Structural basis for substrate specificity of heteromeric transporters of neutral amino acids

Despite having similar structures, each member of the heteromeric amino acid transporter (HAT) family shows exquisite preference for the exchange of certain amino acids. Substrate specificity determines the physiological function of each HAT and their role in human diseases. However, HAT transport p...

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Detalhes bibliográficos
Autores: Rodriguez, Carlos F., Escudero Bravo, Paloma, Díaz, Lucía, Bartoccioni, Paola, García Martín, Carmen, Gilabert, Joan G., Boskovic, Jasminka, Guallar, Víctor|||0000-0002-4580-1114, Errasti Murugarren, Ekaitz, Llorca, Oscar, Palacín, Manuel
Formato: artículo
Fecha de publicación:2021
País:España
Recursos:Universitat Politècnica de Catalunya (UPC)
Repositorio:UPCommons. Portal del coneixement obert de la UPC
Idioma:inglés
OAI Identifier:oai:upcommons.upc.edu:2117/358793
Acesso em linha:https://hdl.handle.net/2117/358793
https://dx.doi.org/10.1073/pnas.2113573118
Access Level:acceso abierto
Palavra-chave:Pathologies
Amino acid transporters
HATs
hLAT2
Substrate selectivity
Structure
Aminoàcids
Àrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica
Descrição
Resumo:Despite having similar structures, each member of the heteromeric amino acid transporter (HAT) family shows exquisite preference for the exchange of certain amino acids. Substrate specificity determines the physiological function of each HAT and their role in human diseases. However, HAT transport preference for some amino acids over others is not yet fully understood. Using cryo–electron microscopy of apo human LAT2/CD98hc and a multidisciplinary approach, we elucidate key molecular determinants governing neutral amino acid specificity in HATs. A few residues in the substrate-binding pocket determine substrate preference. Here, we describe mutations that interconvert the substrate profiles of LAT2/CD98hc, LAT1/CD98hc, and Asc1/CD98hc. In addition, a region far from the substrate-binding pocket critically influences the conformation of the substrate-binding site and substrate preference. This region accumulates mutations that alter substrate specificity and cause hearing loss and cataracts. Here, we uncover molecular mechanisms governing substrate specificity within the HAT family of neutral amino acid transporters and provide the structural bases for mutations in LAT2/CD98hc that alter substrate specificity and that are associated with several pathologies.