SLC22A4

SLC22A4
Identifiers
Aliases	SLC22A4, OCTN1, solute carrier family 22 member 4, DFNB60
External IDs	OMIM: 604190; MGI: 1353479; HomoloGene: 81701; GeneCards: SLC22A4; OMA:SLC22A4 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) Band 5q31.1 Start 132,294,394 bp End 132,344,190 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 B1.3|11 32.07 cM Start 53,873,949 bp End 53,918,916 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell mucosa of paranasal sinus right uterine tube trabecular bone nasal epithelium blood olfactory zone of nasal mucosa bone marrow epithelium of nasopharynx monocyte Top expressed in right kidney lumbar subsegment of spinal cord proximal tubule fetal liver hematopoietic progenitor cell granulocyte lip skin of external ear human kidney cerebellar cortex jejunum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding PDZ domain binding transmembrane transporter activity transporter activity protein binding carnitine transmembrane transporter activity secondary active organic cation transmembrane transporter activity quaternary ammonium group transmembrane transporter activity ATP binding symporter activity organic anion transmembrane transporter activity Cellular component integral component of membrane membrane plasma membrane integral component of plasma membrane apical plasma membrane mitochondrion Biological process body fluid secretion sodium ion transport quaternary ammonium group transport ion transport organic cation transport carnitine transport triglyceride metabolic process carnitine metabolic process cation transmembrane transport ion transmembrane transport carnitine transmembrane transport transmembrane transport organic anion transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6583 30805 Ensembl ENSG00000197208 ENSMUSG00000020334 UniProt Q9H015 Q9Z306 RefSeq (mRNA) NM_003059 NM_019687 NM_001330304 RefSeq (protein) NP_003050 NP_001317233 NP_062661 Location (UCSC) Chr 5: 132.29 – 132.34 Mb Chr 11: 53.87 – 53.92 Mb PubMed search
Wikidata
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Solute carrier family 22, member 4, also known as SLC22A4, is a human gene; the encoded protein is known as the ergothioneine transporter.

Function

The encoded protein is an integral protein of the plasma membrane containing 12 transmembrane segments. The first functional designation of this protein was OCTN1 ("organic cation transporter, novel, type 1"), but efficiency of transport for organic cations (e.g., tetraethylammonium) is very low. The transport efficiency for carnitine is also negligible. Instead, the protein is responsible for the cotransport of sodium ions and ergothioneine, which is an antioxidant, into cells. Thus, a more appropriate functional designation is ETT ("ergothioneine transporter").

Interactions

SLC22A4 has been shown to interact with PDZK1.

See also

• Solute carrier family

Further reading

• Xuan W, Lamhonwah AM, Librach C, Jarvi K, Tein I (Jun 2003). "Characterization of organic cation/carnitine transporter family in human sperm". Biochemical and Biophysical Research Communications. 306 (1): 121–8. doi:10.1016/S0006-291X(03)00930-6. PMID 12788076.
• Yamada R, Tokuhiro S, Chang X, Yamamoto K (Sep 2004). "SLC22A4 and RUNX1: identification of RA susceptible genes". Journal of Molecular Medicine. 82 (9): 558–64. doi:10.1007/s00109-004-0547-y. PMID 15184985. S2CID 9156168.
• Silverberg MS (Jun 2006). "OCTNs: will the real IBD5 gene please stand up?". World Journal of Gastroenterology. 12 (23): 3678–81. doi:10.3748/wjg.v12.i23.3678. PMC 4087460. PMID 16773684.
• Tamai I, Yabuuchi H, Nezu J, Sai Y, Oku A, Shimane M, Tsuji A (Dec 1997). "Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1". FEBS Letters. 419 (1): 107–11. doi:10.1016/S0014-5793(97)01441-5. PMID 9426230. S2CID 35546307.
• Meyer-Wentrup F, Karbach U, Gorboulev V, Arndt P, Koepsell H (Jul 1998). "Membrane localization of the electrogenic cation transporter rOCT1 in rat liver". Biochemical and Biophysical Research Communications. 248 (3): 673–8. doi:10.1006/bbrc.1998.9034. PMID 9703985.
• Urakami Y, Okuda M, Masuda S, Saito H, Inui KI (Nov 1998). "Functional characteristics and membrane localization of rat multispecific organic cation transporters, OCT1 and OCT2, mediating tubular secretion of cationic drugs". The Journal of Pharmacology and Experimental Therapeutics. 287 (2): 800–5. PMID 9808712.
• Yabuuchi H, Tamai I, Nezu J, Sakamoto K, Oku A, Shimane M, Sai Y, Tsuji A (May 1999). "Novel membrane transporter OCTN1 mediates multispecific, bidirectional, and pH-dependent transport of organic cations". The Journal of Pharmacology and Experimental Therapeutics. 289 (2): 768–73. PMID 10215651.
• Alcorn J, Lu X, Moscow JA, McNamara PJ (Nov 2002). "Transporter gene expression in lactating and nonlactating human mammary epithelial cells using real-time reverse transcription-polymerase chain reaction". The Journal of Pharmacology and Experimental Therapeutics. 303 (2): 487–96. doi:10.1124/jpet.102.038315. PMID 12388627. S2CID 16195525.
• Saito S, Iida A, Sekine A, Ogawa C, Kawauchi S, Higuchi S, Nakamura Y (2003). "Catalog of 238 variations among six human genes encoding solute carriers ( hSLCs) in the Japanese population". Journal of Human Genetics. 47 (11): 576–84. doi:10.1007/s100380200088. PMID 12436193.
• Eraly SA, Hamilton BA, Nigam SK (Jan 2003). "Organic anion and cation transporters occur in pairs of similar and similarly expressed genes". Biochemical and Biophysical Research Communications. 300 (2): 333–42. doi:10.1016/S0006-291X(02)02853-X. PMID 12504088.
• Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (Nov 2003). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney International. 64 (5): 1733–45. doi:10.1046/j.1523-1755.2003.00266.x. PMID 14531806.
• Tokuhiro S, Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T, Suzuki M, Nagasaki M, Ohtsuki M, Ono M, Furukawa H, Nagashima M, Yoshino S, Mabuchi A, Sekine A, Saito S, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K (Dec 2003). "An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis". Nature Genetics. 35 (4): 341–8. doi:10.1038/ng1267. PMID 14608356. S2CID 21564858.
• Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Van Oene M, Cescon D, Greenberg G, Griffiths AM, St George-Hyslop PH, Siminovitch KA (May 2004). "Functional variants of OCTN cation transporter genes are associated with Crohn disease". Nature Genetics. 36 (5): 471–5. doi:10.1038/ng1339. PMID 15107849.
• Kawasaki Y, Kato Y, Sai Y, Tsuji A (Dec 2004). "Functional characterization of human organic cation transporter OCTN1 single nucleotide polymorphisms in the Japanese population". Journal of Pharmaceutical Sciences. 93 (12): 2920–6. doi:10.1002/jps.20190. PMID 15459889.
• Newman B, Gu X, Wintle R, Cescon D, Yazdanpanah M, Liu X, Peltekova V, Van Oene M, Amos CI, Siminovitch KA (Feb 2005). "A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease". Gastroenterology. 128 (2): 260–9. doi:10.1053/j.gastro.2004.11.056. PMID 15685536.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.