SB0051 : Huntingtin
[ CaMP Format ]
* Basic Information
| Organism | Homo sapiens (human) |
| Protein Names | huntingtin [Homo sapiens]; huntingtin; huntington disease protein; Huntingtin; Huntington disease protein; HD protein |
| Gene Names | HTT; HD, IT15; HD; IT15; huntingtin |
| Gene Locus | 4p16.3; chromosome 4 |
| GO Function | Not available |
* 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).
* 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 name | begin | end | score | e-value |
|---|---|---|---|---|
| Vacuolar 14 Fab1-binding region 1. | 123 | 169 | 21.0 | 0.0 |
| HEAT-like repeat 1. | 249 | 274 | 25.0 | 0.0 |
| HEAT-like repeat 2. | 372 | 400 | 23.0 | 0.0 |
| --- cleavage 536 --- | ||||
| HEAT-like repeat 3. | 762 | 776 | 40.0 | 0.0 |
| HEAT-like repeat 4. | 808 | 833 | 28.0 | 0.1 |
| HEAT-like repeat 5. | 917 | 935 | 36.0 | 0.0 |
| Vacuolar 14 Fab1-binding region 2. | 1442 | 1471 | 13.0 | 0.1 |
| Huntingtin protein region 1. | 1515 | 1555 | 1.0 | 0.2 |
| Armadillo/beta-catenin-like repeat 1. | 1672 | 1690 | 7.0 | 0.0 |
| HEAT repeat 1. | 3030 | 3046 | 12.0 | 0.0 |
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)
[Site 1] DEEDILSHSS536-SQVSAVPSDP
Ser536 
Ser
 |
|||||||||
| P10 | P9 | P8 | P7 | P6 | P5 | P4 | P3 | P2 | P1 |
|---|---|---|---|---|---|---|---|---|---|
| Asp527 | Glu528 | Glu529 | Asp530 | Ile531 | Leu532 | Ser533 | His534 | Ser535 | Ser536 |
 |
|||||||||
| P1' | P2' | P3' | P4' | P5' | P6' | P7' | P8' | P9' | P10' |
| Ser537 | Gln538 | Val539 | Ser540 | Ala541 | Val542 | Pro543 | Ser544 | Asp545 | Pro546 |
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: