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gptkbp:instanceOf
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gptkb:protein
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gptkbp:alternativeName
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Huntingtin
HTT protein
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gptkbp:associatedWith
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gptkb:Huntington's_disease
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gptkbp:discoveredBy
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Huntington's Disease Collaborative Research Group
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gptkbp:discoveredIn
|
1993
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gptkbp:encodedBy
|
HTT gene
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gptkbp:expressedIn
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gptkb:testis
brain
other tissues
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gptkbp:foundIn
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gptkb:Homo_sapiens
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gptkbp:function
|
regulates transcription
involved in neuronal development
involved in vesicle transport
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|
https://www.w3.org/2000/01/rdf-schema#label
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huntingtin protein
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gptkbp:length
|
3144 amino acids
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gptkbp:locatedOnChromosome
|
gptkb:chromosome_4p16.3
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gptkbp:location
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gptkb:nucleus
gptkb:cytoplasm
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gptkbp:molecularWeight
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~350 kDa
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gptkbp:mutationAssociatedWith
|
polyglutamine expansion causes Huntington's disease
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gptkbp:orthologIn
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gptkb:mouse
gptkb:zebrafish
gptkb:Drosophila_melanogaster
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gptkbp:postTranslationalModification
|
phosphorylation
sumoylation
ubiquitination
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gptkbp:structure
|
contains polyglutamine tract
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gptkbp:UniProtID
|
P42858
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gptkbp:bfsParent
|
gptkb:HTT
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gptkbp:bfsLayer
|
7
|