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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)
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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)
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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]
