We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Enzymes ENZYME proteins Transferases Kinases CAMK Ser/Thr protein kinases MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004672 [protein kinase activity] GO:0004674 [protein serine/threonine kinase activity] GO:0005085 [guanyl-nucleotide exchange factor activity] GO:0005089 [Rho guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005829 [cytosol] GO:0006468 [protein phosphorylation] GO:0007165 [signal transduction] GO:0007264 [small GTPase mediated signal transduction] GO:0007399 [nervous system development] GO:0007411 [axon guidance] GO:0015629 [actin cytoskeleton] GO:0016192 [vesicle-mediated transport] GO:0035023 [regulation of Rho protein signal transduction] GO:0035556 [intracellular signal transduction] GO:0043065 [positive regulation of apoptotic process] GO:0043547 [positive regulation of GTPase activity] GO:0046872 [metal ion binding] GO:0048011 [neurotrophin TRK receptor signaling pathway] GO:0048013 [ephrin receptor signaling pathway] GO:0051056 [regulation of small GTPase mediated signal transduction] GO:0070062 [extracellular exosome] GO:0097190 [apoptotic signaling pathway]
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity] GO:0035023 [regulation of Rho protein signal transduction] GO:0043547 [positive regulation of GTPase activity]
Enzymes ENZYME proteins Transferases Kinases CAMK Ser/Thr protein kinases Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004674 [protein serine/threonine kinase activity] GO:0005085 [guanyl-nucleotide exchange factor activity] GO:0005089 [Rho guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005829 [cytosol] GO:0006468 [protein phosphorylation] GO:0007165 [signal transduction] GO:0007264 [small GTPase mediated signal transduction] GO:0007399 [nervous system development] GO:0007411 [axon guidance] GO:0015629 [actin cytoskeleton] GO:0016192 [vesicle-mediated transport] GO:0035023 [regulation of Rho protein signal transduction] GO:0035556 [intracellular signal transduction] GO:0043065 [positive regulation of apoptotic process] GO:0043547 [positive regulation of GTPase activity] GO:0046872 [metal ion binding] GO:0048011 [neurotrophin TRK receptor signaling pathway] GO:0048013 [ephrin receptor signaling pathway] GO:0051056 [regulation of small GTPase mediated signal transduction] GO:0070062 [extracellular exosome] GO:0097190 [apoptotic signaling pathway]
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity] GO:0035023 [regulation of Rho protein signal transduction] GO:0043547 [positive regulation of GTPase activity]