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Huntingtin (human)

Overview Huntingtin may play a role in microtubule-mediated transport or vesicle function. Widely expressed with the highest level of expression in the brain (nerve fibers, varicosities, and nerve endings). In the brain, the regions where it can be mainly found are the cerebellar cortex, the neocortex, the striatum, and the hippocampal formation. Defects are the cause of Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the Huntingtin gene, which translates as a polyglutamine repeat in the protein product. The Huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The Huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated isoforms displaying different relative abundance in various fetal and adult tissues. Note: This description may include information from UniProtKB. Protein type: Cytoskeletal protein Cellular Component: Golgi apparatus; cytoplasmic vesicle membrane; protein complex; endoplasmic reticulum; dendrite; autophagic vacuole; inclusion body; cytosol; axon; late endosome; cytoplasm; nucleolus; nucleus Molecular Function: protein binding; p53 binding; dynein intermediate chain binding; beta-tubulin binding; diazepam binding; transcription factor binding Biological Process: ER to Golgi vesicle-mediated transport; paraxial mesoderm formation; citrulline metabolic process; regulation of protein phosphatase type 2A activity; regulation of synaptic plasticity; locomotory behavior; determination of adult life span; endosome transport; anterior/posterior pattern formation; L-glutamate import; establishment of mitotic spindle orientation; regulation of mitochondrial membrane potential; protein import into nucleus; quinolinate biosynthetic process; organ development; vesicle transport along microtubule; retrograde vesicle-mediated transport, Golgi to ER; visual learning; negative regulation of neuron apoptosis; Golgi organization and biogenesis; endoplasmic reticulum organization and biogenesis; striatum development; axon cargo transport; cell aging; olfactory lobe development; social behavior; lactate biosynthetic process from pyruvate; neuron apoptosis; iron ion homeostasis; insulin secretion; dopamine receptor signaling pathway; hormone metabolic process; neuron development; spermatogenesis; regulation of mitochondrial membrane permeability; response to calcium ion; neural plate formation; urea cycle Reference #:  P42858 (UniProtKB) Alt. Names/Synonyms: HD; HD protein; HTT; Huntingtin; Huntington disease protein; IT15 Gene Symbols: HTT Molecular weight: 347,603 Da Basal Isoelectric point: 5.81  Predict pI for various phosphorylation states CST Pathways:  PI3K/Akt Signaling Protein-Specific Antibodies or siRNAs from Cell Signaling Technology®

Select Structure to View Below Huntingtin 2D3X - A=201-327 (human) 2LD0 - A=1-17 (human) 2LD2 - A=1-17 (human) 3IO4 - A/C/B=1-66 (human) 3IO6 - A/C/B=1-66 (human) 3IOR - A/C/B=1-66 (human) 3IOT - A/C/B=1-66 (human) 3IOU - A/C/B=1-66 (human) 3IOV - A/C/B=1-66 (human) 3IOW - A/C/B=1-66 (human) 3LRH - H/F/J/N/D/P/L/B=5-18 (human) 4FE8 - A/C/B=1-64 (human) 4FEB - A/C/B=1-64 (human) 4FEC - A/C/B=1-64 (human) 4FED - A/C/B=1-64 (human)

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  RCSB PDB 2D3X 2LD0 2LD2 3IO4 3IO6 3IOR 3IOT 3IOU 3IOV 3IOW 3LRH 4FE8 4FEB 4FEC 4FED  |  Phospho3D  |  DISEASE 143100 613004  |  Source  |  InnateDB  |  UCSD-Nature  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	Sites Implicated In
apoptosis, inhibited: S419‑p cytoskeletal reorganization: S419‑p activation: S419‑p molecular association, regulation: T3‑p, S419‑p protein degradation: S429‑p protein stabilization: S430‑p, S534‑p

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
2	1		T3-p	_____MAtLEkLMkA
0	1		K6-a	__MAtLEkLMkAFEs
1	0		K6-s	__MAtLEkLMkAFEs
2	0		K9-a	AtLEkLMkAFEsLks
1	0		K9-s	AtLEkLMkAFEsLks
5	1		S13-p	kLMkAFEsLksFQQQ
1	0		K15-s	MkAFEsLksFQQQQQ
6	0		S16-p	kAFEsLksFQQQQQQ
0	1		K96-a	KKELSATkKDRVNHC
0	1		S114-p	CENIVAQsVRNSPEF
1	0		K176-a	ELYKEIKkNGAPRSL
1	0		K234-a	TLAAAVPkIMASFGN
0	1		T265	NLKSSSPTIRRTAAG
0	1		S276-p	TAAGSAVsICQHSRR
1	0		K343-a	GSFGVTRkEMEVSPS
0	1		S411-p	LTAAKEEsGGRsRsG
0	4		S415-p	KEEsGGRsRsGsIVE
0	14		S417-p	EsGGRsRsGsIVELI
6	26		S419-p	GGRsRsGsIVELIAG
1	2		S429-p	ELIAGGGssCsPVLs
1	5		S430-p	LIAGGGssCsPVLsR
1	61		S432-p	AGGGssCsPVLsRKQ
0	4		S436-p	ssCsPVLsRKQKGkV
2	0		K442-a	LsRKQKGkVLLGEEE
1	1		K442-u	LsRKQKGkVLLGEEE
0	1		T486-p	AASSGVStPGSAGHD
0	1		S534-p	EDILSHSsSQVSAVP
0	12		S640-p	MSHCRQPsDSSVDKF
0	2		S643	CRQPsDSSVDKFVLR
0	2		G657	RDEATEPGDQENKPC
0	1		T796-p	DWMGTIRtLTGNTFS
0	1		K813	DCIPLLRKTLKDESS
0	1		S930-p	VRHVAAAsLIRLVPK
0	1		K941	LVPKLFYKCDQGQAD
0	1		S1055	GVPPLSASDESRKSC
0	1		S1058	PLSASDESRKSCTVG
0	1		S1104-p	LAASAPKsLRSSWAs
0	1		S1111-p	sLRSSWAsEEEANPA
0	1		T1120-p	EEANPAAtKQEEVWP
0	1		S1177-p	PSLTNPPsLsPIRRK
1	15		S1179-p	LTNPPsLsPIRRKGK
0	1		S1195-p	KEPGEQAsVPLsPKK
1	8		S1199-p	EQAsVPLsPKKGSEA
0	1		S1210-p	GSEASAAsRQSDtSG
0	1		T1215-p	AAsRQSDtSGPVTTS
0	1		S1229-p	SKSSSLGsFYHLPSY
0	1		K1238	YHLPSYLKLHDVLKA
0	2		K1262-u	DLQNSTEkFGGFLRS
0	1		T1322-p	LLKTLFGtNLASQFD
0	1		K1337	GLSSNPSKSQGRAQR
0	1		K1402-u	QKVSTQLkTNLTSVT
0	1		T1403	KVSTQLkTNLTSVTK
0	1		T1406	TQLkTNLTSVTKNRA
0	1		S1407	QLkTNLTSVTKNRAD
0	1		T1409	kTNLTSVTKNRADKN
0	1		K1410	TNLTSVTKNRADKNA
0	1		K1431	LFEPLVIKALKQYTT
0	1		S1627	KQQMHIDSHEALGVL
0	1		K1730	LEEHSEGKQIKNLPE
0	1		R1801	RITAAATRLFRsDGC
0	1		S1805-p	AATRLFRsDGCGGsF
0	1		S1811-p	RsDGCGGsFytLDSL
0	1		Y1813-p	DGCGGsFytLDSLNL
0	1		T1814-p	GCGGsFytLDSLNLR
0	1		T1857	WWAEVQQTPKRHsLs
0	3		S1862-p	QQTPKRHsLsSTKLL
0	1		S1864-p	TPKRHsLsSTKLLsP
0	3		S1870-p	LsSTKLLsPQMsGEE
0	14		S1874-p	KLLsPQMsGEEEDSD
0	1		S2074-p	MQDSLSPsPPVSSHP
0	1		S2233-p	AQYLVVVsKLPSHLH
0	1		K2337-a	ERRTNTPkAISEEEE
0	1		S2382-p	ALGHKRNsGVPAFLT
0	1		K2417-u	RVPPLVWkLGWSPKP
0	2		S2651-p	ADAPAPSsPPTsPVN
0	3		S2655-p	APSsPPTsPVNSRKH
0	1		S2764-p	KAVAEPVsRLLESTL
0	1		S2888	GLERLLLSEQLsRLD
0	1		S2892-p	LLLSEQLsRLDAESL
0	1		A2896	EQLsRLDAESLVKLS
0	1		S2898	LsRLDAESLVKLSVD
0	1		A2945	TSDPNPAAPDsEsVI
0	2		S2948-p	PNPAAPDsEsVIVAM
0	2		S2950-p	PAAPDsEsVIVAMER

	mouse
T3-p	_____MAtLEKLMkA
K6	__MAtLEKLMkAFEs
K6	__MAtLEKLMkAFEs
K9-a	AtLEKLMkAFEsLKs
K9	AtLEKLMKAFEsLKs
S13-p	KLMkAFEsLKsFQQQ
K15	MkAFEsLKsFQQQQQ
S16-p	kAFEsLKsFQQQQQQ
K75	KKELSATKKDRVNHC
S93	CENIVAQSLRNSPEF
K155	ELYKEIKKNGAPRSL
K213	TLAAAVPKIMASFGN
T244-p	NLKSSSPtVRRTAAG
S255	TAAGSAVSICQHSRR
K322	GSFGVTRKEMEVSPS
A390	LTLVQEEARGRGRsG
G394	QEEARGRGRsGsIVE
S396-p	EARGRGRsGsIVELL
S398-p	RGRGRsGsIVELLAG
S408-p	ELLAGGGssCsPVLs
S409-p	LLAGGGssCsPVLsR
S411-p	AGGGssCsPVLsRKQ
S415-p	ssCsPVLsRKQKGKV
K421	LsRKQKGKVLLGEEE
K421	LsRKQKGKVLLGEEE
T465	AASSGVSTPGSVGHD
S513	EDILSHSSSQFSAVP
S620-p	MGHSRQPsDSsIDKY
S623-p	SRQPsDSsIDKYVTR
S637-p	RDEVAEAsDPESKPC
T776	DWLGNIRTLTGNTFS
K793-u	DCIPLLQkTLKDESS
S910	VRHVAATSLTRLVPK
K921-u	LVPKLFYkCDQGQAD
S1035-p	GVPPLSAsDEsRKSC
S1038-p	PLSAsDEsRKSCTVG
S1084	LAASAPKSLRSSWTS
S1091	SLRSSWTSEEEANSA
T1100	EEANSAATRQEEIWP
S1157	PSLTNPPSLsPIRRK
S1159-p	LTNPPSLsPIRRKGK
S1175	KEPGEQASTPMsPKK
S1179-p	EQASTPMsPKKVGEA
S1190	VGEASAASRQSDTSG
T1195	AASRQSDTSGPVTAS
S1209	SKSSSLGSFYHLPSY
K1218-u	YHLPSYLkLHDVLKA
K1242-u	DLQNSTEkFGGFLRS
T1302	LLKTLFGTNLASQFD
K1317-u	GLSSNPSkSQCRAQR
K1382	QKVSAQLKtNLtsVt
T1383-p	KVSAQLKtNLtsVtk
T1386-p	AQLKtNLtsVtkNRA
S1387-p	QLKtNLtsVtkNRAD
T1389-p	KtNLtsVtkNRADKN
K1390-u	tNLtsVtkNRADKNA
K1411-u	LFEPLVIkALKQYTT
S1607-p	KQQMHIDsHEALGVL
K1710-u	LGECSEGkQKSLPED
R1780-m2	RITAAATrLFTSDGC
S1784	AATrLFTSDGCEGSF
S1790	TSDGCEGSFYTLESL
Y1792	DGCEGSFYTLESLNA
T1793	GCEGSFYTLESLNAR
T1836-p	WWAEVQQtPKRHsLs
S1841-p	QQtPKRHsLsCTKSL
S1843-p	tPKRHsLsCTKSLNP
N1849	LsCTKSLNPQKsGEE
S1853-p	KSLNPQKsGEEEDSG
L2053	VQDSLSPLPPVTSHP
S2212	AQYLVVLSKVPAHLH
R2316	ESRSHTPRAVRKEEV
S2359	ALGHKRNSTLPSFLT
K2394	RVPPLVWKLGWSPKP
S2628-p	SDVPAPTsPPVsPVN
S2632-p	APTsPPVsPVNSRKH
S2741	KTVAEPVSRLLESTL
S2865-p	GLERLLLsEQLSRLD
S2869	LLLsEQLSRLDtEsL
T2873-p	EQLSRLDtEsLVKLS
S2875-p	LSRLDtEsLVKLSVD
T2922-p	ASDPSPAtPDSESVI
S2925	PSPAtPDSESVIVAM
S2927	PAtPDSESVIVAMER

	rat
-	gap
-	gap
-	gap
-	gap
K2	______MKAFESLKS
S6	__MKAFESLKSFQQQ
K8	MKAFESLKSFQQQQQ
S9	KAFESLKSFQQQQQQ
K67	KKELSATKKDRVNHC
S85	CENIVAQSLRNSPEF
K146	ELYKEIKKNGAPRSL
K204	TLAAAVPKIMASFGN
T235	NLKSSSPTVRRTAAG
S246	TAAGSAVSICQHSRR
K313	GSFGVTRKEMEVSPS
A381	LTLVREEAGGRGRsG
G385	REEAGGRGRsGsIVE
S387-p	EAGGRGRsGsIVELL
S389-p	GGRGRsGsIVELLAG
S399	ELLAGGGSSCsPVLS
S400	LLAGGGSSCsPVLSR
S402-p	AGGGSSCsPVLSRKQ
S406	SSCsPVLSRKQKGKV
K412	LSRKQKGKVLLGEEE
K412	LSRKQKGKVLLGEEE
T457	ASSSGVSTPGSVGHD
S505	EDILSHSSSQFSAVP
S611	MGHSRQPSDSSVDKF
S614	SRQPSDSSVDKFVSK
G628	KDEVAEAGDPESKPC
A767	DWLGTIRALTGNTFS
K784	DCIPLLQKTLKDESS
T901	VRHVAATTLTRLVPK
K912	LVPKLFYKCDQGQAD
S1026	GVPPLSASDESRKSC
S1029	PLSASDESRKSCTVG
S1075	LAASAPKSLRSSWAS
S1082	SLRSSWASEEEGSSA
T1091	EEGSSAATRQEEIWP
S1148	PSLTNPPSLsPIRRK
S1150-p	LTNPPSLsPIRRKGK
S1166	KEPGEQTSTPMsPKK
S1170-p	EQTSTPMsPKKGGEA
S1181	GGEASTASRQSDTSG
T1186	TASRQSDTSGPVTAS
S1200	SKSSSLGSFYHLPSY
R1209	YHLPSYLRLHDVLKA
K1233	DLQNSTEKFGGFLRS
T1293	LLKTLFGTNLASQFD
K1308	GLSSNPSKSQCRAQR
K1373	QKVSAQLKTNLTSVT
T1374	KVSAQLKTNLTSVTK
T1377	AQLKTNLTSVTKNRA
S1378	QLKTNLTSVTKNRAD
T1380	KTNLTSVTKNRADKN
K1381	TNLTSVTKNRADKNA
K1402	LFEPLVIKALKQYTT
S1598	KQQMHIDSHEALGVL
K1701	LGERSRGKQVKNLPE
R1772	RITAAATRLFTSDGC
S1776	AATRLFTSDGCEGSF
S1782	TSDGCEGSFYTLDSL
Y1784	DGCEGSFYTLDSLNA
T1785	GCEGSFYTLDSLNAR
T1828	WWAEVQQTPKRHSLS
S1833	QQTPKRHSLSCTKSL
S1835	TPKRHSLSCTKSLNP
N1841	LSCTKSLNPQISAEE
S1845	KSLNPQISAEEDSGS
L2044	VQDSLSPLPPVTSHP
S2203	AQYLVVLSKVPAPLH
R2307	ESRSHTPRAVRKEEV
S2350	ALGHKRNSTLPSFLT
K2385	RVPPLVWKLGWSPKP
S2619	ADAPAPTSPPVSPVN
S2623	APTSPPVSPVNSRKH
S2732	KTVAEPVSRLLESTL
S2856	GLERLLLSEQLSRLD
S2860	LLLSEQLSRLDTESL
T2864	EQLSRLDTESLVKLS
S2866	LSRLDTESLVKLSVD
T2913	ASDPSPATPDSESVI
S2916	PSPATPDSESVIVAM
S2918	PATPDSESVIVAMER

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