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Aliases for SLC5A6 Gene

Aliases for SLC5A6 Gene

  • Solute Carrier Family 5 Member 6 2 3 4
  • Solute Carrier Family 5 (Sodium/Multivitamin And Iodide Cotransporter), Member 6 2 3 5
  • Solute Carrier Family 5 (Sodium-Dependent Vitamin Transporter), Member 6 2 3
  • Na(+)-Dependent Multivitamin Transporter 3 4
  • SMVT 3 4
  • Na+-Dependent Multivitamin Transporter 3

External Ids for SLC5A6 Gene

Previous GeneCards Identifiers for SLC5A6 Gene

  • GC02M027343
  • GC02M027515
  • GC02M027396
  • GC02M027335
  • GC02M027276
  • GC02M027422

Summaries for SLC5A6 Gene

GeneCards Summary for SLC5A6 Gene

SLC5A6 (Solute Carrier Family 5 Member 6) is a Protein Coding gene. Diseases associated with SLC5A6 include thiamine metabolism dysfunction syndrome 2 and urinary tract obstruction. Among its related pathways are Metabolism and 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 sodium-dependent multivitamin transmembrane transporter activity. An important paralog of this gene is SLC5A10.

UniProtKB/Swiss-Prot for SLC5A6 Gene

  • Transports pantothenate, biotin and lipoate in the presence of sodium.

Gene Wiki entry for SLC5A6 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC5A6 Gene

Genomics for SLC5A6 Gene

Regulatory Elements for SLC5A6 Gene

Promoters for SLC5A6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC5A6 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC5A6 Gene

Chromosome:
2
Start:
27,199,587 bp from pter
End:
27,212,958 bp from pter
Size:
13,372 bases
Orientation:
Minus strand

Genomic View for SLC5A6 Gene

Genes around SLC5A6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC5A6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC5A6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC5A6 Gene

Proteins for SLC5A6 Gene

  • Protein details for SLC5A6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y289-SC5A6_HUMAN
    Recommended name:
    Sodium-dependent multivitamin transporter
    Protein Accession:
    Q9Y289
    Secondary Accessions:
    • B2RB85
    • D6W549
    • Q969Y5

    Protein attributes for SLC5A6 Gene

    Size:
    635 amino acids
    Molecular mass:
    68642 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC5A6 Gene

Proteomics data for SLC5A6 Gene at MOPED

Post-translational modifications for SLC5A6 Gene

  • Ubiquitination at Lys 579 and Lys 599
  • Glycosylation at Asn 138, Asn 489, and Asn 498
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SLC5A6 Gene

Domains & Families for SLC5A6 Gene

Gene Families for SLC5A6 Gene

HGNC:
IUPHAR :

Protein Domains for SLC5A6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y289

UniProtKB/Swiss-Prot:

SC5A6_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 SLC5A6: view

Function for SLC5A6 Gene

Molecular function for SLC5A6 Gene

GENATLAS Biochemistry:
solute carrier family 5,member A6,sodium dependent multivitamin transporter mediating the upstake of pentothenate,biotin,lipoate,expressed in placenta,small intestine,kidney
UniProtKB/Swiss-Prot Function:
Transports pantothenate, biotin and lipoate in the presence of sodium.
genes like me logo Genes that share phenotypes with SLC5A6: view

Animal Models for SLC5A6 Gene

MGI Knock Outs for SLC5A6:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC5A6 Gene

Localization for SLC5A6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC5A6 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC5A6 Gene COMPARTMENTS Subcellular localization image for SLC5A6 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SLC5A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA,TAS 9516450
GO:0031526 brush border membrane IEA --
genes like me logo Genes that share ontologies with SLC5A6: view

Pathways & Interactions for SLC5A6 Gene

genes like me logo Genes that share pathways with SLC5A6: view

Interacting Proteins for SLC5A6 Gene

Gene Ontology (GO) - Biological Process for SLC5A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006768 biotin metabolic process TAS --
GO:0006810 transport IEA,TAS 9516450
GO:0015887 pantothenate transmembrane transport IEA,IBA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with SLC5A6: view

No data available for SIGNOR curated interactions for SLC5A6 Gene

Drugs & Compounds for SLC5A6 Gene

(16) Drugs for SLC5A6 Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved Nutra Target 36
gabapentin enacarbil Approved Pharma Transporter, substrate 0
Lipoic Acid Approved Nutra Target 0

(15) Additional Compounds for SLC5A6 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
(S)-lipoic acid
  • (S)-(−)-lipoic acid
  • (S)-1,2-dithiolane-3-pentanoic acid
  • (S)-alpha-lipoic acid
  • L-1,2-dithiolane 3-valeric acid
  • L-6,8-thioctic acid
1077-27-6
genes like me logo Genes that share compounds with SLC5A6: view

Transcripts for SLC5A6 Gene

Unigene Clusters for SLC5A6 Gene

Solute carrier family 5 (sodium-dependent vitamin transporter), member 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC5A6 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b ^
SP1: - - - - - - - - -
SP2: - - - - - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - - - - - - -
SP9: - - - - - - - -
SP10: - - - - - - -
SP11: -
SP12: - -
SP13: - - - - - - - - -
SP14: - - - -
SP15: -
SP16:

ExUns: 16a · 16b ^ 17 ^ 18a · 18b · 18c ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25
SP1: - -
SP2: -
SP3: - -
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for SLC5A6 Gene

GeneLoc Exon Structure for
SLC5A6
ECgene alternative splicing isoforms for
SLC5A6

Expression for SLC5A6 Gene

mRNA expression in normal human tissues for SLC5A6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC5A6 Gene

This gene is overexpressed in Liver (x10.4).

Protein differential expression in normal tissues from HIPED for SLC5A6 Gene

This gene is overexpressed in Bone (24.1), Cerebral cortex (18.5), Placenta (17.6), and Liver (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC5A6 Gene



SOURCE GeneReport for Unigene cluster for SLC5A6 Gene Hs.435735

genes like me logo Genes that share expression patterns with SLC5A6: view

Protein tissue co-expression partners for SLC5A6 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SLC5A6 Gene

Orthologs for SLC5A6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC5A6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC5A6 35
  • 86.14 (n)
  • 85.51 (a)
SLC5A6 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC5A6 35
  • 85.86 (n)
  • 85.96 (a)
SLC5A6 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc5a6 35
  • 83.15 (n)
  • 82.78 (a)
Slc5a6 16
Slc5a6 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC5A6 35
  • 99.37 (n)
  • 99.37 (a)
SLC5A6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc5a6 35
  • 83.41 (n)
  • 83.94 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC5A6 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC5A6 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC5A6 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC5A6 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc5a6 35
  • 71.55 (n)
  • 73.31 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-5g7.3 35
  • 64.45 (n)
  • 66.07 (a)
slc5a6 36
  • 61 (a)
OneToMany
SLC5A6 (2 of 2) 36
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10444 37
  • 40 (a)
CG2187 37
  • 32 (a)
CG2191 37
  • 32 (a)
CG2196 37
  • 31 (a)
CG5687 37
  • 31 (a)
CG6723 37
  • 33 (a)
CG7720 37
  • 29 (a)
CG8451 37
  • 32 (a)
CG8934 37
  • 33 (a)
CG8966 37
  • 33 (a)
CG9657 37
  • 30 (a)
CG10444 36
  • 37 (a)
OneToMany
CG32669 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F52H2.4 37
  • 28 (a)
ZK822.5 37
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToOne
Species with no ortholog for SLC5A6:
  • A. gosspyii yeast (Ashbya 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)
  • 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)

Evolution for SLC5A6 Gene

ENSEMBL:
Gene Tree for SLC5A6 (if available)
TreeFam:
Gene Tree for SLC5A6 (if available)

Paralogs for SLC5A6 Gene

genes like me logo Genes that share paralogs with SLC5A6: view

Variants for SLC5A6 Gene

Sequence variations from dbSNP and Humsavar for SLC5A6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1395 - 27,201,768(+) TGCTG(A/G)AGCCC nc-transcript-variant, reference, missense
rs1064845 - 27,201,735(-) GTCCA(A/G)CTTCT nc-transcript-variant, reference, missense
rs7081 -- 27,199,737(-) TGACC(A/G)GGTCC nc-transcript-variant, utr-variant-3-prime
rs996650 -- 27,208,327(-) GACGC(C/G)TGAAA intron-variant, upstream-variant-2KB
rs1275522 -- 27,204,010(+) GGCAC(C/T)TCTGC intron-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for SLC5A6 Gene

Variant ID Type Subtype PubMed ID
nsv833603 CNV Loss 17160897
nsv873754 CNV Loss 21882294

Variation tolerance for SLC5A6 Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.71; 57.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC5A6 Gene

HapMap Linkage Disequilibrium report
SLC5A6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC5A6 Gene

Disorders for SLC5A6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC5A6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
thiamine metabolism dysfunction syndrome 2
  • biotin-responsive basal ganglia disease
urinary tract obstruction
  • obstructive uropathy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC5A6

Genetic Association Database (GAD)
SLC5A6
Human Genome Epidemiology (HuGE) Navigator
SLC5A6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC5A6
genes like me logo Genes that share disorders with SLC5A6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC5A6 Gene

Publications for SLC5A6 Gene

  1. Human placental Na+-dependent multivitamin transporter. Cloning, functional expression, gene structure, and chromosomal localization. (PMID: 10329687) Wang H. … Prasad P.D. (J. Biol. Chem. 1999) 2 3 4 23 67
  2. Regulation of the human biotin transporter hSMVT promoter by KLF-4 and AP-2: confirmation of promoter activity in vivo. (PMID: 17135299) Reidling J.C. … Said H.M. (Am. J. Physiol., Cell Physiol. 2007) 3 23 25 26
  3. Functional characterization of sodium-dependent multivitamin transporter in MDCK-MDR1 cells and its utilization as a target for drug delivery. (PMID: 16749865) Luo S. … Mitra A.K. (Mol. Pharm. 2006) 3 23 25 26
  4. Characterization of the 5' regulatory region of the human sodium- dependent multivitamin transporter, hSMVT. (PMID: 11955628) Dey S. … Said H.M. (Biochim. Biophys. Acta 2002) 3 23 25 26
  5. Synthesis of a rabbit polyclonal antibody to the human sodium-dependent multivitamin transporter. (PMID: 12214555) Griffin J.B. … Zempleni J. (Int J Vitam Nutr Res 2002) 23 25 26

Products for SLC5A6 Gene

Sources for SLC5A6 Gene

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