ANTI-HAP1

Not available outside of the UK & Ireland.

Biochem/physiol Actions

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.

General description

Huntington′s disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. (provided by RefSeq)

Immunogen

HAP1 (AAI56729.1, 1 a.a. ~ 671 a.a) full-length human protein.SequenceMRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGSQFLSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNSDAPWTRFVFQGPFGSRATGRGTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYLLEELLPPVWESVTYGMVLQRERDLNTAARIGQSLVKQNSVLMEENSKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLISQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFSEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMYGAETEKLQKQLASEKEIQMQLQEESVWVGSQLQDLREKYMDCGGMLIEMQEEVKTLRQQPPVSTGSATHYPYSVPLETLPGFQETLAEELRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIMRGEDFTPAEEFVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELDEATRMNVVTSALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSSCR

Physical form

Solution in phosphate buffered saline, pH 7.4