Abstract
Huntington disease (HD) is an inherited neurodegenerative disorder which is associated with CAG expansion in the coding region of the gene for huntingtin protein. Recently, a huntingtin interacting protein, HIP1, was isolated by the yeast two-hybrid system. Here we report the isolation of a cDNA clone for HIP1R (huntingtin interacting protein-1 related), which encodes a predicted protein product sharing a striking homology with HIP1. RT-PCR analysis showed that the messenger RNA was ubiquitously expressed in various human tissues. Based on PCR-assisted analysis of a radiation hybrid panel and fluorescence in situ hybridization, HIP1R was localized to the q24 region of chromosome 12.
MeSH terms
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Adaptor Proteins, Signal Transducing
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Amino Acid Sequence
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Carrier Proteins / chemistry
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Carrier Proteins / genetics
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Chromosome Mapping
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Chromosomes, Human, Pair 12*
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Cloning, Molecular
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Cytoskeletal Proteins
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DNA-Binding Proteins*
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Fungal Proteins / genetics
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Gene Expression
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Humans
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Huntington Disease / genetics*
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In Situ Hybridization, Fluorescence
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Microfilament Proteins
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Molecular Sequence Data
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Neuroblastoma / genetics
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Saccharomyces cerevisiae Proteins*
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Sequence Alignment
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Tumor Cells, Cultured
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Vesicular Transport Proteins
Substances
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Adaptor Proteins, Signal Transducing
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Carrier Proteins
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Cytoskeletal Proteins
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DNA-Binding Proteins
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Fungal Proteins
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HIP1 protein, human
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HIP1R protein, human
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Microfilament Proteins
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SLA2 protein, S cerevisiae
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Saccharomyces cerevisiae Proteins
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Vesicular Transport Proteins