TY - JOUR
T1 - The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia
AU - Ciccarelli, Francesca D.
AU - Proukakis, Christos
AU - Patel, Heema
AU - Cross, Harold
AU - Azam, Shakil
AU - Patton, Michael A.
AU - Bork, Peer
AU - Crosby, Andrew H.
PY - 2003/4/1
Y1 - 2003/4/1
N2 - Multiple sequence alignment has revealed the presence of a sequence domain of ∼80 amino acids in two molecules, spartin and spastin, mutated in hereditary spastic paraplegia. The domain, which corresponds to a slightly extended version of the recently described ESP domain of unknown function, was also identified in VPS4, SKD1, RPK118, and SNX15, all of which have a well established and consistent role in endosomal trafficking. Recent functional information indicates that spastin is likely to be involved in microtubule interaction. With this new information relating to its likely function, we propose the more descriptive name 'MIT' (contained within microtubule-interacting and trafficking molecules) for the domain and predict endosomal trafficking as the principal functionality of all molecules in which it is present.
AB - Multiple sequence alignment has revealed the presence of a sequence domain of ∼80 amino acids in two molecules, spartin and spastin, mutated in hereditary spastic paraplegia. The domain, which corresponds to a slightly extended version of the recently described ESP domain of unknown function, was also identified in VPS4, SKD1, RPK118, and SNX15, all of which have a well established and consistent role in endosomal trafficking. Recent functional information indicates that spastin is likely to be involved in microtubule interaction. With this new information relating to its likely function, we propose the more descriptive name 'MIT' (contained within microtubule-interacting and trafficking molecules) for the domain and predict endosomal trafficking as the principal functionality of all molecules in which it is present.
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U2 - 10.1016/S0888-7543(03)00011-9
DO - 10.1016/S0888-7543(03)00011-9
M3 - Article
C2 - 12676568
AN - SCOPUS:0037381932
SN - 0888-7543
VL - 81
SP - 437
EP - 441
JO - Genomics
JF - Genomics
IS - 4
ER -