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SLC5A6 solute carrier family 5 member 6 [ Homo sapiens (human) ]

Gene ID: 8884, updated on 8-Jul-2021

Summary

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Official Symbol
SLC5A6provided by HGNC
Official Full Name
solute carrier family 5 member 6provided by HGNC
Primary source
HGNC:HGNC:11041
See related
Ensembl:ENSG00000138074 MIM:604024
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
SMVT; NERIB
Expression
Broad expression in placenta (RPKM 17.5), testis (RPKM 16.1) and 24 other tissues See more
Orthologs
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Genomic context

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See SLC5A6 in Genome Data Viewer
Location:
2p23.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27199587..27212342, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27422455..27435136, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene proline rich 30 Neighboring gene transcription factor 23 Neighboring gene all-trans retinoic acid induced differentiation factor Neighboring gene carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase Neighboring gene solute carrier family 30 member 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member C5 gamma

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. Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. Subramanian VS, et al. Hum Genet, 2017 Feb. PMID 27904971, Free PMC Article
  2. Interaction of α-Lipoic Acid with the Human Na+/Multivitamin Transporter (hSMVT). Zehnpfennig B, et al. J Biol Chem, 2015 Jun 26. PMID 25971966, Free PMC Article
  3. Biotin uptake by T47D breast cancer cells: functional and molecular evidence of sodium-dependent multivitamin transporter (SMVT). Vadlapudi AD, et al. Int J Pharm, 2013 Jan 30. PMID 23142496
  4. Functional and molecular aspects of biotin uptake via SMVT in human corneal epithelial (HCEC) and retinal pigment epithelial (D407) cells. Vadlapudi AD, et al. AAPS J, 2012 Dec. PMID 22927035, Free PMC Article
  5. Molecular expression and functional activity of sodium dependent multivitamin transporter in human prostate cancer cells. Patel M, et al. Int J Pharm, 2012 Oct 15. PMID 22732670

See all (52) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Integrated profiling identifies SLC5A6 and MFAP2 as novel diagnostic and prognostic biomarkers in gastric cancer patients.
    Title: Integrated profiling identifies SLC5A6 and MFAP2 as novel diagnostic and prognostic biomarkers in gastric cancer patients.
  2. This study shows for the first time that LPS inhibits colonic biotin uptake via decreasing membrane expression of its transporter and that these effects likely involve a CK2-mediated pathway.
    Title: Lipopolysaccharide inhibits colonic biotin uptake via interference with membrane expression of its transporter: a role for a casein kinase 2-mediated pathway.
  3. S. typhimurium infection inhibits intestinal biotin uptake by SLC5A6, and that the inhibition is mediated via the action of proinflammatory cytokines.
    Title: Salmonella infection inhibits intestinal biotin transport: cellular and molecular mechanisms.
  4. SMVT-mediated transport is highly specific for R-(+)-alpha-lipoic acid.
    Title: Interaction of α-Lipoic Acid with the Human Na+/Multivitamin Transporter (hSMVT).
  5. SLC5A6 is responsible for the supplies of biotin and pantothenic acid into the brain across the blood brain barrier.
    Title: Major involvement of Na(+) -dependent multivitamin transporter (SLC5A6/SMVT) in uptake of biotin and pantothenic acid by human brain capillary endothelial cells.
  6. these studies demonstrated for the first time the functional and molecular expression of sodium dependent multivitamin transporter (SMVT) in human derived breast cancer (T47D) cells
    Title: Biotin uptake by T47D breast cancer cells: functional and molecular evidence of sodium-dependent multivitamin transporter (SMVT).
  7. This study shows for the first time the functional and molecular presence of SMVT in immortalized human corneal epithelial (HCEC) and retinal pigment epithelial (D407) cells
    Title: Functional and molecular aspects of biotin uptake via SMVT in human corneal epithelial (HCEC) and retinal pigment epithelial (D407) cells.
  8. PCR analysis had confirmed the existence of FR-alpha, SMVT, and B ((0, +)) in Y-79 and ARPE-19 cells.
    Title: Differential expression of folate receptor-alpha, sodium-dependent multivitamin transporter, and amino acid transporter (B (0, +)) in human retinoblastoma (Y-79) and retinal pigment epithelial (ARPE-19) cell lines.
  9. This study for the first time confirms the molecular expression of SMVT and demonstrates that SMVT, responsible for biotin uptake, is functionally active in PC-3 prostate cancer cells
    Title: Molecular expression and functional activity of sodium dependent multivitamin transporter in human prostate cancer cells.
  10. Cys(294) is essential for the function of the human sodium-dependent multivitamin transporter.
    Title: Cys(294) is essential for the function of the human sodium-dependent multivitamin transporter.
Submit: New GeneRIF Correction See all GeneRIFs (22)

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

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Neurodegeneration, infantile-onset, biotin-responsive
MedGen: C5436520 OMIM: 618973 GeneReviews: Not available
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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

HIV-1 interactions

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Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC5A6 PubMed

Go to the HIV-1, Human Interaction Database

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 biotin transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables biotin transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables pantothenate transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sodium-dependent multivitamin transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables vitamin transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in biotin import across plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in biotin import across plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in biotin transport IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in iodide transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pantothenate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in pantothenate transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sodium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in transport across blood-brain barrier IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in basal plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in brush border membrane IEA
Inferred from Electronic Annotation
more info
  
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in vesicle membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
sodium-dependent multivitamin transporter
Names
Na(+)-dependent multivitamin transporter
Na+-dependent multivitamin transporter
solute carrier family 5 (sodium-dependent vitamin transporter), member 6
solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6

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_021095.4 → NP_066918.2  sodium-dependent multivitamin transporter

    See identical proteins and their annotated locations for NP_066918.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AC013403
    Consensus CDS
    CCDS1740.1
    UniProtKB/Swiss-Prot
    Q9Y289
    UniProtKB/TrEMBL
    Q9HD19
    Related
    ENSP00000310208.3, ENST00000310574.8
    Conserved Domains (1) summary
    cd11504
    Location:24 → 550
    SLC5sbd_SMVT; Na(+)/multivitamin cotransporter SMVT and related proteins; solute-binding domain

RNA

  1. NR_028323.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has two differences in the presence and absence of alternate segments, compared to variant 1. This variant is represented as non-coding because the use of the 5' most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC013403
    Related
    ENST00000488743.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    27199587..27212342 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453207.1 → XP_024308975.1  sodium-dependent multivitamin transporter isoform X3

    Conserved Domains (1) summary
    cl00456
    Location:24 → 515
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  2. XM_024453206.1 → XP_024308974.1  sodium-dependent multivitamin transporter isoform X2

    Conserved Domains (1) summary
    cl00456
    Location:24 → 517
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  3. XM_011533146.3 → XP_011531448.1  sodium-dependent multivitamin transporter isoform X5

    Conserved Domains (1) summary
    cl00456
    Location:23 → 327
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  4. XM_006712129.1 → XP_006712192.1  sodium-dependent multivitamin transporter isoform X1

    See identical proteins and their annotated locations for XP_006712192.1

    UniProtKB/Swiss-Prot
    Q9Y289
    Conserved Domains (1) summary
    cd11504
    Location:24 → 550
    SLC5sbd_SMVT; Na(+)/multivitamin cotransporter SMVT and related proteins; solute-binding domain

  5. XM_006712130.1 → XP_006712193.1  sodium-dependent multivitamin transporter isoform X1

    See identical proteins and their annotated locations for XP_006712193.1

    UniProtKB/Swiss-Prot
    Q9Y289
    Conserved Domains (1) summary
    cd11504
    Location:24 → 550
    SLC5sbd_SMVT; Na(+)/multivitamin cotransporter SMVT and related proteins; solute-binding domain

  6. XM_006712128.2 → XP_006712191.1  sodium-dependent multivitamin transporter isoform X1

    See identical proteins and their annotated locations for XP_006712191.1

    UniProtKB/Swiss-Prot
    Q9Y289
    Related
    ENSP00000384853.1, ENST00000408041.5
    Conserved Domains (1) summary
    cd11504
    Location:24 → 550
    SLC5sbd_SMVT; Na(+)/multivitamin cotransporter SMVT and related proteins; solute-binding domain

  7. XM_017005216.1 → XP_016860705.1  sodium-dependent multivitamin transporter isoform X4

RNA

  1. XR_002959356.1 RNA Sequence

  2. XR_002959357.1 RNA Sequence

  3. XR_002959358.1 RNA Sequence

  4. XR_001739022.1 RNA Sequence

  5. XR_001739025.2 RNA Sequence

  6. XR_001739024.2 RNA Sequence

  7. XR_001739023.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y289.2 GenPept UniProtKB/Swiss-Prot:Q9Y289

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