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

We have identified a new human cDNA (y+L amino acid transporter-1 (y+LAT-1)) that induces system y+L transport activity with 4F2hc (the surface antigen 4F2 heavy chain) in oocytes. Human y+LAT-1 is a new member of a family of polytopic transmembrane proteins that are homologous to the yeast high aff...

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Autores: Torrents Arenales, David, Estévez Povedano, Raúl, Pineda Riu, Marta, Fernández, Esperanza, Lloberas Cavero, Jorge, Shi, Yun-Bo, Zorzano Olarte, Antonio, Palacín Prieto, Manuel
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:1998
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/176951
Acceso en línea:https://hdl.handle.net/2445/176951
Access Level:acceso abierto
Palabra clave:Aminoàcids
Metabolisme
Errors congènits del metabolisme
Genètica
Antígens
Proteïnes portadores
Lisina
Orina
Amino acids
Metabolism
Inborn errors of metabolism
Genetics
Antigens
Carrier proteins
Lysine
Urine
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repository_id_str
spelling 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 intoleranceTorrents Arenales, DavidEstévez Povedano, RaúlPineda Riu, MartaFernández, EsperanzaLloberas Cavero, JorgeShi, Yun-BoZorzano Olarte, AntonioPalacín Prieto, ManuelAminoàcidsMetabolismeErrors congènits del metabolismeGenèticaAntígensProteïnes portadoresLisinaOrinaAmino acidsMetabolismInborn errors of metabolismGeneticsAntigensCarrier proteinsLysineUrineWe have identified a new human cDNA (y+L amino acid transporter-1 (y+LAT-1)) that induces system y+L transport activity with 4F2hc (the surface antigen 4F2 heavy chain) in oocytes. Human y+LAT-1 is a new member of a family of polytopic transmembrane proteins that are homologous to the yeast high affinity methionine permease MUP1. Other members of this family, the Xenopus laevis IU12 and the human KIAA0245 cDNAs, also co-express amino acid transport activity with 4F2hc in oocytes, with characteristics that are compatible with those of systems L and y+L, respectively. y+LAT-1 protein forms a approximately 135-kDa, disulfide bond-dependent heterodimer with 4F2hc in oocytes, which upon reduction results in two protein bands of approximately 85 kDa (i.e. 4F2hc) and approximately 40 kDa (y+LAT-1). Mutation of the human 4F2hc residue cysteine 109 (Cys-109) to serine abolishes the formation of this heterodimer and drastically reduces the co-expressed transport activity. These data suggest that y+LAT-1 and other members of this family are different 4F2 light chain subunits, which associated with 4F2hc, constitute different amino acid transporters. Human y+LAT-1 mRNA is expressed in kidney >> peripheral blood leukocytes >> lung > placenta = spleen > small intestine. The human y+LAT-1 gene localizes at chromosome 14q11.2 (17cR approximately 374 kb from D14S1350), within the lysinuric protein intolerance (LPI) locus (Lauteala, T., Sistonen, P. , Savontaus, M. L., Mykkanen, J., Simell, J., Lukkarinen, M., Simmell, O., and Aula, P. (1997) Am. J. Hum. Genet. 60, 1479-1486). LPI is an inherited autosomal disease characterized by a defective dibasic amino acid transport in kidney, intestine, and other tissues. The pattern of expression of human y+LAT-1, its co-expressed transport activity with 4F2hc, and its chromosomal location within the LPI locus, suggest y+LAT-1 as a candidate gene for LPI.American Society for Biochemistry and Molecular Biology1998info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/176951Articles publicats en revistes (Ciències Fisiològiques)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1074/jbc.273.49.32437Journal of Biological Chemistry, 1998, vol. 273, num. 49, p. 32437-32445https://doi.org/10.1074/jbc.273.49.32437(c) American Society for Biochemistry and Molecular Biology, 1998info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1769512026-05-27T06:46:51Z
dc.title.none.fl_str_mv 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
title 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
spellingShingle 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
Torrents Arenales, David
Aminoàcids
Metabolisme
Errors congènits del metabolisme
Genètica
Antígens
Proteïnes portadores
Lisina
Orina
Amino acids
Metabolism
Inborn errors of metabolism
Genetics
Antigens
Carrier proteins
Lysine
Urine
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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
dc.creator.none.fl_str_mv Torrents Arenales, David
Estévez Povedano, Raúl
Pineda Riu, Marta
Fernández, Esperanza
Lloberas Cavero, Jorge
Shi, Yun-Bo
Zorzano Olarte, Antonio
Palacín Prieto, Manuel
author Torrents Arenales, David
author_facet Torrents Arenales, David
Estévez Povedano, Raúl
Pineda Riu, Marta
Fernández, Esperanza
Lloberas Cavero, Jorge
Shi, Yun-Bo
Zorzano Olarte, Antonio
Palacín Prieto, Manuel
author_role author
author2 Estévez Povedano, Raúl
Pineda Riu, Marta
Fernández, Esperanza
Lloberas Cavero, Jorge
Shi, Yun-Bo
Zorzano Olarte, Antonio
Palacín Prieto, Manuel
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Aminoàcids
Metabolisme
Errors congènits del metabolisme
Genètica
Antígens
Proteïnes portadores
Lisina
Orina
Amino acids
Metabolism
Inborn errors of metabolism
Genetics
Antigens
Carrier proteins
Lysine
Urine
topic Aminoàcids
Metabolisme
Errors congènits del metabolisme
Genètica
Antígens
Proteïnes portadores
Lisina
Orina
Amino acids
Metabolism
Inborn errors of metabolism
Genetics
Antigens
Carrier proteins
Lysine
Urine
description We have identified a new human cDNA (y+L amino acid transporter-1 (y+LAT-1)) that induces system y+L transport activity with 4F2hc (the surface antigen 4F2 heavy chain) in oocytes. Human y+LAT-1 is a new member of a family of polytopic transmembrane proteins that are homologous to the yeast high affinity methionine permease MUP1. Other members of this family, the Xenopus laevis IU12 and the human KIAA0245 cDNAs, also co-express amino acid transport activity with 4F2hc in oocytes, with characteristics that are compatible with those of systems L and y+L, respectively. y+LAT-1 protein forms a approximately 135-kDa, disulfide bond-dependent heterodimer with 4F2hc in oocytes, which upon reduction results in two protein bands of approximately 85 kDa (i.e. 4F2hc) and approximately 40 kDa (y+LAT-1). Mutation of the human 4F2hc residue cysteine 109 (Cys-109) to serine abolishes the formation of this heterodimer and drastically reduces the co-expressed transport activity. These data suggest that y+LAT-1 and other members of this family are different 4F2 light chain subunits, which associated with 4F2hc, constitute different amino acid transporters. Human y+LAT-1 mRNA is expressed in kidney >> peripheral blood leukocytes >> lung > placenta = spleen > small intestine. The human y+LAT-1 gene localizes at chromosome 14q11.2 (17cR approximately 374 kb from D14S1350), within the lysinuric protein intolerance (LPI) locus (Lauteala, T., Sistonen, P. , Savontaus, M. L., Mykkanen, J., Simell, J., Lukkarinen, M., Simmell, O., and Aula, P. (1997) Am. J. Hum. Genet. 60, 1479-1486). LPI is an inherited autosomal disease characterized by a defective dibasic amino acid transport in kidney, intestine, and other tissues. The pattern of expression of human y+LAT-1, its co-expressed transport activity with 4F2hc, and its chromosomal location within the LPI locus, suggest y+LAT-1 as a candidate gene for LPI.
publishDate 1998
dc.date.none.fl_str_mv 1998
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/176951
url https://hdl.handle.net/2445/176951
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1074/jbc.273.49.32437
Journal of Biological Chemistry, 1998, vol. 273, num. 49, p. 32437-32445
https://doi.org/10.1074/jbc.273.49.32437
dc.rights.none.fl_str_mv (c) American Society for Biochemistry and Molecular Biology, 1998
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) American Society for Biochemistry and Molecular Biology, 1998
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv American Society for Biochemistry and Molecular Biology
publisher.none.fl_str_mv American Society for Biochemistry and Molecular Biology
dc.source.none.fl_str_mv Articles publicats en revistes (Ciències Fisiològiques)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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