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Description for Protein HTT

huntingtin
70 total interacting proteins; 28 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/1)
(membrane: 1; phosphoproteome: 1; undefined: 1)
Summary:
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 in the number of trinucleotide repeats 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] (PubMed Links)
Domains and Motifs:
  • HEAT: HEAT repeat
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04533
    KEGG - Pathway(s):
    hsa05016
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    HTT; IT15; Huntington`s disease protein; HD protein
    Approved Symbol:
    HTT
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 26
    Human (de-) phosphorylation sites: 26; Platelet phosphorylation sites: 2
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Huntington disease(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00883 Entrez Gene ID: 3064 OMIM ID: 613004 Swissprot Accession: P42858;