The gene HAP1 (huntingtin-associated protein 1) encodes a nuclear enzyme that is mainly expressed in neurons. It is the human homolog of exonuclease III protein from E. coli. The gene is mapped to human chromosome 17q21.2-q21.3.
Htt-associated protein-1 (HAP1) is present abundantly in the brain. It exists in two isoforms and is located on the human chromosome at 17q21.2.
Anti-HAP1 specifically recognizes human and rat HAP1.
synthetic peptide corresponding to an internal sequence of human HAP1, conjugated to KLH. Whole antiserum is purified using protein A immobilized on agarose to provide the IgG fraction of antiserum.
Anti-HAP1 antibody produced in rabbit may be used in immunoblotting and immunofluorescence.
The gene HAP1 (huntingtin-associated protein 1) is a bifunctional enzyme that functions as a DNA repair enzyme as well as in redox activation of transcription factors. It binds to the Huntington′s disease (HD) protein huntingtin in a polyglutamine length-dependent manner. It associates with huntingtin via the cytoskeletal proteins dynactin and pericentriolar autoantigen protein 1 forming coiled-coils. It plays a role in vesicle trafficking by facilitating interactions among cytoskeletal, vesicular and motor proteins. It is an apurinic/apyrimidinic (AP) site-specific DNA repair endonuclease that removes the AP sites produced naturally or by cytotoxic drugs and radiation. It also has RNAse H activity and controls the redox state of certain proto-oncogene products, such as the transcription factor c-Jun. The HAP1 protein is a candidate for pathology associated with HD.
Htt-associated protein-1 (HAP1) binds to the Htt protein due to PolyQ expansion. It plays a role in intracellular trafficking in neurons. HAP1 also functions as an adaptor protein linking vesicles with intracellular transporters. It interacts with dynactin p150Glued and kinesin light chain (KLC). HAP1 takes part in endosomal trafficking and stabilization of internalized epidermal growth factor receptor (EGFR) and γ-aminobutyric acid A receptor (GABAAR). Modulation of HAP1 trafficking is crucial for the stability of tropomyosin-related kinase A (TrkA) and neurite outgrowth. HAP1 is also involved in the interaction with pro-brain-derived neurotrophic factor (pro-BDNF) and mediates its transport and release. HAP-1 is associated with pathogenesis of Huntington′s disease.
Solution in 0.01 M phosphate buffered saline, pH 7.4, containing 15 mM sodium azide.
Storage and Stability
For continuous use, store at 2-8 °C for up to one month. For extended storage, freeze in working aliquots. Repeated freezing and thawing, or storage in “frost-free” freezers,is not recommended. If slight turbidity occurs upon prolonged storage, clarify the solution by centrifugation before use. Working dilutions should be discarded if not used within 12 hours.
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