Biochem/physiol Actions
ELP3 (elongator complex protein 3) is a catalytic subunit of the histone acetyltransferase elongator complex. It enhances histone H3 acetylation, thereby regulating gene regulation in neurons. Dysregulation of ELP3 activity causes neuronal disorders, such as familial dysautonomia and amyotrophic lateral sclerosis. It might be a potential acetyltransferase for glucose-6-phosphate dehydrogenase. The ELP3 gene promoter is hypermethylated in invasive ductal breast carcinoma, causing transcriptional inactivation of the gene.
General description
ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM
Immunogen
ELP3 (NP_060561.3, 1 a.a. ~ 547 a.a) full-length human protein.SequenceMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQVELVRRDYVANGGWETFLSYEDPDQDILIGLLRLRKCSEETFRFELGGGVSIVRELHVYGSVVPVSSRDPTKFQHQGFGMLLMEEAERIAREEHGSGKIAVISGVGTRNYYRKIGYRLQGPYMVKMLK
Physical form
Solution in phosphate buffered saline, pH 7.4
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