产品说明
一般描述
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)
免疫原
HAP1 (AAI56729.1, 1 a.a. ~ 671 a.a) full-length human protein.
Sequence
MRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGSQFLSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNSDAPWTRFVFQGPFGSRATGRGTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYLLEELLPPVWESVTYGMVLQRERDLNTAARIGQSLVKQNSVLMEENSKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLISQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFSEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMYGAETEKLQKQLASEKEIQMQLQEESVWVGSQLQDLREKYMDCGGMLIEMQEEVKTLRQQPPVSTGSATHYPYSVPLETLPGFQETLAEELRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIMRGEDFTPAEEFVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELDEATRMNVVTSALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSSCR
生化/生理作用
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.
外形
Solution in phosphate buffered saline, pH 7.4
基本信息
| NACRES | NA.41 |
产品性质
| 生物来源 | rabbit |
| 质量水平 | 100 |
| 偶联物 | unconjugated |
| 抗体形式 | purified immunoglobulin |
| antibody product type | primary antibodies |
| 克隆 | polyclonal |
| 形式 | buffered aqueous solution |
| 分子量 | antigen 73.81 kDa |
| species reactivity | human |
| technique(s) | western blot: 1 μg/mL |
| NCBI登记号 | BC156728.1 |
| UniProt登记号 | P54257 |
| 运输 | dry ice |
| 储存温度 | −20℃ |
| Gene Information | human ... HAP1(9001) |
安全信息
| 储存分类代码 | 12 - Non Combustible Liquids |
| WGK | WGK 3 |
| 闪点(F) | Not applicable |
| 闪点(C) | Not applicable |
