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Aliases for SLC47A1 Gene

Aliases for SLC47A1 Gene

  • Solute Carrier Family 47 Member 1 2 3 4 5
  • Solute Carrier Family 47 (Multidrug And Toxin Extrusion), Member 1 2 3
  • Multidrug And Toxin Extrusion 1 2 3
  • HMATE-1 3 4
  • MATE-1 3 4
  • MATE1 3 4
  • Multidrug And Toxin Extrusion Protein 1 3

External Ids for SLC47A1 Gene

Previous GeneCards Identifiers for SLC47A1 Gene

  • GC17P019378
  • GC17P019437
  • GC17P018816
  • GC17P019398

Summaries for SLC47A1 Gene

Entrez Gene Summary for SLC47A1 Gene

  • This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC47A1 Gene

SLC47A1 (Solute Carrier Family 47 Member 1) is a Protein Coding gene. Diseases associated with SLC47A1 include Smith-Magenis Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Metformin Pathway, Pharmacokinetics. GO annotations related to this gene include antiporter activity and monovalent cation:proton antiporter activity. An important paralog of this gene is SLC47A2.

UniProtKB/Swiss-Prot for SLC47A1 Gene

  • Solute transporter for tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine, N-methylnicotinamide (NMN), metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate, acyclovir, ganciclovir and also the zwitterionic cephalosporin, cephalexin and cephradin. Seems to also play a role in the uptake of oxaliplatin (a new platinum anticancer agent). Able to transport paraquat (PQ or N,N-dimethyl-4-4-bipiridinium); a widely used herbicid. Responsible for the secretion of cationic drugs across the brush border membranes.

Gene Wiki entry for SLC47A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC47A1 Gene

Genomics for SLC47A1 Gene

Regulatory Elements for SLC47A1 Gene

Enhancers for SLC47A1 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
GH17G019537 1.2 ENCODE dbSUPER 32 +43.0 43044 2.1 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 SP5 MXD4 SLC47A1 SNORA59B TRW-CCA2-1
GH17G019533 0.9 ENCODE 37.1 +38.7 38729 2.2 TBP ARID4B ZNF76 SIN3A DMAP1 ZNF48 RARA YY1 GLIS2 SCRT2 SLC47A1 ZNF286B ENSG00000252349 SNORA59B TRW-CCA2-1
GH17G019519 0.8 ENCODE 25.4 +24.2 24246 0.7 BCOR ESRRA FOXA2 TAL1 ARID4B TCF12 FOXM1 GATA2 NCOR1 RNF2 SLC47A1 SNORA59B ENSG00000252349 TRW-CCA2-1
GH17G019520 0.8 Ensembl 24.9 +24.9 24916 0.6 BCOR HDAC1 ESRRA FOXA2 TAL1 ARID4B TCF12 FOXM1 GATA2 NCOR1 SLC47A1 SNORA59B ENSG00000252349 TRW-CCA2-1
GH17G019726 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +232.4 232436 3.1 NFIB RAD21 YY1 ZNF23 RCOR1 EGR2 ZNF263 ZNF362 USF2 ZNF491 ENSG00000252349 ALDH3A2 SLC47A1 SLC47A2 ALDH3A1 MAPK7 ENSG00000264785 ENSG00000262681
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC47A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC47A1 Gene

Chromosome:
17
Start:
19,495,385 bp from pter
End:
19,579,034 bp from pter
Size:
83,650 bases
Orientation:
Plus strand

Genomic View for SLC47A1 Gene

Genes around SLC47A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC47A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC47A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC47A1 Gene

Proteins for SLC47A1 Gene

  • Protein details for SLC47A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FL8-S47A1_HUMAN
    Recommended name:
    Multidrug and toxin extrusion protein 1
    Protein Accession:
    Q96FL8
    Secondary Accessions:
    • Q53HF5
    • Q6PD77
    • Q86VL4
    • Q9NVA3

    Protein attributes for SLC47A1 Gene

    Size:
    570 amino acids
    Molecular mass:
    61922 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH50592.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC47A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC47A1 Gene

Post-translational modifications for SLC47A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC47A1 Gene

No data available for DME Specific Peptides for SLC47A1 Gene

Domains & Families for SLC47A1 Gene

Gene Families for SLC47A1 Gene

Protein Domains for SLC47A1 Gene

Suggested Antigen Peptide Sequences for SLC47A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96FL8

UniProtKB/Swiss-Prot:

S47A1_HUMAN :
  • Belongs to the multi antimicrobial extrusion (MATE) (TC 2.A.66.1) family.
Family:
  • Belongs to the multi antimicrobial extrusion (MATE) (TC 2.A.66.1) family.
genes like me logo Genes that share domains with SLC47A1: view

Function for SLC47A1 Gene

Molecular function for SLC47A1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.38 mM for TEA {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; KM=0.10 mM for MPP {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; KM=0.17 mM for cimetidine {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; KM=0.78 mM for metformin {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; KM=2.1 mM for guanidine {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; KM=1.23 mM for procainamide {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; KM=0.07 mM for topotecan {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; KM=0.47 mM for estrone sulfate {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; KM=2.64 mM for acyclovir {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; KM=5.12 mM for ganciclovir {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; Vmax=1.185 nmol/min/mg enzyme toward TEA {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; Vmax=0.735 nmol/min/mg enzyme toward MPP {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; Vmax=0.135 nmol/min/mg enzyme toward cimetidine {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; Vmax=2.23 nmol/min/mg enzyme toward metformin {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; Vmax=0.89 nmol/min/mg enzyme toward guanidine {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; Vmax=3.78 nmol/min/mg enzyme toward procainamide {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; Vmax=0.21 nmol/min/mg enzyme toward topotecan {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; Vmax=0.265 nmol/min/mg enzyme toward estrone sulfate {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; Vmax=0.62 nmol/min/mg enzyme toward acyclovir {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; Vmax=1.08 nmol/min/mg enzyme toward ganciclovir {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534}; pH dependence: Optimum pH is 8.5. Active from pH 6 to 8.5. {ECO:0000269 PubMed:16330770, ECO:0000269 PubMed:17509534};
UniProtKB/Swiss-Prot Function:
Solute transporter for tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine, N-methylnicotinamide (NMN), metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate, acyclovir, ganciclovir and also the zwitterionic cephalosporin, cephalexin and cephradin. Seems to also play a role in the uptake of oxaliplatin (a new platinum anticancer agent). Able to transport paraquat (PQ or N,N-dimethyl-4-4-bipiridinium); a widely used herbicid. Responsible for the secretion of cationic drugs across the brush border membranes.

Gene Ontology (GO) - Molecular Function for SLC47A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005451 monovalent cation:proton antiporter activity IEA --
GO:0015238 drug transmembrane transporter activity IEA --
GO:0015297 antiporter activity IEA --
GO:0015307 drug:proton antiporter activity TAS --
genes like me logo Genes that share ontologies with SLC47A1: view
genes like me logo Genes that share phenotypes with SLC47A1: view

Animal Models for SLC47A1 Gene

MGI Knock Outs for SLC47A1:

Animal Model Products

CRISPR Products

miRNA for SLC47A1 Gene

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC47A1 Gene

Localization for SLC47A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC47A1 Gene

Cell membrane; Multi-pass membrane protein. Note=Predominantly localized at the plasma membrane but also found in intracellular organelles.

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 SLC47A1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SLC47A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031982 vesicle IEA --
genes like me logo Genes that share ontologies with SLC47A1: view

Pathways & Interactions for SLC47A1 Gene

genes like me logo Genes that share pathways with SLC47A1: view

Gene Ontology (GO) - Biological Process for SLC47A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006855 drug transmembrane transport IEA --
GO:0015695 organic cation transport IEA --
GO:0015893 drug transport IEA --
GO:0046618 drug export IEA --
genes like me logo Genes that share ontologies with SLC47A1: view

No data available for SIGNOR curated interactions for SLC47A1 Gene

Drugs & Compounds for SLC47A1 Gene

(11) Drugs for SLC47A1 Gene - From: DrugBank, PharmGKB, DGIdb, and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Metformin Approved Pharma Transporter, inhibitor AMP-activated protein kinase (AMPK) activator 1803
Cimetidine Approved Pharma Inhibition, Inhibitor, antagonist, Transporter, inhibitor H2 receptor antagonist, H2 antagonist, I1 agonist 75
Pyrimethamine Approved, Vet_approved Pharma Inhibition, Inhibitor, inhibitor DHFR inhibitor 157
Aciclovir Approved Pharma Transporter, substrate 0
Bromodiphenhydramine Approved Pharma Transporter, inhibitor 0
genes like me logo Genes that share compounds with SLC47A1: view

Transcripts for SLC47A1 Gene

Unigene Clusters for SLC47A1 Gene

Solute carrier family 47, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC47A1 Gene

No ASD Table

Relevant External Links for SLC47A1 Gene

GeneLoc Exon Structure for
SLC47A1
ECgene alternative splicing isoforms for
SLC47A1

Expression for SLC47A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC47A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC47A1 Gene

This gene is overexpressed in Adrenal Gland (x11.7), Liver (x8.2), Kidney - Cortex (x4.8), and Muscle - Skeletal (x4.2).

Protein differential expression in normal tissues from HIPED for SLC47A1 Gene

This gene is overexpressed in Adrenal (64.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC47A1 Gene



Protein tissue co-expression partners for SLC47A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC47A1 Gene:

SLC47A1

SOURCE GeneReport for Unigene cluster for SLC47A1 Gene:

Hs.232054

mRNA Expression by UniProt/SwissProt for SLC47A1 Gene:

Q96FL8-S47A1_HUMAN
Tissue specificity: Expressed in adrenal gland, and to a lower extent in liver, skeletal muscle and kidney (especially found in luminal membranes of the urinary tubules, bile caniculi and brush border membranes).

Evidence on tissue expression from TISSUES for SLC47A1 Gene

  • Nervous system(4.3)
  • Intestine(4.2)
  • Eye(4.1)
  • Kidney(3.5)
  • Liver(3.2)
genes like me logo Genes that share expression patterns with SLC47A1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC47A1 Gene

Orthologs for SLC47A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC47A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC47A1 34 35
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia SLC47A1 34 35
  • 81.72 (n)
mouse
(Mus musculus)
Mammalia Slc47a1 34 16 35
  • 80.83 (n)
rat
(Rattus norvegicus)
Mammalia Slc47a1 34
  • 80.33 (n)
cow
(Bos Taurus)
Mammalia SLC47A1 34 35
  • 79.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC47A1 35
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC47A1 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC47A1 35
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC47A1 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498310 34
  • 58.79 (n)
zebrafish
(Danio rerio)
Actinopterygii SLC47A1 (4 of 6) 35
  • 48 (a)
OneToMany
slc47a2 35
  • 48 (a)
OneToMany
BX248108.1 35
  • 45 (a)
OneToMany
SLC47A1 (5 of 6) 35
  • 41 (a)
OneToMany
SLC47A1 (3 of 6) 35
  • 40 (a)
OneToMany
slc47a1 35
  • 38 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL099W 34
  • 44.71 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A06952g 34
  • 41.28 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YDR338C 34
  • 41.14 (n)
-- 35
  • 19 (a)
ManyToMany
ERC1 35
  • 19 (a)
ManyToMany
-- 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G52450 34
  • 44.52 (n)
rice
(Oryza sativa)
Liliopsida Os06g0495500 34
  • 47.17 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07720 34
  • 47.05 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC4B3.13 34
  • 44.8 (n)
Species where no ortholog for SLC47A1 was found in the sources mined by GeneCards:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC47A1 Gene

ENSEMBL:
Gene Tree for SLC47A1 (if available)
TreeFam:
Gene Tree for SLC47A1 (if available)

Paralogs for SLC47A1 Gene

Paralogs for SLC47A1 Gene

(1) SIMAP similar genes for SLC47A1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for SLC47A1 Gene

genes like me logo Genes that share paralogs with SLC47A1: view

Variants for SLC47A1 Gene

Sequence variations from dbSNP and Humsavar for SLC47A1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000015147 -- 19,547,264(+) GTCTC(A/G)AACTC intron-variant
rs1000017537 -- 19,546,063(+) AAAAA(C/T)ACAAA intron-variant
rs1000100362 -- 19,535,018(+) AGTGG(C/G)GGCTC intron-variant
rs1000156855 -- 19,554,417(+) CTCCA(C/T)GCGAG intron-variant
rs1000211065 -- 19,559,227(+) GATAA(A/T)GTGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC47A1 Gene

Variant ID Type Subtype PubMed ID
esv3582561 CNV loss 25503493
esv3640173 CNV loss 21293372
esv3640175 CNV loss 21293372
nsv1061317 CNV gain 25217958
nsv1061408 CNV gain 25217958
nsv1160463 CNV duplication 26073780
nsv428337 CNV loss 18775914

Variation tolerance for SLC47A1 Gene

Residual Variation Intolerance Score: 45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC47A1 Gene

Human Gene Mutation Database (HGMD)
SLC47A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC47A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC47A1 Gene

Disorders for SLC47A1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC47A1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • 17p11.2 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC47A1

Genetic Association Database (GAD)
SLC47A1
Human Genome Epidemiology (HuGE) Navigator
SLC47A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC47A1
genes like me logo Genes that share disorders with SLC47A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC47A1 Gene

Publications for SLC47A1 Gene

  1. The MATE proteins as fundamental transporters of metabolic and xenobiotic organic cations. (PMID: 16996621) Omote H. … Moriyama Y. (Trends Pharmacol. Sci. 2006) 2 3 4 64
  2. A human transporter protein that mediates the final excretion step for toxic organic cations. (PMID: 16330770) Otsuka M. … Moriyama Y. (Proc. Natl. Acad. Sci. U.S.A. 2005) 2 3 4 64
  3. Heterozygous variants of multidrug and toxin extrusions (MATE1 and MATE2-K) have little influence on the disposition of metformin in diabetic patients. (PMID: 20016398) Toyama K. … Inui K. (Pharmacogenet. Genomics 2010) 3 46 64
  4. Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program. (PMID: 20682687) Jablonski K.A. … Florez J.C. (Diabetes 2010) 3 46 64
  5. Interaction between polymorphisms in the OCT1 and MATE1 transporter and metformin response. (PMID: 19898263) Becker M.L. … Stricker B.H. (Pharmacogenet. Genomics 2010) 3 46 64

Products for SLC47A1 Gene

Sources for SLC47A1 Gene

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