Aliases for SLC5A6 Gene

Aliases for SLC5A6 Gene

  • Solute Carrier Family 5 Member 6 2 3 4 5
  • SMVT 2 3 4
  • 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
  • Sodium-Dependent Multivitamin Transporter 3 4
  • Na(+)-Dependent Multivitamin Transporter 3 4
  • Na+-Dependent Multivitamin Transporter 3
  • SLC5A6 5
  • NERIB 3

External Ids for SLC5A6 Gene

Previous GeneCards Identifiers for SLC5A6 Gene

  • GC02M027343
  • GC02M027515
  • GC02M027396
  • GC02M027335
  • GC02M027276
  • GC02M027422
  • GC02M027164

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 Neurodegeneration, Infantile-Onset, Biotin-Responsive and Biotin Deficiency. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (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 Summary 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 , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC5A6 Gene

Genomics for SLC5A6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC5A6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC5A6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC5A6

Top Transcription factor binding sites by QIAGEN in the SLC5A6 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • CUTL1
  • MyoD
  • TFIID

Genomic Locations for SLC5A6 Gene

Latest Assembly
chr2:27,199,587-27,212,958
(GRCh38/hg38)
Size:
13,372 bases
Orientation:
Minus strand

Previous Assembly
chr2:27,422,455-27,435,136
(GRCh37/hg19 by Entrez Gene)
Size:
12,682 bases
Orientation:
Minus strand

chr2:27,422,455-27,435,826
(GRCh37/hg19 by Ensembl)
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

  • Glycosylation at Asn138, Asn489, and Asn498
  • Ubiquitination at Lys579 and Lys599
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC5A6 Gene

Domains & Families for SLC5A6 Gene

Gene Families for SLC5A6 Gene

Protein Domains for SLC5A6 Gene

InterPro:
Blocks:
  • Na+/solute symporter

Suggested Antigen Peptide Sequences for SLC5A6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ14949 fis, clone PLACE2000341, highly similar to Sodium-dependent multivitamin transporter (B3KNM2_HUMAN)
  • Solute carrier family 5 member 6 (SC5A6_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Transports pantothenate, biotin and lipoate in the presence of sodium.
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

Phenotypes From GWAS Catalog for SLC5A6 Gene

Gene Ontology (GO) - Molecular Function for SLC5A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008523 sodium-dependent multivitamin transmembrane transporter activity TAS,IBA 21873635
GO:0015225 biotin transmembrane transporter activity IMP 25809983
GO:0015233 pantothenate transmembrane transporter activity IMP 25809983
GO:0015293 symporter activity IBA 21873635
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC5A6: view
genes like me logo Genes that share phenotypes with SLC5A6: view

Human Phenotype Ontology for SLC5A6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC5A6 Gene

MGI Knock Outs for SLC5A6:
  • Slc5a6 Slc5a6<tm1a(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for SLC5A6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC5A6

Clone products for research

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC5A6 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

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:0009925 basal plasma membrane ISS 25809983
GO:0012506 vesicle membrane IEA --
GO:0016020 membrane IEA,TAS 9516450
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

Pathways by source for SLC5A6 Gene

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:0006811 ion transport IEA --
GO:0006814 sodium ion transport IBA 21873635
GO:0015878 biotin transport IBA 21873635
GO:0015887 pantothenate transmembrane transport IMP 25809983
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, Investigational Nutra Transporter, substrate 70
Gabapentin enacarbil Approved, Investigational Pharma Transporter, substrate 0
Lipoic acid Approved, Investigational Nutra Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
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

mRNA/cDNA for SLC5A6 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC5A6

Clone products for research

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

Expression for SLC5A6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for SLC5A6 Gene



Protein tissue co-expression partners for SLC5A6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC5A6

SOURCE GeneReport for Unigene cluster for SLC5A6 Gene:

Hs.435735

Evidence on tissue expression from TISSUES for SLC5A6 Gene

  • Nervous system(4.8)
  • Intestine(4.5)
  • Stomach(4)
  • Eye(2.3)
  • Liver(2.2)
genes like me logo Genes that share expression patterns with SLC5A6: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC5A6 29 30
  • 86.14 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC5A6 29 30
  • 85.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc5a6 29
  • 83.41 (n)
Mouse
(Mus musculus)
Mammalia Slc5a6 29 16 30
  • 83.15 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC5A6 30
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC5A6 30
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC5A6 30
  • 77 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC5A6 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc5a6 29
  • 71.55 (n)
Zebrafish
(Danio rerio)
Actinopterygii SLC5A6 (2 of 2) 30
  • 65 (a)
OneToMany
si:dkey-5g7.3 29
  • 64.45 (n)
slc5a6 30
  • 61 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG10444 30 31
  • 37 (a)
OneToMany
CG32669 30
  • 35 (a)
OneToMany
CG6723 31
  • 33 (a)
CG8934 31
  • 33 (a)
CG8966 31
  • 33 (a)
CG2187 31
  • 32 (a)
CG2191 31
  • 32 (a)
CG8451 31
  • 32 (a)
CG2196 31
  • 31 (a)
CG5687 31
  • 31 (a)
CG9657 31
  • 30 (a)
CG7720 31
  • 29 (a)
Worm
(Caenorhabditis elegans)
Secernentea ZK822.5 31
  • 31 (a)
F52H2.4 31
  • 28 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 48 (a)
OneToOne
Species where no ortholog for SLC5A6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC5A6: view image
Alliance of Genome Resources:
Additional Orthologs for SLC5A6

Paralogs for SLC5A6 Gene

(5) SIMAP similar genes for SLC5A6 Gene using alignment to 10 proteins:

  • SC5A6_HUMAN
  • B3KNM2_HUMAN
  • E7EMX0_HUMAN
  • E7ENG0_HUMAN
  • E7ENN0_HUMAN
  • E7EP02_HUMAN
  • E7ERE1_HUMAN
  • E7EW41_HUMAN
  • E7EW78_HUMAN
  • E7EXC0_HUMAN
genes like me logo Genes that share paralogs with SLC5A6: view

Variants for SLC5A6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC5A6 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
975021 Pathogenic: Neurodegeneration, infantile-onset, biotin-responsive 27,206,912(-) GCA/G
NM_021095.4(SLC5A6):c.422_423del (p.Val141fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
975022 Pathogenic: Neurodegeneration, infantile-onset, biotin-responsive 27,203,241(-) C/G
NM_021095.4(SLC5A6):c.1199G>C (p.Arg400Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
975023 Pathogenic: Neurodegeneration, infantile-onset, biotin-responsive 27,207,371(-) G/A
NM_021095.4(SLC5A6):c.280C>T (p.Arg94Ter)
NONSENSE,NON_CODING_TRANSCRIPT
975024 Pathogenic: Neurodegeneration, infantile-onset, biotin-responsive 27,207,283(-) C/A
NM_021095.4(SLC5A6):c.368G>T (p.Arg123Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
989311 Uncertain Significance: SLC5A6-related disorder 27,202,043(-) C/T
NM_021095.4(SLC5A6):c.1307G>A (p.Gly436Glu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC5A6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for SLC5A6 Gene

Human Gene Mutation Database (HGMD)
SLC5A6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC5A6
Leiden Open Variation Database (LOVD)
SLC5A6

SNP Genotyping and Copy Number Assays for research

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

Disorders for SLC5A6 Gene

MalaCards: The human disease database

(12) MalaCards diseases for SLC5A6 Gene - From: OMI, CVR, GTR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC5A6

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 PD (The Journal of biological chemistry 1999) 2 3 4 22
  2. Regulation of the human biotin transporter hSMVT promoter by KLF-4 and AP-2: confirmation of promoter activity in vivo. (PMID: 17135299) Reidling JC … Said HM (American journal of physiology. Cell physiology 2007) 3 22 25
  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 AK (Molecular pharmaceutics 2006) 3 22 25
  4. Characterization of the 5' regulatory region of the human sodium-dependent multivitamin transporter, hSMVT. (PMID: 11955628) Dey S … Said HM (Biochimica et biophysica acta 2002) 3 22 25
  5. Molecular and functional characterization of the intestinal Na+-dependent multivitamin transporter. (PMID: 10334869) Prasad PD … Ganapathy V (Archives of biochemistry and biophysics 1999) 3 4 25

Products for SLC5A6 Gene

Sources for SLC5A6 Gene