Gene/Proteome Database (LMPD)

LMPD ID
LMP005949
Gene ID
6584
Species
Homo sapiens (Human)
Gene Name
solute carrier family 22 (organic cation/carnitine transporter), member 5
Gene Symbol
SLC22A5
Synonyms
CDSP; OCTN2; OCTN2VT
Alternate Names
solute carrier family 22 member 5; organic cation/carnitine transporter 2; high-affinity sodium dependent carnitine cotransporter
Chromosome
5
Map Location
5q23.3
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 a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for SLC22A5

Proteins

solute carrier family 22 member 5
Refseq ID NP_003051
Protein GI 4507005
UniProt ID O76082
mRNA ID NM_003060
Length 557
RefSeq Status REVIEWED
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF

Gene Information

Entrez Gene ID
6584
Gene Name
solute carrier family 22 (organic cation/carnitine transporter), member 5
Gene Symbol
SLC22A5
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0016324 IDA:BHF-UCL C apical plasma membrane
GO:0016323 IEA:Ensembl C basolateral plasma membrane
GO:0031526 IDA:BHF-UCL C brush border membrane
GO:0070062 IDA:UniProt C extracellular vesicular exosome
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0005886 IC:BHF-UCL C plasma membrane
GO:0005524 IEA:UniProtKB-KW F ATP binding
GO:0030165 IPI:BHF-UCL F PDZ domain binding
GO:0042895 IEA:Ensembl F antibiotic transporter activity
GO:0015226 IDA:BHF-UCL F carnitine transmembrane transporter activity
GO:0015238 IC:BHF-UCL F drug transmembrane transporter activity
GO:0015651 IDA:BHF-UCL F quaternary ammonium group transmembrane transporter activity
GO:0015293 IEA:UniProtKB-KW F symporter activity
GO:1902603 IDA:GOC P carnitine transmembrane transport
GO:0015879 IDA:BHF-UCL P carnitine transport
GO:0006855 IC:GOC P drug transmembrane transport
GO:0015893 IC:BHF-UCL P drug transport
GO:0060731 IMP:BHF-UCL P positive regulation of intestinal epithelial structure maintenance
GO:0015697 IDA:BHF-UCL P quaternary ammonium group transport
GO:0052106 IMP:BHF-UCL P quorum sensing involved in interaction with host
GO:0006814 IEA:UniProtKB-KW P sodium ion transport
GO:0070715 IDA:BHF-UCL P sodium-dependent organic cation transport
GO:0055085 TAS:Reactome P transmembrane transport

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_22357 Organic cation transport
REACT_22345 Organic cation/anion/zwitterion transport
REACT_19118 SLC-mediated transmembrane transport
REACT_19305 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds

Domain Information

InterPro Annotations

Accession Description
IPR005828 General substrate transporter
IPR020846 Major facilitator superfamily domain
IPR004749 Organic cation transport protein
IPR005829 Sugar transporter, conserved site

UniProt Annotations

Entry Information

Gene Name
solute carrier family 22 (organic cation/carnitine transporter), member 5
Protein Entry
S22A5_HUMAN
UniProt ID
O76082
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O76082-1; Sequence=Displayed; Name=2; IsoId=O76082-2; Sequence=VSP_011120, VSP_011121; Note=No experimental confirmation available.; Name=3; Synonyms=OCTN2VT; IsoId=O76082-3; Sequence=VSP_043904; Note=Retained in the ER, unable to perform carnitine uptake.;
Disease Systemic primary carnitine deficiency (CDSP) [MIM
Function Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3.
Miscellaneous Inhibited by emetine, quinidine and verapamil. The IC(50) of emetine is 4.2 uM. Not inhibited by valproic acid.
Similarity Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
Subcellular Location Membrane ; Multi-pass membrane protein .
Subunit Interacts with PDZK1.
Tissue Specificity Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells.
Web Resource Name=The SLC22A5 database; URL="http://www.arup.utah.edu/database/OCTN2/OCTN2_welcome.php";

Identical and Related Proteins

Unique RefSeq proteins for LMP005949 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4507005 RefSeq NP_003051 557 solute carrier family 22 member 5

Identical Sequences to LMP005949 proteins

Reference Database Accession Length Protein Name
GI:4507005 GenBank ADL99195.1 557 Sequence 6 from patent US 7723019
GI:4507005 GenBank ADR87111.1 557 Sequence 396 from patent US 7740664
GI:4507005 GenBank AED17702.1 557 Sequence 12 from patent US 7879563
GI:4507005 GenBank AEH97780.1 557 Sequence 3 from patent US 7947470
GI:4507005 GenBank AFO05921.1 557 Sequence 559 from patent US 8216786
GI:4507005 GenBank AHD71905.1 557 Sequence 6599 from patent US 8586006

Related Sequences to LMP005949 proteins

Reference Database Accession Length Protein Name
GI:4507005 GenBank AAH12325.1 557 Solute carrier family 22 (organic cation/carnitine transporter), member 5 [Homo sapiens]
GI:4507005 GenBank ABM84597.1 557 solute carrier family 22 (organic cation transporter), member 5 [synthetic construct]
GI:4507005 GenBank ABM86744.1 557 solute carrier family 22 (organic cation transporter), member 5, partial [synthetic construct]
GI:4507005 GenBank JAA08545.1 557 solute carrier family 22 (organic cation/carnitine transporter), member 5 [Pan troglodytes]
GI:4507005 GenBank AIC55146.1 557 SLC22A5, partial [synthetic construct]
GI:4507005 RefSeq XP_004042517.1 557 PREDICTED: solute carrier family 22 member 5 isoform 1 [Gorilla gorilla gorilla]