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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)
End	132,344,190 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	53,918,916 bp
RNA expression pattern
	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
	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
	6583
	30805
	ENSG00000197208
	ENSMUSG00000020334
	Q9H015
	Q9Z306
	NM_003059
	NM_019687; NM_001330304
	NP_003050
	NP_001317233; NP_062661
	Wikidata
View/Edit Human	View/Edit Mouse

Solute carrier family 22, member 4, also known as SLC22A4, is a human gene; the encoded protein is known as the ergothioneine transporter.^[5]^[6]

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.^[7] Thus, a more appropriate functional designation is ETT ("ergothioneine transporter").^[5]

Interactions

SLC22A4 has been shown to interact with PDZK1.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000197208 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020334 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Gründemann, Dirk; Hartmann, Lea; Flögel, Svenja (May 2022). "The ergothioneine transporter (ETT): substrates and locations, an inventory". FEBS Letters. 596 (10): 1252–1269. doi:10.1002/1873-3468.14269. PMID 34958679. S2CID 245535600.
^ "Entrez Gene: SLC22A4 solute carrier family 22 (ergothioneine transporter), member 4".
^ Gründemann D, Harlfinger S, Golz S, Geerts A, Lazar A, Berkels R, Jung N, Rubbert A, Schömig E (Apr 2005). "Discovery of the ergothioneine transporter". Proceedings of the National Academy of Sciences of the United States of America. 102 (14): 5256–61. Bibcode:2005PNAS..102.5256G. doi:10.1073/pnas.0408624102. PMC 555966. PMID 15795384.
^ 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.

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.

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000197208 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020334 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[review2022-5] Gründemann, Dirk; Hartmann, Lea; Flögel, Svenja (May 2022). "The ergothioneine transporter (ETT): substrates and locations, an inventory". FEBS Letters. 596 (10): 1252–1269. doi:10.1002/1873-3468.14269. PMID 34958679. S2CID 245535600.

[entrez-6] "Entrez Gene: SLC22A4 solute carrier family 22 (ergothioneine transporter), member 4".

[7] Gründemann D, Harlfinger S, Golz S, Geerts A, Lazar A, Berkels R, Jung N, Rubbert A, Schömig E (Apr 2005). "Discovery of the ergothioneine transporter". Proceedings of the National Academy of Sciences of the United States of America. 102 (14): 5256–61. Bibcode:2005PNAS..102.5256G. doi:10.1073/pnas.0408624102. PMC 555966. PMID 15795384.

[pmid14531806-8] 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.

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SLC22A4

Function

Interactions

See also

References

Further reading