SLC22A4

Protein name: OCTN1 Aliases: ETT Substrates: zwitterions, organic cations Transport type: Facilitated transporter or E / H+ Tissue and cellular expression: kidney, intestine, spleen, heart, skeletal muscle, brain, mammary gland, thymus, prostate, airways, testis, eye, fetal liver, sperm, immune cells Subcellular expression: N/D Disease: Rheumatoid arthritis, Crohn?s disease Locus: 5q31.1 Sequence ID: NP_003050.2, NM_003059.2 Gene ID: 6583 Splice variants: N/D

S22A4_HUMAN (UniProt)

Gene names: SLC22A4, ETT, OCTN1, UT2H
Protein names and data: S22A4_HUMAN, Full=Solute carrier family 22 member 4, Full=Ergothioneine transporter;Short=ET transporter;Full=Organic cation/carnitine transporter 1; Length: 551 a.a., Mass: 62155 Da,
fasta formatted sequence

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)
Disease:
Cellular location: Membrane; Multi-pass membrane protein
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

Database cross-references

UniProt: Q9H015
NextBio: 25617
OMIM: 180300 604190
Ensembl: ENST00000200652
GeneCard: GC05P132294
PharmGenUCSF: SLC22A4
Guide to Pharmacology: SLC22A4 (1022)
Organic zwitterions/cation transporters (OCTN) (1022)

HGNC: HGNC:10968

Genetic variants

See also Ensembl:ENST00000200652