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SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4 [ Homo sapiens (human) ]

Gene ID: 6583, updated on 22-Dec-2014
Official Symbol
SLC22A4provided by HGNC
Official Full Name
solute carrier family 22 (organic cation/zwitterion transporter), member 4provided by HGNC
Primary source
HGNC:HGNC:10968
See related
Ensembl:ENSG00000197208; HPRD:09171; MIM:604190; Vega:OTTHUMG00000059648
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
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]
See SLC22A4 in Epigenomics, MapViewer
Location:
5q31.1
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (132294452..132344206)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131630145..131679899)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene prolyl 4-hydroxylase, alpha polypeptide II Neighboring gene microRNA 6830 Neighboring gene uncharacterized LOC101927705 Neighboring gene PDZ and LIM domain 4 Neighboring gene uncharacterized LOC553103 Neighboring gene microRNA 3936 Neighboring gene solute carrier family 22 (organic cation/carnitine transporter), member 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

NHGRI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Genome-wide interaction studies reveal sex-specific asthma risk alleles.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
NHGRI GWA 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.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC34546, MGC40524

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
carnitine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
cation:cation antiporter activity IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
quaternary ammonium group transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
secondary active organic cation transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
symporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
body fluid secretion TAS
Traceable Author Statement
more info
PubMed 
carnitine metabolic process IEA
Inferred from Electronic Annotation
more info
 
carnitine transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
carnitine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
carnitine transport IDA
Inferred from Direct Assay
more info
PubMed 
cation transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
organic cation transport TAS
Traceable Author Statement
more info
PubMed 
quaternary ammonium group transport IDA
Inferred from Direct Assay
more info
PubMed 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IC
Inferred by Curator
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
solute carrier family 22 member 4
Names
solute carrier family 22 member 4
ET transporter
ergothioneine transporter
integral membrane transport protein
organic cation/carnitine transporter 1
solute carrier family 22 (organic cation/ergothioneine transporter), member 4

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_012129.1 

    Range
    5001..54755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_003050.2

    Status: REVIEWED

    Source sequence(s)
    BC028313
    Consensus CDS
    CCDS4153.1
    UniProtKB/Swiss-Prot
    Q9H015
    Related
    ENSP00000200652, OTTHUMP00000065971, ENST00000200652, OTTHUMT00000132661
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    132294452..132344206
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714675.1XP_006714738.1  

    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 CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    131062911..131112639
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    126822406..126872150
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)