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