InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC22A4

Summary

InnateDB Protein

IDBP-41906.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC22A4

Protein Name

solute carrier family 22 (organic cation/ergothioneine transporter), member 4

Synonyms

OCTN1;

Species

Homo sapiens

Ensembl Protein

ENSP00000200652

InnateDB Gene

IDBG-41902 (SLC22A4)

Protein Structure

UniProt Annotation

Function

Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET). {ECO:0000269PubMed:10215651, ECO:0000269PubMed:15795384}.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Rheumatoid arthritis (RA) [MIM:180300]: An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. {ECO:0000269PubMed:14608356}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Highly expressed in whole blood, bone marrow, trachea and fetal liver. Weakly expressed in kidney, skeletal muscle, prostate, lung, pancreas, placenta, heart, uterus, spleen and spinal cord. 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. Predominantly expressed in CD14 cells in peripheral blood mononuclear cells. {ECO:0000269PubMed:14608356, ECO:0000269PubMed:15107849, ECO:0000269PubMed:9426230}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	1 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008513	secondary active organic cation transmembrane transporter activity
GO:0015075	ion transmembrane transporter activity
GO:0015226	carnitine transmembrane transporter activity
GO:0015293	symporter activity
GO:0015491	cation:cation antiporter activity
GO:0015651	quaternary ammonium group transmembrane transporter activity
GO:0022857	transmembrane transporter activity
GO:0030165	PDZ domain binding

Biological Process

GO:0006641	triglyceride metabolic process
GO:0006814	sodium ion transport
GO:0007589	body fluid secretion
GO:0009437	carnitine metabolic process
GO:0015695	organic cation transport
GO:0015697	quaternary ammonium group transport
GO:0015879	carnitine transport
GO:0034220	ion transmembrane transport
GO:0055085	transmembrane transport
GO:1902603	carnitine transmembrane transport

Cellular Component

GO:0005739	mitochondrion
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR004749 Organic cation transport protein
IPR005828 General substrate transporter
IPR011701 Major facilitator superfamily
IPR016196 Major facilitator superfamily domain, general substrate transporter
IPR020846 Major facilitator superfamily domain

PFAM

PF00083
PF07690

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9H015

PhosphoSite