z534
    Conserved Domains (1) summary
    cl00456
    Location:1 → 611
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  17. NM_001394076.1 → NP_001381005.1  sodium/myo-inositol cotransporter 2 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600
    UniProtKB/TrEMBL
    B7Z8N3
    Conserved Domains (1) summary
    cl00456
    Location:28 → 648
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  18. NM_001394077.1 → NP_001381006.1  sodium/myo-inositol cotransporter 2 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600
    UniProtKB/TrEMBL
    B7Z8N3
    Conserved Domains (1) summary
    cl00456
    Location:28 → 613
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  19. NM_001394078.1 → NP_001381007.1  sodium/myo-inositol cotransporter 2 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600
    UniProtKB/TrEMBL
    B7Z534
    Conserved Domains (1) summary
    cl00456
    Location:4 → 576
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  20. NM_001394079.1 → NP_001381008.1  sodium/myo-inositol cotransporter 2 isoform 13

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600
    UniProtKB/TrEMBL
    B7Z534
    Conserved Domains (1) summary
    cl00456
    Location:1 → 565
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  21. NM_001394080.1 → NP_001381009.1  sodium/myo-inositol cotransporter 2 isoform 14

    Status: VALIDATED

    Source sequence(s)
    AC008731
    Conserved Domains (1) summary
    cl00456
    Location:28 → 556
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RNA

  1. NR_147933.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600

  2. NR_147934.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600
    Related
    ENST00000545376.6

  3. NR_147935.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600

  4. NR_147936.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600

  5. NR_147938.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600

  6. NR_147939.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600

  7. NR_147940.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600

  8. NR_172075.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600

  9. NR_172076.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600

  10. NR_172077.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008731, KC877600

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    24845963..24911626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545725.3 → XP_011544027.2  sodium/myo-inositol cotransporter 2 isoform X3

    UniProtKB/TrEMBL
    B7Z8N3

  2. XM_047433573.1 → XP_047289529.1  sodium/myo-inositol cotransporter 2 isoform X1

    UniProtKB/Swiss-Prot
    B7Z329, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5
    Related
    ENSP00000289932.3, ENST00000347898.7

  3. XM_047433574.1 → XP_047289530.1  sodium/myo-inositol cotransporter 2 isoform X2

  4. XM_017022903.2 → XP_016878392.1  sodium/myo-inositol cotransporter 2 isoform X1

    UniProtKB/Swiss-Prot
    B7Z329, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5
    UniProtKB/TrEMBL
    B7Z8N3
    Conserved Domains (1) summary
    cd11490
    Location:28 → 675
    SLC5sbd_SGLT6; Na(+)/chiro-inositol cotransporter SGLT6 and related proteins; solute-binding domain

  5. XM_047433575.1 → XP_047289531.1  sodium/myo-inositol cotransporter 2 isoform X4

  6. XM_011545728.1 → XP_011544030.1  sodium/myo-inositol cotransporter 2 isoform X5

    Conserved Domains (1) summary
    cl00456
    Location:1 → 365
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021160019.1 Reference GRCh38.p14 PATCHES

    Range
    94827..165109
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332625.1 → XP_054188600.1  sodium/myo-inositol cotransporter 2 isoform X1

    UniProtKB/Swiss-Prot
    B7Z329, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5

  2. XM_054332627.1 → XP_054188602.1  sodium/myo-inositol cotransporter 2 isoform X1

    UniProtKB/Swiss-Prot
    B7Z329, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5

  3. XM_054332629.1 → XP_054188604.1  sodium/myo-inositol cotransporter 2 isoform X4

  4. XM_054332626.1 → XP_054188601.1  sodium/myo-inositol cotransporter 2 isoform X1

    UniProtKB/Swiss-Prot
    B7Z329, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5

  5. XM_054332628.1 → XP_054188603.1  sodium/myo-inositol cotransporter 2 isoform X3

  6. XM_054332630.1 → XP_054188605.1  sodium/myo-inositol cotransporter 2 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    25121090..25191255
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379511.1 → XP_054235486.1  sodium/myo-inositol cotransporter 2 isoform X1

  2. XM_054379512.1 → XP_054235487.1  sodium/myo-inositol cotransporter 2 isoform X1

  3. XM_054379515.1 → XP_054235490.1  sodium/myo-inositol cotransporter 2 isoform X4

  4. XM_054379513.1 → XP_054235488.1  sodium/myo-inositol cotransporter 2 isoform X2

  5. XM_054379514.1 → XP_054235489.1  sodium/myo-inositol cotransporter 2 isoform X3

  6. XM_054379516.1 → XP_054235491.1  sodium/myo-inositol cotransporter 2 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WWX8.1 GenPept UniProtKB/Swiss-Prot:Q8WWX8

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