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Aliases for SLC5A6 Gene

Aliases for SLC5A6 Gene

  • Solute Carrier Family 5 Member 6 2 3 4 5
  • Solute Carrier Family 5 (Sodium/Multivitamin And Iodide Cotransporter), Member 6 2 3
  • Solute Carrier Family 5 (Sodium-Dependent Vitamin Transporter), Member 6 2 3
  • Na(+)-Dependent Multivitamin Transporter 3 4
  • SMVT 3 4
  • Sodium-Dependent Multivitamin Transporter 3
  • 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 Vitamin digestion and absorption and Metabolism. GO annotations related to this gene include transporter activity and sodium-dependent multivitamin transmembrane transporter activity. An important paralog of this gene is SLC5A8.

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

Enhancers for SLC5A6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F027169 0.7 Ensembl ENCODE 11.3 +41.7 41690 2.9 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 ZNF143 ZNF263 SP5 ZHX2 ATRAID GTF3C2 TCF23 PRR30 PREB SLC5A6 ABHD1 CAD DNAJC5G SLC30A3
GH02F027164 0.6 ENCODE 11.3 +47.6 47602 1.1 PKNOX1 RAD51 MTA2 IKZF1 PRDM10 SPI1 GTF3C2 PRR30 PREB ATRAID SLC5A6 ABHD1 CGREF1 CAD KHK EMILIN1
GH02F027090 0.5 Ensembl 11 +122.9 122858 0.2 KHK SLC5A6 ATRAID ABHD1 CGREF1 PREB TRIM54 UCN MPV17 LOC100129724
GH02F027085 1.1 Ensembl ENCODE 11 +125.5 125472 4.8 HDGF CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 KHK SLC5A6 ATRAID ABHD1 CGREF1 PREB TRIM54 UCN MPV17 LOC100129724
GH02F027091 1.1 Ensembl ENCODE 11 +118.8 118844 7.0 CREB3L1 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF143 PAF1 SP5 KHK EMILIN1 ABHD1 CGREF1 SLC5A6 ATRAID CAD PRR30 TCF23 PREB
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SLC5A6 on UCSC Golden Path with GeneCards custom track

Promoters for SLC5A6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000587069 658 2601 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 ZNF263 SP3

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

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

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.

Gene Ontology (GO) - Molecular Function for SLC5A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008523 sodium-dependent multivitamin transmembrane transporter activity IEA,TAS --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC5A6: view
genes like me logo Genes that share phenotypes with SLC5A6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC5A6

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9516450
GO:0012506 vesicle membrane IEA --
GO:0016020 membrane IEA,TAS 9516450
GO:0016021 integral component of 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:0006768 biotin metabolic process TAS --
GO:0006810 transport IEA,TAS 9516450
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0015878 biotin transport IBA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved Nutra Target 43
Gabapentin enacarbil Approved Pharma Transporter, substrate 0
Lipoic Acid Approved Nutra Target 0

(14) 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:

Inhibitory RNA Products

Flow Cytometry Products

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, MaxQB, and MOPED for SLC5A6 Gene



Protein tissue co-expression partners for SLC5A6 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC5A6 Gene:

SLC5A6

SOURCE GeneReport for Unigene cluster for SLC5A6 Gene:

Hs.435735
genes like me logo Genes that share expression patterns with SLC5A6: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia SLC5A6 34 35
  • 99.37 (n)
cow
(Bos Taurus)
Mammalia SLC5A6 34 35
  • 86.14 (n)
dog
(Canis familiaris)
Mammalia SLC5A6 34 35
  • 85.86 (n)
rat
(Rattus norvegicus)
Mammalia Slc5a6 34
  • 83.41 (n)
mouse
(Mus musculus)
Mammalia Slc5a6 34 16 35
  • 83.15 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC5A6 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC5A6 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC5A6 35
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC5A6 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc5a6 34
  • 71.55 (n)
zebrafish
(Danio rerio)
Actinopterygii SLC5A6 (2 of 2) 35
  • 65 (a)
OneToMany
si:dkey-5g7.3 34
  • 64.45 (n)
slc5a6 35
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10444 36 35
  • 40 (a)
CG32669 35
  • 35 (a)
OneToMany
CG6723 36
  • 33 (a)
CG8934 36
  • 33 (a)
CG8966 36
  • 33 (a)
CG2187 36
  • 32 (a)
CG2191 36
  • 32 (a)
CG8451 36
  • 32 (a)
CG2196 36
  • 31 (a)
CG5687 36
  • 31 (a)
CG9657 36
  • 30 (a)
CG7720 36
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK822.5 36
  • 31 (a)
F52H2.4 36
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToOne
Species where no ortholog for SLC5A6 was found in the sources mined by GeneCards:
  • 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
rs1006898 -- 27,201,628(-) CAAAG(C/T)CCTCC intron-variant
rs1008670 -- 27,204,613(-) CTCCT(C/T)CTGGC intron-variant
rs10178019 -- 27,211,254(+) GCCAG(C/T)TAAAC intron-variant, upstream-variant-2KB
rs10638396 -- 27,202,521(+) TCTCA(-/AAAAA)AAAAA intron-variant
rs1064845 -- 27,201,735(-) GTCCA(A/G)CTTCT nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv833603 CNV loss 17160897

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC5A6

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

Disorders for SLC5A6 Gene

MalaCards: The human disease database

(3) 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
basal ganglia disease
  • basal ganglia disorders
- 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 22 64
  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 22 25 64
  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 22 25 64
  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 22 25 64
  5. Molecular and functional characterization of the intestinal Na+- dependent multivitamin transporter. (PMID: 10334869) Prasad P.D. … Ganapathy V. (Arch. Biochem. Biophys. 1999) 3 4 25 64

Products for SLC5A6 Gene

Sources for SLC5A6 Gene

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