SLC22A8 solute carrier family 22 member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC22A8provided by HGNC
Official Full Name: solute carrier family 22 member 8provided by HGNC
Primary source: HGNC:HGNC:10972
See related: Ensembl:ENSG00000149452 MIM:607581; AllianceGenome:HGNC:10972
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: OAT3
Summary: This gene encodes a protein involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, May 2010]
Expression: Restricted expression toward kidney (RPKM 184.6) See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62992824..63015841, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62982101..63005127, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62760296..62783313, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

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.
Investigation of the arcane inhibition of human organic anion transporter 3 by benzofuran antiarrhythmic agents.
Title: Investigation of the arcane inhibition of human organic anion transporter 3 by benzofuran antiarrhythmic agents.
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.
these results provided first demonstration that Senp2 is a significant regulator for OAT3-mediated organic anion/drug transport
Title: The SUMO-Specific Protease Senp2 Regulates SUMOylation, Expression and Function of Human Organic Anion Transporter 3.
Study demonstrated for the first time that PKA stimulated OAT3 expression and transport activity by altering the trafficking kinetics of OAT3 possibly through the crosstalk between SUMOylation and ubiquitination. OAT3 is subjected to post-translational modification by SUMO-2 and SUMO-3 not by SUMO-1.
Title: Activation of Protein Kinase A Stimulates SUMOylation, Expression, and Transport Activity of Organic Anion Transporter 3.
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.
Sgk1 stimulated OAT3 transport activity by interfering with the inhibitory effect of Nedd4-2 on the transporter. This study provides important insights into how OAT3-mediated drug elimination is regulated in vivo.
Title: SGK1/Nedd4-2 signaling pathway regulates the activity of human organic anion transporters 3.
is richly expressed in the kidney, where it plays critical roles in the secretion, from the blood to urine, of clinically important drugs.
Title: The activity of organic anion transporter-3: Role of dexamethasone.

Submit: New GeneRIF Correction See all GeneRIFs (42)

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

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

WI-14966 (e-PCR)
- UniSTS:3077

D11S4404 (e-PCR)
- UniSTS:1587

SHGC-105128 (e-PCR)
- UniSTS:182351

SLC22A8_2492 (e-PCR)
- UniSTS:463314

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables organic anion transmembrane transporter activity	IDA Inferred from Direct Assay 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 solute:inorganic anion antiporter 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 inorganic anion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in organic anion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in prostaglandin transport	IDA Inferred from Direct Assay more info	PubMed
involved_in response to toxic substance	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in xenobiotic transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: organic anion transporter 3

Names: hOAT3; organic anion/dicarboxylate exchanger; solute carrier family 22 (organic anion transporter), member 8

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_001184732.2 → NP_001171661.1 organic anion transporter 3 isoform 1

See identical proteins and their annotated locations for NP_001171661.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses a different splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).

Source sequence(s)

AB042505, AK313187, BC022387, DA628705, DA633836

Consensus CDS

CCDS8042.1

UniProtKB/Swiss-Prot

B4DPH7, F5GWA8, F5H5J1, O95820, Q59EW9, Q8TCC7, Q96TC1

UniProtKB/TrEMBL

B2R807

Related

ENSP00000398548.2, ENST00000430500.6

Conserved Domains (2) summary

cd06174
Location:96 → 493

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 → 503

2A0119; cation transport protein
NM_001184733.2 → NP_001171662.1 organic anion transporter 3 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses a different splice site and lacks a portion of the 5' coding region, with the result of translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform 2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AB042505, AK298341, BP276255, DA628705

Consensus CDS

CCDS53644.1

UniProtKB/TrEMBL

B4DPI4

Related

ENSP00000441658.1, ENST00000545207.5

Conserved Domains (2) summary

cd06174
Location:33 → 402

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 ...

pfam00083
Location:9 → 411

Sugar_tr; Sugar (and other) transporter
NM_001184736.2 → NP_001171665.1 organic anion transporter 3 isoform 3

See identical proteins and their annotated locations for NP_001171665.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region and uses a downstream start codon, compared to variant 1. Isoform 3 has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AB042505, AK307850, BC022387, DA628705

Consensus CDS

CCDS53643.1

UniProtKB/Swiss-Prot

Q8TCC7

Related

ENSP00000443368.1, ENST00000535878.5

Conserved Domains (1) summary

cd06174
Location:1 → 370

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 ...
NM_004254.4 → NP_004245.2 organic anion transporter 3 isoform 1

See identical proteins and their annotated locations for NP_004245.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein (isoform 1).

Source sequence(s)

AB042505, BC022387, DA628705

Consensus CDS

CCDS8042.1

UniProtKB/Swiss-Prot

B4DPH7, F5GWA8, F5H5J1, O95820, Q59EW9, Q8TCC7, Q96TC1

UniProtKB/TrEMBL

B2R807

Related

ENSP00000337335.2, ENST00000336232.7

Conserved Domains (2) summary

cd06174
Location:96 → 493

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 → 503

2A0119; cation transport protein