Showing Protein Y+L amino acid transporter 1 (HMDBP03080)

• 8616

1. MOP-2
2. Monocyte amino acid permease 2
3. Solute carrier family 7 member 7
4. Y+LAT1
5. y(+)L-type amino acid transporter 1
6. y+LAT-1

• Amiloride Action Pathway
• Bendroflumethiazide Action Pathway
• Blue diaper syndrome
• Bumetanide Action Pathway
• Chlorothiazide Action Pathway
• Chlorthalidone Action Pathway
• Cyclothiazide Action Pathway
• Cystinuria
• Eplerenone Action Pathway
• Ethacrynic Acid Action Pathway
• Furosemide Action Pathway
• Glucose Transporter Defect (SGLT2)
• Glutaminolysis and Cancer
• Hartnup Disorder
• Hydrochlorothiazide Action Pathway
• Hydroflumethiazide Action Pathway
• Iminoglycinuria
• Indapamide Action Pathway
• Kidney Function
• Lysinuric Protein Intolerance
• Lysinuric protein intolerance (LPI)
• Methyclothiazide Action Pathway
• Metolazone Action Pathway
• Polythiazide Action Pathway
• Quinethazone Action Pathway
• Spironolactone Action Pathway
• Torsemide Action Pathway
• Triamterene Action Pathway
• Trichlormethiazide Action Pathway

1. Multi-pass membrane protein
2. Basolateral cell membrane

>1536 bp
ATGGTTGACAGCACTGAGTATGAAGTGGCCTCCCAGCCTGAGGTGGAAACCTCCCCTTTG
GGTGATGGGGCCAGCCCAGGGCCGGAGCAGGTGAAGCTGAAGAAGGAGATCTCACTGCTT
AACGGCGTGTGCCTGATTGTGGGGAACATGATCGGCTCAGGCATCTTTGTTTCCCCCAAG
GGTGTGCTCATATACAGTGCCTCCTTTGGTCTCTCTCTGGTCATCTGGGCTGTCGGGGGC
CTCTTCTCCGTCTTTGGGGCCCTTTGTTATGCGGAACTGGGCACCACCATTAAGAAATCT
GGGGCCAGCTATGCCTATATCCTGGAGGCCTTTGGAGGATTCCTTGCTTTCATCAGACTC
TGGACCTCCCTGCTCATCATTGAGCCCACCAGCCAGGCCATCATTGCCATCACCTTTGCC
AACTACATGGTACAGCCTCTCTTCCCGAGCTGCTTCGCCCCTTATGCTGCCAGCCGCCTG
CTGGCTGCTGCCTGCATCTGTCTCTTAACCTTCATTAACTGTGCCTATGTCAAATGGGGA
ACCCTGGTACAAGATATTTTCACCTATGCTAAAGTATTGGCACTGATCGCGGTCATCGTT
GCAGGCATTGTTAGACTTGGCCAGGGAGCCTCTACTCATTTTGAGAATTCCTTTGAGGGT
TCATCATTTGCAGTGGGTGACATTGCCCTGGCACTGTACTCAGCTCTGTTCTCCTACTCA
GGCTGGGACACCCTCAACTATGTCACTGAAGAGATCAAGAATCCTGAGAGGAACCTGCCC
CTCTCCATTGGCATCTCCATGCCCATTGTCACCATCATCTATATCTTGACCAATGTGGCC
TATTATACTGTGCTAGACATGAGAGACATCTTGGCCAGTGATGCTGTTGCTGTGACTTTT
GCAGATCAGATATTTGGAATATTTAACTGGATAATTCCACTGTCAGTTGCATTATCCTGT
TTTGGTGGCCTCAATGCCTCCATTGTGGCTGCTTCTAGGCTTTTCTTTGTGGGCTCAAGA
GAAGGCCATCTCCCTGATGCCATCTGCATGATCCATGTTGAGCGGTTCACACCAGTGCCT
TCTCTGCTCTTCAATGGTATCATGGCATTGATCTACTTGTGCGTGGAAGACATCTTCCAG
CTCATTAACTACTACAGCTTCAGCTACTGGTTCTTTGTGGGGCTTTCTATTGTGGGTCAG
CTTTATCTGCGCTGGAAGGAGCCTGATCGACCTCGTCCCCTCAAGCTCAGCGTTTTCTTC
CCGATTGTCTTCTGCCTCTGCACCATCTTCCTGGTGGCTGTTCCACTTTACAGTGATACT
ATCAACTCCCTCATCGGCATTGCCATTGCCCTCTCAGGCCTGCCCTTTTACTTCCTCATC
ATCAGAGTGCCAGAACATAAGCGACCGCTTTACCTCCGAAGGATCGTGGGGTCTGCCACA
AGGTACCTCCAGGTCCTGTGTATGTCAGTTGCTGCAGAAATGGATTTGGAAGATGGAGGA
GAGATGCCCAAGCAACGGGATCCCAAGTCTAACTAA

• AA_permease (PF00324 )

• None

• 37-57
• 69-89
• 107-127
• 133-153
• 160-180
• 186-206
• 222-242
• 259-279
• 304-324
• 383-403
• 416-436
• 441-461

>Y+L amino acid transporter 1
MVDSTEYEVASQPEVETSPLGDGASPGPEQVKLKKEISLLNGVCLIVGNMIGSGIFVSPK
GVLIYSASFGLSLVIWAVGGLFSVFGALCYAELGTTIKKSGASYAYILEAFGGFLAFIRL
WTSLLIIEPTSQAIIAITFANYMVQPLFPSCFAPYAASRLLAAACICLLTFINCAYVKWG
TLVQDIFTYAKVLALIAVIVAGIVRLGQGASTHFENSFEGSSFAVGDIALALYSALFSYS
GWDTLNYVTEEIKNPERNLPLSIGISMPIVTIIYILTNVAYYTVLDMRDILASDAVAVTF
ADQIFGIFNWIIPLSVALSCFGGLNASIVAASRLFFVGSREGHLPDAICMIHVERFTPVP
SLLFNGIMALIYLCVEDIFQLINYYSFSYWFFVGLSIVGQLYLRWKEPDRPRPLKLSVFF
PIVFCLCTIFLVAVPLYSDTINSLIGIAIALSGLPFYFLIIRVPEHKRPLYLRRIVGSAT
RYLQVLCMSVAAEMDLEDGGEMPKQRDPKSN

1. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
2. 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. [PubMed:15489334 ]
3. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed:16959974 ]
4. Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G: SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet. 1999 Mar;21(3):297-301. [PubMed:10080183 ]
5. Torrents D, Estevez R, Pineda M, Fernandez E, Lloberas J, Shi YB, Zorzano A, Palacin M: Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. J Biol Chem. 1998 Dec 4;273(49):32437-45. [PubMed:9829974 ]
6. Pfeiffer R, Rossier G, Spindler B, Meier C, Kuhn L, Verrey F: Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family. EMBO J. 1999 Jan 4;18(1):49-57. [PubMed:9878049 ]
7. Noguchi A, Shoji Y, Koizumi A, Takahashi T, Matsumori M, Kayo T, Ohata T, Wada Y, Yoshimura I, Maisawa S, Konishi M, Takasago Y, Takada G: SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. Hum Mutat. 2000;15(4):367-72. [PubMed:10737982 ]
8. Dall'Asta V, Bussolati O, Sala R, Rotoli BM, Sebastio G, Sperandeo MP, Andria G, Gazzola GC: Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects. Am J Physiol Cell Physiol. 2000 Dec;279(6):C1829-37. [PubMed:11078698 ]
9. Sala R, Rotoli BM, Colla E, Visigalli R, Parolari A, Bussolati O, Gazzola GC, Dall'Asta V: Two-way arginine transport in human endothelial cells: TNF-alpha stimulation is restricted to system y(+). Am J Physiol Cell Physiol. 2002 Jan;282(1):C134-43. [PubMed:11742806 ]
10. Arancibia-Garavilla Y, Toledo F, Casanello P, Sobrevia L: Nitric oxide synthesis requires activity of the cationic and neutral amino acid transport system y+L in human umbilical vein endothelium. Exp Physiol. 2003 Nov;88(6):699-710. [PubMed:14603368 ]
11. Rotoli BM, Bussolati O, Sala R, Barilli A, Talarico E, Gazzola GC, Dall'Asta V: INFgamma stimulates arginine transport through system y+L in human monocytes. FEBS Lett. 2004 Jul 30;571(1-3):177-81. [PubMed:15280038 ]
12. Rotmann A, Simon A, Martine U, Habermeier A, Closs EI: Activation of classical protein kinase C decreases transport via systems y+ and y+L. Am J Physiol Cell Physiol. 2007 Jun;292(6):C2259-68. Epub 2007 Feb 28. [PubMed:17329401 ]
13. Kaneko S, Ando A, Okuda-Ashitaka E, Maeda M, Furuta K, Suzuki M, Matsumura M, Ito S: Ornithine transport via cationic amino acid transporter-1 is involved in ornithine cytotoxicity in retinal pigment epithelial cells. Invest Ophthalmol Vis Sci. 2007 Jan;48(1):464-71. [PubMed:17197568 ]
14. Torrents D, Mykkanen J, Pineda M, Feliubadalo L, Estevez R, de Cid R, Sanjurjo P, Zorzano A, Nunes V, Huoponen K, Reinikainen A, Simell O, Savontaus ML, Aula P, Palacin M: Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet. 1999 Mar;21(3):293-6. [PubMed:10080182 ]
15. Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, Andria G, Sebastio G, Borsani G: Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am J Hum Genet. 2000 Jan;66(1):92-9. [PubMed:10631139 ]
16. Mykkanen J, Torrents D, Pineda M, Camps M, Yoldi ME, Horelli-Kuitunen N, Huoponen K, Heinonen M, Oksanen J, Simell O, Savontaus ML, Zorzano A, Palacin M, Aula P: Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). Hum Mol Genet. 2000 Feb 12;9(3):431-8. [PubMed:10655553 ]
17. Shoji Y, Noguchi A, Shoji Y, Matsumori M, Takasago Y, Takayanagi M, Yoshida Y, Ihara K, Hara T, Yamaguchi S, Yoshino M, Kaji M, Yamamoto S, Nakai A, Koizumi A, Hokezu Y, Nagamatsu K, Mikami H, Kitajima I, Takada G: Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. Hum Mutat. 2002 Nov;20(5):375-81. [PubMed:12402335 ]
18. Sperandeo MP, Paladino S, Maiuri L, Maroupulos GD, Zurzolo C, Taglialatela M, Andria G, Sebastio G: A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. Eur J Hum Genet. 2005 May;13(5):628-34. [PubMed:15756301 ]
19. Sperandeo MP, Annunziata P, Ammendola V, Fiorito V, Pepe A, Soldovieri MV, Taglialatela M, Andria G, Sebastio G: Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. Hum Mutat. 2005 Apr;25(4):410. [PubMed:15776427 ]
20. Sperandeo MP, Andria G, Sebastio G: Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. Hum Mutat. 2008 Jan;29(1):14-21. [PubMed:17764084 ]