Slc22a4 solute carrier family 22 (organic cation transporter), member 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc22a4provided by MGI
Official Full Name: solute carrier family 22 (organic cation transporter), member 4provided by MGI
Primary source: MGI:MGI:1353479
See related: Ensembl:ENSMUSG00000020334 AllianceGenome:MGI:1353479
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Octn1
Summary: Enables carnitine transmembrane transporter activity. Acts upstream of or within carnitine metabolic process; carnitine transport; and triglyceride metabolic process. Located in apical plasma membrane and mitochondrial membrane. Is expressed in several structures, including integumental system; liver; musculoskeletal system; nervous system; and nose. Used to study inflammatory bowel disease 1. Human ortholog(s) of this gene implicated in rheumatoid arthritis. Orthologous to human SLC22A4 (solute carrier family 22 member 4). [provided by Alliance of Genome Resources, Jan 2025]
Expression: Broad expression in kidney adult (RPKM 12.0), liver E14.5 (RPKM 10.1) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B1.3; 11 32.07 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (53873941..53920866, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (53983115..54030040, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Investigating the ID3/SLC22A4 as immune-related signatures in ischemic stroke.
Title: Investigating the ID3/SLC22A4 as immune-related signatures in ischemic stroke.
Carnitine/organic cation transporter 1 precipitates the progression of interstitial fibrosis through oxidative stress in diabetic nephropathy in mice.
Title: Carnitine/organic cation transporter 1 precipitates the progression of interstitial fibrosis through oxidative stress in diabetic nephropathy in mice.
Homostachydrine is a Xenobiotic Substrate of OCTN1/SLC22A4 and Potentially Sensitizes Pentylenetetrazole-Induced Seizures in Mice.
Title: Homostachydrine is a Xenobiotic Substrate of OCTN1/SLC22A4 and Potentially Sensitizes Pentylenetetrazole-Induced Seizures in Mice.
There was a significant upregulation of mOctn1 and mOctn2 mRNA by qRT-PCR in mdx quadriceps and of mOctn2 and mOctn3 mRNA in mdx heart
Title: Expression of the organic cation/carnitine transporter family (Octn1,-2 and-3) in mdx muscle and heart: Implications for early carnitine therapy in Duchenne muscular dystrophy to improve cellular carnitine homeostasis.
OCTN1 negatively regulated the induction of inflammatory cytokine IL-1beta
Title: Carnitine/Organic Cation Transporter OCTN1 Negatively Regulates Activation in Murine Cultured Microglial Cells.
Dysfunction of intestinal OCTN1 in mouse model of chronic kidney disease (CKD) impaired the OCTN1-ergothioneine axis, an adaptive antioxidant system, and that decreased antioxidant ergothioneine levels may contribute to CKD progression in a PDZK1-dependent manner.
Title: Impairment of the carnitine/organic cation transporter 1-ergothioneine axis is mediated by intestinal transporter dysfunction in chronic kidney disease.
OCTN1 is functionally expressed on activated intestinal macrophages, and ergothioneine uptake into these immune cells could contribute at least in part to the altered disposition of ergothioneine in intestinal inflammation.
Title: Organic cation transporter Octn1-mediated uptake of food-derived antioxidant ergothioneine into infiltrating macrophages during intestinal inflammation in mice.
The bile acids that accumulated in intestinal epithelial cells suppressed PPARalpha-mediated transactivation of Octn1 in the dark phase.
Title: Modulation of peroxisome proliferator-activated receptor-α activity by bile acids causes circadian changes in the intestinal expression of Octn1/Slc22a4 in mice.
OCTN1 is involved in cellular differentiation, but inhibits their proliferation, possibly via the regulation of cellular oxidative stress
Title: Functional expression of carnitine/organic cation transporter OCTN1 in mouse brain neurons: possible involvement in neuronal differentiation.
These results indicate that OCTN1 plays a pivotal role for maintenance of systemic and intestinal exposure of ergothioneine
Title: Gene knockout and metabolome analysis of carnitine/organic cation transporter OCTN1.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (3) 1 citation

General gene information

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Markers

Slc22a4 (e-PCR), detects polymorphism
- UniSTS:463371

AB016257 (e-PCR)
- UniSTS:163500

Slc22a4 (e-PCR), detects polymorphism
- UniSTS:209591

Slc22a4 (e-PCR), detects polymorphism
- UniSTS:547321

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables acetylcholine transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables acetylcholine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables amino acid transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables amino acid transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables amino-acid betaine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables amino-acid betaine transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables carnitine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables carnitine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables organic cation transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables quaternary ammonium group transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables quaternary ammonium group transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in acetate ester transport	IEA Inferred from Electronic Annotation more info
involved_in amino acid import across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in amino acid import across plasma membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within carnitine metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in carnitine transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within carnitine transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within carnitine transport	ISO Inferred from Sequence Orthology more info
involved_in neurotransmitter transport	IEA Inferred from Electronic Annotation more info
involved_in quaternary ammonium group transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within quaternary ammonium group transport	IDA Inferred from Direct Assay more info	PubMed
involved_in quaternary ammonium group transport	ISO Inferred from Sequence Orthology more info
involved_in sodium ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within triglyceride metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in xenobiotic transport	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basal plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basal plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: solute carrier family 22 member 4

Names: LSTP-Like 2; organic cation/carnitine transporter 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_001330304.1 → NP_001317233.1 solute carrier family 22 member 4 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks a 5' exon compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG to encode an isoform (2) that has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AK143595, AL596444, CD773920

Conserved Domains (1) summary

cl28910
Location:1 → 334

MFS; Major Facilitator Superfamily
NM_019687.4 → NP_062661.1 solute carrier family 22 member 4 isoform 1

Status: VALIDATED

Description

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

Source sequence(s)

AB016257, AK143595, AL596444, CD773920

Consensus CDS

CCDS24689.1

UniProtKB/Swiss-Prot

Q9Z306

Related

ENSMUSP00000020586.7, ENSMUST00000020586.7

Conserved Domains (2) summary

cd06174
Location:123 → 510

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 → 519

2A0119; cation transport protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

53873941..53920866 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017314588.3 → XP_017170077.1 solute carrier family 22 member 4 isoform X1

Conserved Domains (1) summary

cl28910
Location:1 → 334

MFS; Major Facilitator Superfamily
XM_006533512.4 → XP_006533575.1 solute carrier family 22 member 4 isoform X1

Conserved Domains (1) summary

cl28910
Location:1 → 334

MFS; Major Facilitator Superfamily
XM_011249065.3 → XP_011247367.1 solute carrier family 22 member 4 isoform X1

Conserved Domains (1) summary

cl28910
Location:1 → 334

MFS; Major Facilitator Superfamily