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SLC22A4 solute carrier family 22 member 4 [ Homo sapiens (human) ]

Gene ID: 6583, updated on 9-Dec-2022

Summary

Official Symbol
SLC22A4provided by HGNC
Official Full Name
solute carrier family 22 member 4provided by HGNC
Primary source
HGNC:HGNC:10968
See related
Ensembl:ENSG00000197208 MIM:604190; AllianceGenome:HGNC:10968
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
OCTN1; DFNB60
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. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]
Expression
Broad expression in bone marrow (RPKM 7.1), small intestine (RPKM 3.8) and 16 other tissues See more
Orthologs
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Genomic context

See SLC22A4 in Genome Data Viewer
Location:
5q31.1
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (132294394..132344190)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (132814292..132864084)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131630087..131679883)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4855 Neighboring gene uncharacterized LOC124901063 Neighboring gene CAGE-defined mid-level expression enhancer upstream of SLC22A4 Neighboring gene MIR3936 host gene Neighboring gene microRNA 3936 Neighboring gene solute carrier family 22 member 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Rheumatoid arthritis
MedGen: C0003873 OMIM: 180300 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Genome-wide interaction studies reveal sex-specific asthma risk alleles.
EBI GWAS Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
EBI GWAS Catalog
Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34546, MGC40524

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in amino acid import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in carnitine metabolic process IEA
Inferred from Electronic Annotation
more info
 
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 
involved_in quaternary ammonium group transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in quaternary ammonium group transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in xenobiotic transport IDA
Inferred from Direct Assay
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 mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IC
Inferred by Curator
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
solute carrier family 22 member 4
Names
ET transporter
deafness, autosomal recessive 60
ergothioneine transporter
integral membrane transport protein
organic cation/carnitine transporter 1
solute carrier family 22 (organic cation/ergothioneine transporter), member 4
solute carrier family 22 (organic cation/zwitterion transporter), member 4

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.

Genomic

  1. NG_012129.2 RefSeqGene

    Range
    4943..54739
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003059.3NP_003050.2  solute carrier family 22 member 4

    See identical proteins and their annotated locations for NP_003050.2

    Status: REVIEWED

    Source sequence(s)
    AC008599, BC028313, DA591407
    Consensus CDS
    CCDS4153.1
    UniProtKB/Swiss-Prot
    O14546, Q9H015
    Related
    ENSP00000200652.3, ENST00000200652.4
    Conserved Domains (2) summary
    cd06174
    Location:123508
    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:12518
    2A0119; cation transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    132294394..132344190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714675.5XP_006714738.1  solute carrier family 22 member 4 isoform X3

    Conserved Domains (1) summary
    cd06174
    Location:1332
    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 ...
  2. XM_011543589.3XP_011541891.1  solute carrier family 22 member 4 isoform X2

    Conserved Domains (1) summary
    TIGR00898
    Location:12426
    2A0119; cation transport protein
  3. XM_047417594.1XP_047273550.1  solute carrier family 22 member 4 isoform X1

  4. XM_017009776.2XP_016865265.1  solute carrier family 22 member 4 isoform X3

    Conserved Domains (1) summary
    cd06174
    Location:1332
    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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    132814292..132864084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)