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NameSolute carrier family 22 member 4
Synonyms
  • Ergothioneine transporter
  • ET transporter
  • ETT
  • OCTN1
  • Organic cation/carnitine transporter 1
  • UT2H
Gene NameSLC22A4
OrganismHuman
Amino acid sequence
>lcl|BSEQ0010533|Solute carrier family 22 member 4
MRDYDEVIAFLGEWGPFQRLIFFLLSASIIPNGFNGMSVVFLAGTPEHRCRVPDAANLSS
AWRNNSVPLRLRDGREVPHSCSRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFS
QDVYLSTVVTEWNLVCEDNWKVPLTTSLFFVGVLLGSFVSGQLSDRFGRKNVLFATMAVQ
TGFSFLQIFSISWEMFTVLFVIVGMGQISNYVVAFILGTEILGKSVRIIFSTLGVCTFFA
VGYMLLPLFAYFIRDWRMLLLALTVPGVLCVPLWWFIPESPRWLISQRRFREAEDIIQKA
AKMNNIAVPAVIFDSVEELNPLKQQKAFILDLFRTRNIAIMTIMSLLLWMLTSVGYFALS
LDAPNLHGDAYLNCFLSALIEIPAYITAWLLLRTLPRRYIIAAVLFWGGGVLLFIQLVPV
DYYFLSIGLVMLGKFGITSAFSMLYVFTAELYPTLVRNMAVGVTSTASRVGSIIAPYFVY
LGAYNRMLPYIVMGSLTVLIGILTLFFPESLGMTLPETLEQMQKVKWFRSGKKTRDSMET
EENPKVLITAF
Number of residues551
Molecular Weight62154.48
Theoretical pI7.27
GO Classification
Functions
  • quaternary ammonium group transmembrane transporter activity
  • symporter activity
  • nucleotide binding
  • secondary active organic cation transmembrane transporter activity
  • ATP binding
  • carnitine transmembrane transporter activity
  • cation
  • PDZ domain binding
Processes
  • carnitine metabolic process
  • carnitine transmembrane transport
  • carnitine transport
  • modified amino acid transport
  • quaternary ammonium group transport
  • body fluid secretion
  • sodium ion transport
  • organic cation transport
  • triglyceride metabolic process
  • transmembrane transport
Components
  • mitochondrion
  • plasma membrane
  • integral component of plasma membrane
  • apical plasma membrane
General FunctionSymporter activity
Specific FunctionSodium-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).
Pfam Domain Function
Transmembrane Regions21-41 142-162 172-192 198-218 233-253 258-278 338-358 372-392 400-420 427-447 461-481 487-507
GenBank Protein ID2605501
UniProtKB IDQ9H015
UniProtKB Entry NameS22A4_HUMAN
Cellular LocationMembrane
Gene sequence
>lcl|BSEQ0010534|Solute carrier family 22 member 4 (SLC22A4)
ATGCGGGACTACGACGAGGTGATCGCCTTCCTGGGCGAGTGGGGGCCCTTCCAGCGCCTC
ATCTTCTTCCTGCTCAGCGCCAGCATCATCCCCAATGGCTTCAATGGTATGTCAGTCGTG
TTCCTGGCGGGGACCCCGGAGCACCGCTGTCGAGTGCCGGACGCCGCGAACCTGAGCAGC
GCCTGGCGCAACAACAGTGTCCCGCTGCGGCTGCGGGACGGCCGCGAGGTGCCCCACAGC
TGCAGCCGCTACCGGCTCGCCACCATCGCCAACTTCTCGGCGCTCGGGCTGGAGCCGGGG
CGCGACGTGGACCTGGGGCAGCTGGAGCAGGAGAGCTGCCTGGATGGCTGGGAGTTCAGC
CAGGACGTCTACCTGTCCACCGTCGTGACCGAGTGGAATCTGGTGTGTGAGGACAACTGG
AAGGTGCCCCTCACCACCTCCCTGTTCTTCGTAGGCGTGCTCCTCGGCTCCTTCGTGTCC
GGGCAGCTGTCAGACAGGTTTGGCAGGAAGAACGTTCTCTTCGCAACCATGGCTGTACAG
ACTGGCTTCAGCTTCCTGCAGATTTTCTCCATCAGCTGGGAGATGTTCACTGTGTTATTT
GTCATCGTGGGCATGGGCCAGATCTCCAACTATGTGGTAGCCTTCATACTAGGAACAGAA
ATTCTTGGCAAGTCAGTTCGTATTATATTCTCTACATTAGGAGTGTGCACATTTTTTGCA
GTTGGCTATATGCTGCTGCCACTGTTTGCTTACTTCATCAGAGACTGGCGGATGCTGCTG
CTGGCGCTGACGGTGCCGGGAGTGCTGTGTGTCCCGCTGTGGTGGTTCATTCCTGAATCT
CCCCGATGGCTGATATCCCAGAGAAGATTTAGAGAGGCTGAAGATATCATCCAAAAAGCT
GCAAAAATGAACAACATAGCTGTACCAGCAGTGATATTTGATTCTGTGGAGGAGCTAAAT
CCCCTGAAGCAGCAGAAAGCTTTCATTCTGGACCTGTTCAGGACTCGGAATATTGCCATA
ATGACCATTATGTCTTTGCTGCTATGGATGCTGACCTCAGTGGGTTACTTTGCTCTGTCT
CTGGATGCTCCTAATTTACATGGAGATGCCTACCTGAACTGTTTCCTCTCTGCCTTGATT
GAAATTCCAGCTTACATTACAGCCTGGCTGCTATTGCGAACCCTGCCCAGGCGTTATATC
ATAGCTGCAGTACTGTTCTGGGGAGGAGGTGTGCTTCTCTTCATTCAACTGGTACCTGTG
GATTATTACTTCTTATCCATTGGTCTGGTCATGCTGGGAAAATTTGGGATCACCTCTGCT
TTCTCCATGCTGTATGTCTTCACTGCTGAGCTCTACCCAACCCTGGTCAGGAACATGGCG
GTGGGGGTCACATCCACGGCCTCCAGAGTGGGCAGCATCATTGCCCCCTACTTTGTTTAC
CTCGGTGCTTACAACAGAATGCTGCCCTACATCGTCATGGGTAGTCTGACTGTCCTGATT
GGAATCCTCACCCTTTTTTTCCCTGAAAGTTTGGGAATGACTCTTCCAGAAACCTTAGAG
CAGATGCAGAAAGTGAAATGGTTCAGATCTGGGAAAAAAACAAGAGACTCAATGGAGACA
GAAGAAAATCCCAAGGTTCTAATAACTGCATTCTGA
GenBank Gene IDAB007448
GeneCard IDNot Available
GenAtlas IDSLC22A4
HGNC IDHGNC:10968
Chromosome Location5
Locus5q31.1
References
  1. Tamai I, Yabuuchi H, Nezu J, Sai Y, Oku A, Shimane M, Tsuji A: Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1. FEBS Lett. 1997 Dec 8;419(1):107-11. 9426230
  2. Grundemann D, Harlfinger S, Golz S, Geerts A, Lazar A, Berkels R, Jung N, Rubbert A, Schomig E: Discovery of the ergothioneine transporter. Proc Natl Acad Sci U S A. 2005 Apr 5;102(14):5256-61. Epub 2005 Mar 28. 15795384
  3. Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM: The DNA sequence and comparative analysis of human chromosome 5. Nature. 2004 Sep 16;431(7006):268-74. 15372022
  4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  5. Yabuuchi H, Tamai I, Nezu J, Sakamoto K, Oku A, Shimane M, Sai Y, Tsuji A: Novel membrane transporter OCTN1 mediates multispecific, bidirectional, and pH-dependent transport of organic cations. J Pharmacol Exp Ther. 1999 May;289(2):768-73. 10215651
  6. 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: An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet. 2003 Dec;35(4):341-8. Epub 2003 Nov 9. 14608356
  7. Saito S, Iida A, Sekine A, Ogawa C, Kawauchi S, Higuchi S, Nakamura Y: Catalog of 238 variations among six human genes encoding solute carriers ( hSLCs) in the Japanese population. J Hum Genet. 2002;47(11):576-84. 12436193
  8. Kawasaki Y, Kato Y, Sai Y, Tsuji A: Functional characterization of human organic cation transporter OCTN1 single nucleotide polymorphisms in the Japanese population. J Pharm Sci. 2004 Dec;93(12):2920-6. 15459889
  9. 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: Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet. 2004 May;36(5):471-5. Epub 2004 Apr 11. 15107849