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] See more...

Aliases for SLC47A1 Gene

Aliases for SLC47A1 Gene

  • Solute Carrier Family 47 Member 1 2 3 4 5
  • MATE1 2 3 4
  • Solute Carrier Family 47 (Multidrug And Toxin Extrusion), Member 1 2 3
  • Multidrug And Toxin Extrusion Protein 1 3 4
  • Multidrug And Toxin Extrusion 1 2 3
  • HMATE-1 3 4
  • MATE-1 3 4
  • FLJ10847 2
  • SLC47A1 5

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 and Cardiac Valvular Dysplasia, X-Linked. Among its related pathways are Atenolol Pathway, Pharmacokinetics and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for SLC47A1 Gene

Genomics for SLC47A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC47A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J019533 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 287.1 +38.7 38718 2.2 EZH2 ZIC2 YY1 ZNF341 SAP130 RARA DMAP1 GABPB1 DRAP1 TBP SLC47A1 HSALNG0115138 hsa-miR-5095-217 ENSG00000252349 ZNF286B ALDH3A2
GH17J019495 Promoter 0.5 EPDnew 250.7 0.0 -16 0.1 CREM ATF1 ENSG00000235979 SLC47A1 RPL17P43 lnc-SLC47A1-5 LOC112268205 RNF112
GH17J019494 Enhancer 0.3 Ensembl 250.7 -0.7 -684 1 CREM ATF1 ENSG00000235979 SLC47A1 lnc-SLC47A1-5 LOC112268205 RNF112
GH17J019496 Enhancer 0.2 Ensembl 250.7 +0.8 807 0.8 ENSG00000235979 SLC47A1 RPL17P43 RNF112 lnc-SLC47A1-5 LOC112268205 ALDH3A2
GH17J019537 Enhancer 1.1 ENCODE dbSUPER 32 +43.0 43044 2.1 SSRP1 CEBPA YY1 MXD4 CEBPB HOMEZ KMT2B THAP11 FOXA2 KDM6A SLC47A1 MAPK7 AKAP10 hsa-miR-5095-217 piR-50444-169 ALDH3A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC47A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC47A1

Top Transcription factor binding sites by QIAGEN in the SLC47A1 gene promoter:
  • AP-1
  • AP-4
  • ARP-1
  • Bach1
  • Bach2
  • c-Myc
  • C/EBPalpha
  • CHOP-10
  • Max1
  • SEF-1 (1)

Genomic Locations for SLC47A1 Gene

Latest Assembly
chr17:19,495,385-19,579,034
(GRCh38/hg38)
Size:
83,650 bases
Orientation:
Plus strand

Previous Assembly
chr17:19,437,167-19,482,347
(GRCh37/hg19 by Entrez Gene)
Size:
45,181 bases
Orientation:
Plus strand

chr17:19,398,698-19,482,347
(GRCh37/hg19 by Ensembl)
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

Protein Domains for SLC47A1 Gene

InterPro:
Blocks:
  • Multi antimicrobial extrusion protein MatE

Suggested Antigen Peptide Sequences for SLC47A1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58865 (B4DYV3_HUMAN)
  • cDNA FLJ51200 (B4E3B2_HUMAN)
  • Solute carrier family 47 member 1 (S47A1_HUMAN)

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 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.
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};

Phenotypes From GWAS Catalog for SLC47A1 Gene

Gene Ontology (GO) - Molecular Function for SLC47A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0015179 L-amino acid transmembrane transporter activity IMP 23864433
GO:0015297 antiporter activity IEA --
GO:0022857 transmembrane transporter activity IBA 21873635
GO:0042887 amide transmembrane transporter activity IEA --
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:

miRNA for SLC47A1 Gene

miRTarBase miRNAs that target SLC47A1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC47A1

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
mitochondrion 2
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

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,IBA 21873635
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IDA 31791063
GO:0016324 apical plasma membrane IDA 31791063
genes like me logo Genes that share ontologies with SLC47A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC47A1 Gene

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:0006812 cation transport IEA --
GO:0015695 organic cation transport IEA,IBA 21873635
GO:0042886 amide transport IEA --
GO:0042908 xenobiotic transport IMP 23864433
GO:0055085 transmembrane transport TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyrimethamine Approved, Investigational, Vet_approved Pharma Inhibitor, Inhibition, Transporter DHFR inhibitor, Potent inhibitor of multidrug and toxin extrusion (MATE) transporters; also DHFR and STAT3 inhibitor 179
Cimetidine Approved, Investigational Pharma Transporter, substrate, inhibitor, antagonist H2 receptor antagonist 113
Metformin Approved Pharma Transporter, substrate AMP-activated protein kinase (AMPK) activator 2304
abemaciclib Approved, Investigational Pharma Transporter, inhibitor 0
Acyclovir Approved Pharma Transporter, substrate 124
genes like me logo Genes that share compounds with SLC47A1: view

Transcripts for SLC47A1 Gene

mRNA/cDNA for SLC47A1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
14 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 SLC47A1

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

No ASD Table

Relevant External Links for SLC47A1 Gene

GeneLoc Exon Structure for
SLC47A1

Expression for SLC47A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SLC47A1 Gene



Protein tissue co-expression partners for SLC47A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Intestine(4.4)
  • Eye(4.2)
  • Kidney(3.5)
  • Liver(3.4)
  • Adrenal gland(2.6)
  • Urine(2.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with SLC47A1: view

Primer products for research

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 29 30
  • 99.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC47A1 29 30
  • 81.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc47a1 29 16 30
  • 80.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc47a1 29
  • 80.33 (n)
Cow
(Bos Taurus)
Mammalia SLC47A1 29 30
  • 79.52 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC47A1 30
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC47A1 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC47A1 30
  • 52 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC47A1 30
  • 51 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100498310 29
  • 58.79 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc47a2 30
  • 48 (a)
OneToMany
SLC47A1 (4 of 6) 30
  • 48 (a)
OneToMany
BX248108.1 30
  • 45 (a)
OneToMany
SLC47A1 (5 of 6) 30
  • 41 (a)
OneToMany
SLC47A1 (3 of 6) 30
  • 40 (a)
OneToMany
slc47a1 30
  • 38 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AEL099W 29
  • 44.71 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A06952g 29
  • 41.28 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YDR338C 29
  • 41.14 (n)
ERC1 30
  • 19 (a)
ManyToMany
-- 30
  • 19 (a)
ManyToMany
-- 32
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G52450 29
  • 44.52 (n)
Rice
(Oryza sativa)
Liliopsida Os06g0495500 29
  • 47.17 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU07720 29
  • 47.05 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC4B3.13 29
  • 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC47A1: view image
Alliance of Genome Resources:
Additional Orthologs for SLC47A1

Paralogs for SLC47A1 Gene

Paralogs for SLC47A1 Gene

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

  • S47A1_HUMAN
  • B4DYV3_HUMAN
  • E7EX57_HUMAN
  • I3L345_HUMAN
  • J3KRZ3_HUMAN
  • J3KSS8_HUMAN

Pseudogenes.org Pseudogenes for SLC47A1 Gene

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

Variants for SLC47A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC47A1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs116464617 Benign: not provided 19,555,821(+) C/T
NM_018242.3(SLC47A1):c.765C>T (p.Asp255=)
SYNONYMOUS
rs1276389138 Likely Benign: not provided 19,555,289(+) T/C
NM_018242.3(SLC47A1):c.621T>C (p.His207=)
SYNONYMOUS
rs34012597 Benign: not provided 19,546,467(+) C/T
NM_018242.3(SLC47A1):c.270C>T (p.Phe90=)
SYNONYMOUS
rs35395280 Benign: not provided 19,577,330(+) G/T
NM_018242.3(SLC47A1):c.1490G>T (p.Cys497Phe)
MISSENSE
rs35790011 -- p.Val338Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC47A1 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 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)

Additional Variant Information for SLC47A1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for SLC47A1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC47A1 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC47A1

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 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 in pharmacological sciences 2006) 2 3 4
  2. A human transporter protein that mediates the final excretion step for toxic organic cations. (PMID: 16330770) Otsuka M … Moriyama Y (Proceedings of the National Academy of Sciences of the United States of America 2005) 2 3 4
  3. Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program. (PMID: 20682687) Jablonski KA … Diabetes Prevention Program Research Group (Diabetes 2010) 3 40
  4. Interaction between polymorphisms in the OCT1 and MATE1 transporter and metformin response. (PMID: 19898263) Becker ML … Stricker BH (Pharmacogenetics and genomics 2010) 3 40
  5. 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 (Pharmacogenetics and genomics 2010) 3 40

Products for SLC47A1 Gene

Sources for SLC47A1 Gene