SLC22A1 solute carrier family 22 member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC22A1provided by HGNC
Official Full Name: solute carrier family 22 member 1provided by HGNC
Primary source: HGNC:HGNC:10963
See related: Ensembl:ENSG00000175003 MIM:602607; AllianceGenome:HGNC:10963
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: OCT1; HOCT1; oct1_cds
Summary: Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward liver (RPKM 121.5) See more
Orthologs: all
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Genomic context

Location:: 6q25.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (160121815..160158718)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (161367910..161404908)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (160542847..160579750)

Chromosome 6 - NC_000006.12 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 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?

OCT1 (SLC22A1) transporter kinetics and regulation in primary human hepatocyte 3D spheroids.
Title: OCT1 (SLC22A1) transporter kinetics and regulation in primary human hepatocyte 3D spheroids.
The full spectrum of SLC22 OCT1 mutations illuminates the bridge between drug transporter biophysics and pharmacogenomics.
Title: The full spectrum of SLC22 OCT1 mutations illuminates the bridge between drug transporter biophysics and pharmacogenomics.
THOC7-AS1/OCT1/FSTL1 axis promotes EMT and serves as a therapeutic target in cutaneous squamous cell carcinoma.
Title: THOC7-AS1/OCT1/FSTL1 axis promotes EMT and serves as a therapeutic target in cutaneous squamous cell carcinoma.
Structural basis of promiscuous substrate transport by Organic Cation Transporter 1.
Title: Structural basis of promiscuous substrate transport by Organic Cation Transporter 1.
Pharmacogenetic impact of SLC22A1 gene variant rs628031 (G/A) in newly diagnosed Indian type 2 diabetes patients undergoing metformin monotherapy.
Title: Pharmacogenetic impact of SLC22A1 gene variant rs628031 (G/A) in newly diagnosed Indian type 2 diabetes patients undergoing metformin monotherapy.
The Role of SLC22A1 and Genomic Ancestry on Toxicity during Treatment in Children with Acute Lymphoblastic Leukemia of the Amazon Region.
Title: The Role of SLC22A1 and Genomic Ancestry on Toxicity during Treatment in Children with Acute Lymphoblastic Leukemia of the Amazon Region.
Amino acids in transmembrane helix 1 confer major functional differences between human and mouse orthologs of the polyspecific membrane transporter OCT1.
Title: Amino acids in transmembrane helix 1 confer major functional differences between human and mouse orthologs of the polyspecific membrane transporter OCT1.
Association of SLC22A1,SLCO1B3 Drug Transporter Polymorphisms and Smoking with Disease Risk and Cytogenetic Response to Imatinib in Patients with Chronic Myeloid Leukemia.
Title: Association of SLC22A1,SLCO1B3 Drug Transporter Polymorphisms and Smoking with Disease Risk and Cytogenetic Response to Imatinib in Patients with Chronic Myeloid Leukemia.
Genetic variants in SLC22A1 are related to serum lipid levels in Mexican women.
Title: Genetic variants in SLC22A1 are related to serum lipid levels in Mexican women.
OCT1-target neural gene PFN2 promotes tumor growth in androgen receptor-negative prostate cancer.
Title: OCT1-target neural gene PFN2 promotes tumor growth in androgen receptor-negative prostate cancer.

Submit: New GeneRIF Correction See all GeneRIFs (126)

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
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies new prostate cancer susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Human metabolic individuality in biomedical and pharmaceutical research. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Oct proteins have been shown to bind to HIV-1 Tat and both enhance and repress Tat-mediated transactivation of the HIV-1 LTR promoter, suggesting a role for Oct proteins in regulation of Tat function	PubMed
Vif	vif	HIV-1 Vif upregulates the expression of solute carrier family 22, member 1 (SLC22A1) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482407

SHGC-145283 (e-PCR)
- UniSTS:174493

NoName (e-PCR)
- UniSTS:486312

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables (R)-carnitine transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables acetylcholine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables dopamine:sodium symporter activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables monoamine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables neurotransmitter transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables norepinephrine:sodium symporter activity	IEA Inferred from Electronic Annotation more info
enables organic anion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables organic cation transmembrane transporter activity	EXP Inferred from Experiment more info	PubMed
enables organic cation transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables organic cation transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables organic cation transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
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 putrescine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables pyrimidine nucleoside transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables quaternary ammonium group transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables spermidine transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables thiamine transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables toxin transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables toxin transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables xenobiotic transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables xenobiotic transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in (R)-carnitine transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in acetylcholine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in acyl carnitine transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in cellular detoxification	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular detoxification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dopamine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in dopamine uptake	IDA Inferred from Direct Assay more info	PubMed
involved_in epinephrine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment or maintenance of transmembrane electrochemical gradient	IEA Inferred from Electronic Annotation more info
involved_in metanephric proximal tubule development	IEA Inferred from Electronic Annotation more info
involved_in monoamine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic cation transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter transport	IDA Inferred from Direct Assay more info	PubMed
involved_in norepinephrine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in norepinephrine uptake	IEA Inferred from Electronic Annotation more info
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 organic cation transport	TAS Traceable Author Statement more info	PubMed
involved_in prostaglandin transport	IDA Inferred from Direct Assay more info	PubMed
involved_in purine-containing compound transmembrane transport	TAS Traceable Author Statement more info
involved_in putrescine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in quaternary ammonium group transport	IDA Inferred from Direct Assay more info	PubMed
involved_in serotonin transport	IDA Inferred from Direct Assay more info	PubMed
involved_in serotonin uptake	IDA Inferred from Direct Assay more info	PubMed
involved_in spermidine transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in spermidine transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in thiamine transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in thiamine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info
involved_in xenobiotic transport	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in xenobiotic transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
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 basolateral plasma membrane	TAS Traceable Author Statement more info
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: solute carrier family 22 member 1

Names: organic cation transporter 1; solute carrier family 22 (organic cation transporter), 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_003057.3 → NP_003048.1 solute carrier family 22 member 1 isoform a

See identical proteins and their annotated locations for NP_003048.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer and predominant transcript, and encodes the longer isoform (a).

Source sequence(s)

AL353625

Consensus CDS

CCDS5274.1

UniProtKB/Swiss-Prot

A6NFF3, A8K1H2, C9JSU6, O15245, O15395, Q9NQD4

Related

ENSP00000355930.4, ENST00000366963.9

Conserved Domains (2) summary

cd06174
Location:118 → 514

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:12 → 524

2A0119; cation transport protein
NM_153187.2 → NP_694857.1 solute carrier family 22 member 1 isoform b

See identical proteins and their annotated locations for NP_694857.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (b) has a distinct C-terminus compared to isoform a.

Source sequence(s)

AL353625

Consensus CDS

CCDS5275.1

UniProtKB/Swiss-Prot

O15245

Related

ENSP00000318103.4, ENST00000324965.8

Conserved Domains (2) summary

cd06174
Location:118 → 465

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:12 → 465

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_000006.12 Reference GRCh38.p14 Primary Assembly

Range

160121815..160158718

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005267103.3 → XP_005267160.1 solute carrier family 22 member 1 isoform X1

Conserved Domains (2) summary

cd06174
Location:118 → 484

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:12 → 500

2A0119; cation transport protein
XM_006715552.3 → XP_006715615.1 solute carrier family 22 member 1 isoform X2

UniProtKB/Swiss-Prot

O15245

Related

ENSP00000409557.2, ENST00000457470.6

Conserved Domains (2) summary

cd06174
Location:118 → 462

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:12 → 462

2A0119; cation transport protein