SLC47A1 solute carrier family 47 member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC47A1provided by HGNC
Official Full Name: solute carrier family 47 member 1provided by HGNC
Primary source: HGNC:HGNC:25588
See related: Ensembl:ENSG00000142494 MIM:609832; AllianceGenome:HGNC:25588
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MATE1
Summary: 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]
Expression: Biased expression in adrenal (RPKM 59.0), kidney (RPKM 50.0) and 6 other tissues See more
Orthologs: all
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Genomic context

Location:: 17p11.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (19533854..19579034)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (19482011..19527180)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (19437167..19482347)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The association study between changes in HbA1C with rs2250486 and rs67238751 genetic variants for SLC47A1 in newly diagnosed Iranian patients with type 2 diabetes mellitus: 6 months follow-up study.
Title: The association study between changes in HbA1C with rs2250486 and rs67238751 genetic variants for SLC47A1 in newly diagnosed Iranian patients with type 2 diabetes mellitus: 6 months follow-up study.
The lipid flippase SLC47A1 blocks metabolic vulnerability to ferroptosis.
Title: The lipid flippase SLC47A1 blocks metabolic vulnerability to ferroptosis.
Transport Turnover Rates for Human OCT2 and MATE1 Expressed in Chinese Hamster Ovary Cells.
Title: Transport Turnover Rates for Human OCT2 and MATE1 Expressed in Chinese Hamster Ovary Cells.
Rapid Regulation of Human Multidrug and Extrusion Transporters hMATE1 and hMATE2K.
Title: Rapid Regulation of Human Multidrug and Extrusion Transporters hMATE1 and hMATE2K.
Apical Shear Stress Enhanced Organic Cation Transport in Human OCT2/MATE1-Transfected Madin-Darby Canine Kidney Cells Involves Ciliary Sensing
Title: Apical Shear Stress Enhanced Organic Cation Transport in Human OCT2/MATE1-Transfected Madin-Darby Canine Kidney Cells Involves Ciliary Sensing.
The present data suggest that MATE1 contributes to renal elimination of trimethylamine-N-oxide.
Title: Contribution of multidrug and toxin extrusion protein 1 (MATE1) to renal secretion of trimethylamine-N-oxide (TMAO).
The studied SLC47A1 and SLC47A2 SNPs had no influence on the dose requirement or adverse effects of metformin.
Title: Lack of effect of the SLC47A1 and SLC47A2 gene polymorphisms on the glycemic response to metformin in type 2 diabetes mellitus patients.
genetic association studies in population in China: Data confirm that an SNP in an intron of SLC47A1 (rs2289669) is associated with hypoglycemic response to metformin in patients with newly diagnosed type 2 diabetes; differential increases in basal GLP1 plasma levels are also related to this SNP. (SLC47A1 = solute carrier family 47 member 1; GLP1 = glucagon-like peptide-1)
Title: Differential increments of basal glucagon-like-1 peptide concentration among SLC47A1 rs2289669 genotypes were associated with inter-individual variability in glycaemic response to metformin in Chinese people with newly diagnosed Type 2 diabetes.
The impact of assay conditions on IC50 determination is negligible, kinetic characteristics differ among used test substrates, and substrate-dependent inhibition exists for MATE1 and MATE2-K, giving valuable insight into the assessment of clinically relevant MATE-mediated drug interactions in vitro.
Title: Impact of Experimental Conditions on the Evaluation of Interactions between Multidrug and Toxin Extrusion Proteins and Candidate Drugs.
Pazopanib inhibits OCT2, MATE1 and MATE2-K, which are involved in cisplatin secretion into urine, potentiating cisplatin toxicity.
Title: Inhibition of OCT2, MATE1 and MATE2-K as a possible mechanism of drug interaction between pazopanib and cisplatin.

Submit: New GeneRIF Correction See all GeneRIFs (52)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

STS-W85883 (e-PCR)
- UniSTS:38781

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-amino acid transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables L-arginine transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables organic cation transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables polyspecific organic cation:proton antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables putrescine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables thiamine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane transporter activity	TAS Traceable Author Statement more info
enables xenobiotic transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables xenobiotic transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in L-alpha-amino acid transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in L-arginine import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in L-arginine transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in amino acid import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in organic cation transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in organic cation transport	IDA Inferred from Direct Assay more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in putrescine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in thiamine transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	TAS Traceable Author Statement more info
involved_in xenobiotic detoxification by transmembrane export across the plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: multidrug and toxin extrusion protein 1

Names: MATE-1; hMATE-1; multidrug and toxin extrusion 1; solute carrier family 47 (multidrug and toxin extrusion), member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_018242.3 → NP_060712.2 multidrug and toxin extrusion protein 1

See identical proteins and their annotated locations for NP_060712.2

Status: VALIDATED

Source sequence(s)

AC025627

Consensus CDS

CCDS11209.1

UniProtKB/Swiss-Prot

Q53HF5, Q6PD77, Q86VL4, Q96FL8, Q9NVA3

Related

ENSP00000270570.4, ENST00000270570.8

Conserved Domains (1) summary

cd13132
Location:34 → 468

MATE_eukaryotic; Eukaryotic members of the multidrug and toxic compound extrusion (MATE) family