Tchem HTT Huntingtin

Protein Summary

Description

May play a role in microtubule-mediated transport or vesicle function. Huntingtin is a disease gene linked to 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. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. 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 forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]

Uniprot Accession IDs

• P42858
• Q9UQB7

Gene Name

• HTT

Ensembl ID

• ENST00000355072
• ENSP00000347184
• ENSG00000197386

Symbol

• HD
• IT15
• HD
• IT15
• LOMARS

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	1
hub protein	0.99
interacting protein	0.96
disease perturbation	0.95
biological term	0.92

Protein Classes

DTO Classes

Huntingtin-interacting Protein M / Huntingtin-interacting Protein 1-related Protein / Huntingtin-interacting Protein 1 / Huntingtin-associated Protein 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 3592.67   (req: < 5)

Gene RIFs: 568   (req: <= 3)

Antibodies: 738   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 3592.67   (req: >= 5)

Gene RIFs: 568   (req: > 3)

Antibodies: 738   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 26

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 8

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0