Abstract
ALS2, the causative gene product for juvenile recessive amyotrophic lateral sclerosis (ALS2), is a guanine-nucleotide exchange factor for the small GTPase Rab5. Here, we report a novel ALS2 homologous gene, ALS2 C-terminal like (ALS2CL), which encodes a 108-kD ALS2CL protein. ALS2CL exhibited a specific but a relatively weak Rab5-GEF activity with accompanying rather strong Rab5-binding properties. In HeLa cells, co-expression of ALS2CL and Rab5A resulted in a unique tubulation phenotype of endosome compartments with significant colocalization of ALS2CL and Rab5A. These results suggest that ALS2CL is a novel factor modulating the Rab5-mediated endosome dynamics in the cells.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing
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Alternative Splicing
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Amino Acid Sequence
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Amyotrophic Lateral Sclerosis / genetics
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Amyotrophic Lateral Sclerosis / metabolism
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Animals
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Carrier Proteins / genetics
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Carrier Proteins / metabolism*
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Endosomes / metabolism*
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Guanine Nucleotide Exchange Factors / genetics
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Guanine Nucleotide Exchange Factors / metabolism*
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HeLa Cells
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Humans
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Mice
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Molecular Sequence Data
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Protein Binding
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Protein Structure, Tertiary
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Sequence Alignment
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Subcellular Fractions / metabolism
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Tissue Distribution
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rab5 GTP-Binding Proteins / genetics
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rab5 GTP-Binding Proteins / metabolism*
Substances
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ALS2 protein, human
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ALS2CL protein, human
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ALS2CL protein, mouse
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Adaptor Proteins, Signal Transducing
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Carrier Proteins
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Guanine Nucleotide Exchange Factors
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rab5 GTP-Binding Proteins
Associated data
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GENBANK/AB107015
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GENBANK/AB107016