SLC22A6 solute carrier family 22 member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC22A6provided by HGNC
Official Full Name: solute carrier family 22 member 6provided by HGNC
Primary source: HGNC:HGNC:10970
See related: Ensembl:ENSG00000197901 MIM:607582; AllianceGenome:HGNC:10970
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OAT1; PAHT; HOAT1; ROAT1
Summary: The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward kidney (RPKM 150.9) See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62976597..62984967, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62965855..62974245, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62744069..62752439, complement)

Chromosome 11 - NC_000011.10 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The kidney drug transporter OAT1 regulates gut microbiome-dependent host metabolism.
Title: The kidney drug transporter OAT1 regulates gut microbiome-dependent host metabolism.
Drug transporters OAT1 and OAT3 have specific effects on multiple organs and gut microbiome as revealed by contextualized metabolic network reconstructions.
Title: Drug transporters OAT1 and OAT3 have specific effects on multiple organs and gut microbiome as revealed by contextualized metabolic network reconstructions.
Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort.
Title: Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort.
Genetic Diversity in Drug Transporters: Impact in African Populations.
Title: Genetic Diversity in Drug Transporters: Impact in African Populations.
Ubiquitin-specific peptidase 8 regulates the trafficking and stability of the human organic anion transporter 1.
Title: Ubiquitin-specific peptidase 8 regulates the trafficking and stability of the human organic anion transporter 1.
Estrogen receptor alpha (ERalpha) indirectly induces transcription of human renal organic anion transporter 1 (OAT1).
Title: Estrogen receptor α (ERα) indirectly induces transcription of human renal organic anion transporter 1 (OAT1).
Coadministration of vindesine with high-dose methotrexate therapy increases acute kidney injury via BCRP, MRP2, and OAT1/OAT3.
Title: Coadministration of vindesine with high-dose methotrexate therapy increases acute kidney injury via BCRP, MRP2, and OAT1/OAT3.
results indicate an increased alpha-ketoglutarate efflux by OAT1 and OAT3, resulting in a metabolic shift towards an oxidative phenotype
Title: Organic anion transporters 1 and 3 influence cellular energy metabolism in renal proximal tubule cells.
An OAT1 SNP might be clinically associated with Chronic kidney disease.
Title: A novel SNP in the 5' regulatory region of organic anion transporter 1 is associated with chronic kidney disease.
Endogenous metabolite-mediated communication between OAT1/OAT3 and OATP1B1 may explain the association between SLCO1B1 SNPs and methotrexate toxicity.
Title: Endogenous Metabolites-Mediated Communication Between OAT1/OAT3 and OATP1B1 May Explain the Association Between SLCO1B1 SNPs and Methotrexate Toxicity.

Submit: New GeneRIF Correction See all GeneRIFs (61)

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-ketoglutarate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride ion binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables organic anion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables organic anion transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables organic anion transmembrane transporter activity	TAS Traceable Author Statement more info
enables prostaglandin transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium-independent organic anion transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium-independent organic anion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables solute:inorganic anion antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables xenobiotic transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in alpha-ketoglutarate transport	IDA Inferred from Direct Assay more info	PubMed
involved_in inorganic anion transport	IEA Inferred from Electronic Annotation more info
involved_in metanephric proximal tubule development	IEA Inferred from Electronic Annotation more info
involved_in monoatomic anion transport	IEA Inferred from Electronic Annotation more info
involved_in organic anion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in organic anion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in organic anion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in prostaglandin transport	IDA Inferred from Direct Assay more info	PubMed
involved_in renal tubular secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in renal tubular secretion	NAS Non-traceable Author Statement more info	PubMed
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in sodium-independent organic anion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium-independent organic anion transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basal plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in caveola	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: solute carrier family 22 member 6

Names: PAH transporter; hPAHT; hROAT1; organic anion transporter 1; para-aminohippurate transporter; renal organic anion transporter 1; solute carrier family 22 (organic anion transporter), member 6

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_004790.5 → NP_004781.2 solute carrier family 22 member 6 isoform a

See identical proteins and their annotated locations for NP_004781.2

Status: REVIEWED

Description

Transcript Variant: This variant (1, also called hOAT1-1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AB009697, AI017670, DA629600

Consensus CDS

CCDS31591.1

UniProtKB/Swiss-Prot

A8MY93, B2D0R6, O95187, O95742, Q4U2R8, Q7LDA0, Q8N192, Q9NQA6, Q9NQC2, Q9UBG6, Q9UEQ8

UniProtKB/TrEMBL

B3KRM3

Related

ENSP00000367102.3, ENST00000377871.7

Conserved Domains (2) summary

cd06174
Location:135 → 505

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00898
Location:11 → 515

2A0119; cation transport protein
NM_153276.3 → NP_695008.1 solute carrier family 22 member 6 isoform b

See identical proteins and their annotated locations for NP_695008.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also called OAT1-2) lacks an alternate in-frame segment compared to variant 1, resulting in a shorter isoform (b) compared to isoform a.

Source sequence(s)

BC033682

Consensus CDS

CCDS8041.1

UniProtKB/TrEMBL

B3KRM3

Related

ENSP00000353597.4, ENST00000360421.9

Conserved Domains (1) summary

TIGR00898
Location:11 → 515

2A0119; cation transport protein
NM_153277.3 → NP_695009.1 solute carrier family 22 member 6 isoform c

See identical proteins and their annotated locations for NP_695009.1

Status: REVIEWED

Description

Transcript Variant: This variant (3, also called OAT1-3) lacks two alternate in-frame segments compared to variant 1, resulting in a shorter isoform (c) compared to isoform a.

Source sequence(s)

AI017670, AJ251529, DA628191, DB320467

Consensus CDS

CCDS44632.1

UniProtKB/TrEMBL

B3KRM3

Related

ENSP00000396401.2, ENST00000458333.6

Conserved Domains (2) summary

cd06174
Location:135 → 456

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00898
Location:11 → 471

2A0119; cation transport protein
NM_153278.3 → NP_695010.1 solute carrier family 22 member 6 isoform d

See identical proteins and their annotated locations for NP_695010.1

Status: REVIEWED

Description

Transcript Variant: This variant (4, also called OAT1-4) lacks an alternate in-frame segment compared to variant 1, resulting in a shorter isoform (d) compared to isoform a.

Source sequence(s)

AB009697, AI017670, AJ271205, DA628191

Consensus CDS

CCDS44631.1

UniProtKB/TrEMBL

B3KRM3

Related

ENSP00000404441.2, ENST00000421062.2

Conserved Domains (2) summary

cd06174
Location:135 → 456

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00898
Location:11 → 471

2A0119; cation transport protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

62976597..62984967 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017018562.3 → XP_016874051.1 solute carrier family 22 member 6 isoform X1

UniProtKB/TrEMBL

B3KRM3

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

62965855..62974245 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054370531.1 → XP_054226506.1 solute carrier family 22 member 6 isoform X1

UniProtKB/TrEMBL

B3KRM3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_153279.1: Suppressed sequence

Description

NM_153279.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.