Protein information
  Protein summary    Phosphorylation site    Dephosphorylation site    Mutation site
  Differential expressed protein    Hyperphosphorylation site    Direct interaction pair    Function Annotation

Protein Summary
UniProt/SwissProt ID:HD_HUMAN
Description:huntingtin [Source:HGNC Symbol;Acc:4851]
Location:chr4 p16.3
Node attribute:substrate; gene

Phosphorylation site
PositionPhosphoPeptideCatalytic kinaseSource
S114NIVAQsVRNSPPhosphoSitePlus
S1181NPPSLsPIRRKHPRD; RegPhos; SysPTM
S13MKAFEsLKSFQPhosphoSitePlus
T3___MAtLEKLMPhosphoSitePlus
S2814SDYLLsNLKGIHPRD
S1199ASVPLsPKKGSPhosphoSitePlus
S1111RSSWAsEEEANPhosphoSitePlus
S2948PAAPDsESVIVPhosphoSitePlus
T1215SRQSDtSGPVTPhosphoSitePlus
S2950APDSEsVIVAMPhosphoSitePlus
S16FESLKsFQQQQPhosphoSitePlus
S429IAGGGsSCSPVPhosphoSitePlus
S430AGGGSsCSPVLPhosphoSitePlus
S431IAGGGsSCSPVHPRD
S276AGSAVsICQHSHEAT_2PhosphoSitePlus
S2651APAPSsPPTSPPhosphoSitePlus
S2076DSLSPsPPVSSHPRD; RegPhos
T343GSFGVtRKEMEHPRD
T407GIGQLtAAKEEHPRD; phosphoELM
S421RSRSGsIVELIphosphoELM; RegPhos
S1805TRLFRsDGCGGPhosphoSitePlus
S2655SSPPTsPVNSRPhosphoSitePlus
S2382GHKRNsGVPAFPhosphoSitePlus
S2766VAEPVsRLLESHPRD
S1876LSPQMsGEEEDHPRD; phosphoELM; RegPhos; SysPTM
S2892LSEQLsRLDAEPhosphoSitePlus
S1811DGCGGsFYTLDPhosphoSitePlus
S2653APAPSsPPTSPHPRD; RegPhos
S419GGRSRsGSIVEHPRD
S1104ASAPKsLRSSWPhosphoSitePlus
S421RSRSGsIVELIAKT_groupRegPhos
S2074DSLSPsPPVSSPhosphoSitePlus
S2233YLVVVsKLPSHDUF3652PhosphoSitePlus
S1872STKLLsPQMSGHPRD; phosphoELM; SysPTM
T1120ANPAAtKQEEVPhosphoSitePlus
S1210EASAAsRQSDTPhosphoSitePlus
S1229SSSLGsFYHLPPhosphoSitePlus
S1195PGEQAsVPLSPPhosphoSitePlus
S417GGRSRsGSIVEPhosphoSitePlus
S413AAKEEsGGRSRHPRD; phosphoELM; SysPTM
T1322KTLFGtNLASQPhosphoSitePlus
S436CSPVLsRKQKGPhosphoSitePlus
S1862TPKRHsLSSTKPhosphoSitePlus
T796MGTIRtLTGNTHEAT_2PhosphoSitePlus
S421RSRSGsIVELIPKB_groupphosphoELM
S2764VAEPVsRLLESPhosphoSitePlus
S640HCRQPsDSSVDPhosphoSitePlus
T1814GGSFYtLDSLNPhosphoSitePlus
S1179NPPSLsPIRRKPhosphoSitePlus
S432AGGGSsCSPVLHPRD
S1201ASVPLsPKKGSHPRD; RegPhos; SysPTM
S419RSRSGsIVELIPhosphoSitePlus
S415ESGGRsRSGSIPhosphoSitePlus
S1197PGEQAsVPLSPHPRD; SysPTM
S1177LTNPPsLSPIRPhosphoSitePlus
S421RSRSGsIVELISGK_groupphosphoELM; RegPhos
Y1813CGGSFyTLDSLPhosphoSitePlus
S534ILSHSsSQVSAPhosphoSitePlus
S1874LSPQMsGEEEDPhosphoSitePlus
T2940VSPGRtSDPNPHPRD; phosphoELM
S421RSRSGsIVELIAKT1HPRD; RegPhos
S930HVAAAsLIRLVHEATPhosphoSitePlus
S432GGSSCsPVLSRPhosphoSitePlus
S1870STKLLsPQMSGPhosphoSitePlus
S434GGSSCsPVLSRHPRD; phosphoELM; RegPhos
S411AAKEEsGGRSRPhosphoSitePlus
T486SSGVStPGSAGPhosphoSitePlus

Dephosphorylation site
HD_HUMAN do not have dephosphorylation site.

Mutation site
Ensembl IDVariationSourceCancer namePubmed
ENSP00000347184K442*BIOMARTHepatocellular Carcinoma21930507, 21930502
ENSP00000347184W2420RCOSMICOvarian Cancer21720365
ENSP00000347184A2569VCOSMICSkin Cancer21984974
ENSP00000347184E1753KCOSMICMelanoma21499247
ENSP00000347184E615*Ding2008, COSMICLung Cancer18948947
ENSP00000347184S348FCOSMICSkin Cancer21984974
ENSP00000347184E1192KCOSMICSkin Cancer21984974
ENSP00000347184R1423CCOSMICMelanoma21499247

Differential expressed protein
HD_HUMAN is not differential expressed protein.

Hyperphosphorylation site
SiteMotifPeptideCancer namePubmedSource
S16KAFESLKsFQQQQQQHuntington's disease20064390PhosphoSitePlus
S13KLMKAFEsLKSFQQQHuntington's disease20064390PhosphoSitePlus

Direct Interaction Pair
SourceTargetRelationshipResource
ZAGL2_HUMANHD_HUMANkinase -> substrateRegPhos
AKT1_HUMANHD_HUMANkinase -> substrateRegPhos
SGK1_HUMANHD_HUMANkinase -> substrateRegPhos
S2A4R_HUMANHD_HUMANTF -> target geneTRANSFAC
ZN395_HUMANHD_HUMANTF -> target geneTRANSFAC

Function Annotation
KEGG Pathway
KEGG IDPathway
hsa05016Huntington's disease

Gene Ontology
GO IDGO_TermEvidenceOntology
GO:0007569cell agingIEAbiological_process
GO:0008542visual learningIEAbiological_process
GO:0045505dynein intermediate chain bindingIDAmolecular_function
GO:0034047regulation of protein phosphatase type 2A activityIMPbiological_process
GO:0030424axonIDAcellular_component
GO:0007420brain developmentIEAbiological_process
GO:0051592response to calcium ionIEAbiological_process
GO:0051938L-glutamate importIEAbiological_process
GO:0008340determination of adult lifespanIEAbiological_process
GO:0007417central nervous system developmentIEAbiological_process
GO:0009653anatomical structure morphogenesisIEAbiological_process
GO:0016023cytoplasmic membrane-bounded vesicleIEAcellular_component
GO:0007626locomotory behaviorIEAbiological_process
GO:0005737cytoplasmIDAcellular_component
GO:0051402neuron apoptotic processIEAbiological_process
GO:0048513organ developmentIBAbiological_process
GO:0043234protein complexIDAcellular_component
GO:0005488bindingIEAmolecular_function
GO:0002039p53 bindingIPImolecular_function
GO:0006915apoptotic processIEAbiological_process
GO:0000050urea cycleIEAbiological_process
GO:0019805quinolinate biosynthetic processIEAbiological_process
GO:0048666neuron developmentIEAbiological_process
GO:0005783endoplasmic reticulumIDAcellular_component
GO:0021756striatum developmentIEAbiological_process
GO:0050809diazepam bindingIEAmolecular_function
GO:0005794Golgi apparatusIDAcellular_component
GO:0007030Golgi organizationIMPbiological_process
GO:0005770late endosomeIDAcellular_component
GO:0008306associative learningIEAbiological_process
GO:0016197endosomal transportIEAbiological_process
GO:0043524negative regulation of neuron apoptotic processIEAbiological_process
GO:0005515protein bindingIPImolecular_function
GO:0035176social behaviorIEAbiological_process
GO:0006890retrograde vesicle-mediated transport, Golgi to ERIMPbiological_process
GO:0030073insulin secretionIEAbiological_process
GO:0021990neural plate formationIEAbiological_process
GO:0019244lactate biosynthetic process from pyruvateIEAbiological_process
GO:0000052citrulline metabolic processIEAbiological_process
GO:0016234inclusion bodyIEAcellular_component
GO:0046902regulation of mitochondrial membrane permeabilityIEAbiological_process
GO:0048167regulation of synaptic plasticityIEAbiological_process
GO:0007212dopamine receptor signaling pathwayIEAbiological_process
GO:0030424axonIEAcellular_component
GO:2001237negative regulation of extrinsic apoptotic signaliIMPbiological_process
GO:0008134transcription factor bindingIBAmolecular_function
GO:0005737cytoplasmIEAcellular_component
GO:0055072iron ion homeostasisIEAbiological_process
GO:0007611learning or memoryIEAbiological_process
GO:0005515protein bindingIEAmolecular_function
GO:0005829cytosolIDAcellular_component
GO:0022008neurogenesisIEAbiological_process
GO:0006839mitochondrial transportIEAbiological_process
GO:0009952anterior/posterior pattern specificationIEAbiological_process
GO:0007029endoplasmic reticulum organizationIEAbiological_process
GO:0007005mitochondrion organizationIEAbiological_process
GO:0030425dendriteIDAcellular_component
GO:0048487beta-tubulin bindingIDAmolecular_function
GO:0047496vesicle transport along microtubuleIEAbiological_process
GO:0000132establishment of mitotic spindle orientationIMPbiological_process
GO:0005634nucleusIDAcellular_component
GO:0034452dynactin bindingIPImolecular_function
GO:0047496vesicle transport along microtubuleIMPbiological_process
GO:0008088axon cargo transportIEAbiological_process
GO:0051881regulation of mitochondrial membrane potentialIEAbiological_process
GO:0021988olfactory lobe developmentIEAbiological_process
GO:0008134transcription factor bindingIEAmolecular_function
GO:0005776autophagic vacuoleIDAcellular_component
GO:0007283spermatogenesisIEAbiological_process
GO:0042445hormone metabolic processIEAbiological_process
GO:0007612learningIEAbiological_process
GO:0007369gastrulationIEAbiological_process
GO:0030659cytoplasmic vesicle membraneIDAcellular_component
GO:0006606protein import into nucleusIEAbiological_process
GO:0009790embryo developmentIEAbiological_process
GO:0006888ER to Golgi vesicle-mediated transportIEAbiological_process
GO:0043066negative regulation of apoptotic processIEAbiological_process
GO:0030072peptide hormone secretionIEAbiological_process
GO:0048341paraxial mesoderm formationIEAbiological_process
GO:0007610behaviorIEAbiological_process