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SB0051 : Huntingtin

[ CaMP Format ]

* Basic Information

OrganismHomo sapiens (human)
Protein Nameshuntingtin [Homo sapiens]; huntingtin; huntington disease protein; Huntingtin; Huntington disease protein; HD protein
Gene NamesHTT; HD, IT15; HD; IT15; huntingtin
Gene Locus4p16.3; chromosome 4
GO FunctionNot available
Entrez Protein Entrez Nucleotide Entrez Gene UniProt OMIM HGNC HPRD KEGG
NP_002102 NM_002111 3064 P42858 613004 HGNC:4851 N/A hsa:3064

* Information From OMIM

Description: The HTT gene encodes huntingtin, a ubiquitously expressed nuclear protein that binds to a number of transcription factors to regulate transcription. Abnormal expansion of a polyglutamine tract in the N terminus of huntingtin causes Huntington disease (OMIM:143100), a devastating autosomal dominant neurodegenerative disease characterized by motor, psychiatric, and cognitive dysfunction (summary by Futter et al., 2009).

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* Structure Information

1. Primary Information

Length: 3144 aa

Average Mass: 347.856 kDa

Monoisotopic Mass: 347.639 kDa

2. Domain Information

Annotated Domains: interpro / pfam / smart / prosite

Computationally Assigned Domains (Pfam+HMMER):

domain namebeginendscoree-value
Vacuolar 14 Fab1-binding region 1. 12316921.00.0
HEAT-like repeat 1. 24927425.00.0
HEAT-like repeat 2. 37240023.00.0
--- cleavage 536 ---
HEAT-like repeat 3. 76277640.00.0
HEAT-like repeat 4. 80883328.00.1
HEAT-like repeat 5. 91793536.00.0
Vacuolar 14 Fab1-binding region 2. 1442147113.00.1
Huntingtin protein region 1. 151515551.00.2
Armadillo/beta-catenin-like repeat 1. 167216907.00.0
HEAT repeat 1. 3030304612.00.0

3. Sequence Information

Fasta Sequence: SB0051.fasta

Amino Acid Sequence and Secondary Structures (PsiPred):

4. 3D Information

Known Structures in PDB: 2D3X (Model; -; A=199-325), 2LD0 (NMR; -; A=1-17), 2LD2 (NMR; -; A=1-17), 3IO4 (X-ray; 363 A; A/B/C=1-64), 3IO6 (X-ray; 370 A; A/B/C=1-64), 3IOR (X-ray; 360 A; A/B/C=1-64), 3IOT (X-ray; 350 A; A/B/C=1-64), 3IOU (X-ray; 370 A; A/B/C=1-64), 3IOV (X-ray; 370 A; A/B/C=1-64), 3IOW (X-ray; 350 A; A/B/C=1-64), 3LRH (X-ray; 260 A; B/D/F/H/J/L/N/P=5-18), 4FE8 (X-ray; 300 A; A/B/C=1-64), 4FEB (X-ray; 280 A; A/B/C=1-64), 4FEC (X-ray; 300 A; A/B/C=1-64), 4FED (X-ray; 281 A; A/B/C=1-64)

* Cleavage Information

1 [sites] cleaved by Calpain 2

Source Reference: [PubMed ID: 14981075] Gafni J, Hermel E, Young JE, Wellington CL, Hayden MR, Ellerby LM, Inhibition of calpain cleavage of huntingtin reduces toxicity: accumulation of calpain/caspase fragments in the nucleus. J Biol Chem. 2004 May 7;279(19):20211-20. Epub 2004 Feb 23.

Cleavage sites (±10aa)


Ser536 Ser

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'

Sequence conservation (by blast)

* References

[PubMed ID: 25092318] Kayatekin C, Matlack KE, Hesse WR, Guan Y, Chakrabortee S, Russ J, Wanker EE, Shah JV, Lindquist S, Prion-like proteins sequester and suppress the toxicity of huntingtin exon 1. Proc Natl Acad Sci U S A. 2014 Aug 19;111(33):12085-90. doi:

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