Related Experiment Video

Updated: Jan 26, 2026

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

3.0K

Huntingtin associated protein 1 and its functions

Linda Lin-yan Wu1, Xin-Fu Zhou

  • 1Department of Human Physiology, Flinders University, Adelaide, South Australia, Australia.

Cell Adhesion & Migration
|March 6, 2009
PubMed

Insights

Huntington disease (HD) involves huntingtin protein (Htt) expansion. Huntingtin associated protein 1 (HAP1), enriched in neurons, may play a key role in HD pathogenesis via intracellular trafficking.

Area of Science:

  • Neuroscience
  • Molecular Biology
  • Genetics

Background:

  • Huntington disease (HD) is a neurodegenerative disorder caused by polyglutamine expansion in the huntingtin protein (Htt).
  • Intracellular trafficking and vesicular transport are implicated in HD pathogenesis.
  • Huntingtin associated protein 1 (HAP1) is a key protein interacting with Htt.

Purpose of the Study:

  • To review the role of HAP1 in intracellular trafficking.
  • To explore HAP1's potential contribution to the selective neuropathology observed in HD.
  • To discuss the involvement of HAP1 and its binding proteins in HD pathogenesis.

Main Methods:

  • Literature review of existing studies on HAP1 and Huntington disease.
  • Analysis of Htt and HAP1 expression patterns.
  • Examination of HAP1's role in intracellular transport mechanisms.

Main Results:

  • Htt and HAP1 are involved in intracellular trafficking.
  • Polyglutamine expansion in Htt may disrupt vesicular transport.
  • HAP1 is specifically enriched in neurons, unlike the ubiquitous Htt.

Conclusions:

  • HAP1 dysfunction, due to its neuronal enrichment, could be central to HD's selective neuropathology.
  • Further understanding of HAP1 and its interactions is crucial for elucidating HD pathogenesis.
  • HAP1 represents a potential therapeutic target for Huntington disease.

More Related Videos

Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy11:22

Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy

Published on: June 27, 2018

8.5K
Fractionation for Resolution of Soluble and Insoluble Huntingtin Species07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

10.1K

Related Concept Videos

Structural Protein Function01:56

Structural Protein Function

Structural proteins are a category of proteins responsible for functions ranging from cell shape and movement to providing support to major structures such as bones, cartilage, hair, and muscles. This group includes proteins such as collagen, actin, myosin, and keratin.
Collagen, the most abundant protein in mammals, is found throughout the body. In connective tissue, such as skin, ligaments, and tendons, it provides tensile strength and elasticity.  In bones and teeth, it mineralizes to...
29.9K
Structural Protein Function01:56

Structural Protein Function

No description available
3.2K
Mechanical Protein Functions01:58

Mechanical Protein Functions

Proteins perform many mechanical functions in a cell. These proteins can be classified into two general categories- proteins that generate mechanical forces and proteins that are subjected to mechanical forces. Proteins providing mechanical support to the structure of the cell, such as keratin, are subjected to mechanical force, whereas proteins involved in cell movement and transport of molecules across cell membranes, such as an ion pump, are examples of generating mechanical force. 
5.5K
Mechanical Protein Function01:58

Mechanical Protein Function

No description available
2.5K
Functional Groups02:45

Functional Groups

Functional groups are a group of atoms with characteristic properties, which when linked to the carbon skeleton of a molecule, alter the properties of that molecule. For example, the presence of certain functional groups on a molecule will make them hydrophilic, whereas others will make them hydrophobic. These functional groups are an indispensable part of organic chemistry and important components of biological molecules, such as carbohydrates, proteins, lipids, and nucleic acids. Each...
88.0K
Protein-protein Interfaces02:04

Protein-protein Interfaces

Many proteins form complexes to carry out their functions, making protein-protein interactions (PPIs) essential for an organism's survival. Most PPIs are stabilized by numerous weak noncovalent chemical forces. The physical shape of the interfaces determines the way two proteins interact. Many globular proteins have closely-matching shapes on their surfaces, which form a large number of weak bonds. Additionally, many PPIs occur between two helices or between a surface cleft and a...
14.6K