EIAab
首页  >  重组蛋白  >  Human HAP1 Recombinant Protein
HAP1 (基因名), Huntingtin-associated protein 1 (蛋白名), hap1_human.
产品名称:

Human HAP1/ Huntingtin-associated protein 1 Recombinant Protein
Huntingtin-associated蛋白1

货号:

R13653h

商标:
EIAab®
监管等级:
别名:

Neuroan 1, HAP-1, HAP2, HLP1

序列号:
P54257
来源:
E.coli
种属:
Human
标签:
His
序列:
511-671aa
预估分子量:
17.71 kDa (monomer)
纯度:
Greater than 90% by SDS-PAGE
浓度:
Reconstitution Dependent
形态:
Liquid
内毒素水平:
Please contact protein@eiaab.com The technician for more information.
应用:
存储缓冲液:
50mM NaH2PO4, 500mM NaCl Buffer with 500mM Imidazole, 10%glycerol(PH8.0)
存储:
Store at -20°C. (Avoid repeated freezing and thawing.)
研究领域:
-
Human HAP1 Protein
规格 & 价格: cart
×
Human HAP1 Protein
邮箱 *
消息 *
Please 登录.
产品说明书
说明书: 下载说明书
MSDS: MSDS
在线询价


R&D 技术数据
Human HAP1 Protein
Recombinant human HAP1 protein was determined by 12% SDS-PAGE stained with Coomassie Blue under reducing conditions.
基因位点
Cytogenetic band: 17q21.2 by HGNC 17q21.2 by Entrez Gene 17q21.2 by Ensembl
HAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
基因位点
通用注释


亚单元:
Self-associates. Interacts with HTT/huntingtin; enhanced by an expanded polyglutamine repeat within HTT. Interacts with DCTN1; decreased in presence of HTT with expanded polyglutamine repeat. Interacts with KLC2. Interacts with ITPR1 and APP. Interacts with AR; decreased by an expanded polyglutamine repeat within AR. Interacts with YWHAZ. Interacts with BDNF and SORT1; probably forming a complex involved in proBDNF trafficking, degradation and processing. Interacts with TBP, AHI1, HGS and KALRN. Interacts with KIF5A, KIF5B, KIF5C and GABRB3; indicative for an HAP1:KIF5 complex transporting a GABA(A) receptor as cargo. Interacts with ATXN3; in STBs with ATXN3 poly-Gln region with 27 repeats (normal population) and 79 repeats (spinocerebellar ataxia 3 (SCA3) patients) associating in the same strength. Interacts with NTRK2; HAP1 stabilizes association of NTRK2 with SORT1 preventing NTRK2 degradation. Interacts with CCDC113.


功能:
Originally identified as neuronal protein that specifically associates with HTT/huntingtin and the binding is enhanced by an expanded polyglutamine repeat within HTT possibly affecting HAP1 interaction properties. Both HTT and HAP1 are involved in intracellular trafficking and HAP1 is proposed to link HTT to motor proteins and/or transport cargos. Seems to play a role in vesicular transport within neurons and axons such as from early endosomes to late endocytic compartments and to promote neurite outgrowth. The vesicular transport function via association with microtubule-dependent transporters can be attenuated by association with mutant HTT. Involved in the axonal transport of BDNF and its activity-dependent secretion; the function seems to involve HTT, DCTN1 and a complex with SORT1. Involved in APP trafficking and seems to faciltate APP anterograde transport and membrane insertion thereby possibly reducing processing into amyloid beta. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptors to synapses; the function is dependent on kinesin motor protein KIF5 and is disrupted by HTT with expanded polyglutamine repeat. Involved in regulation of autophagosome motility by promoting efficient retrograde axonal transport. Seems to be involved in regulation of membrane receptor recycling and degradation, and respective signal transduction, including GABA(A) receptors, tyrosine kinase receptors, EGFR, IP3 receptor and androgen receptor. Among others suggested to be involved in control of feeding behavior (involving hypothalamic GABA(A) receptors), cerebellar and brainstem development (involving AHI1 and NTRK1/TrkA), postnatal neurogenesis (involving hypothalamic NTRK2/TrkB), and ITPR1/InsP3R1-mediated Ca(2+) release (involving HTT and possibly the effect of mutant HTT). Via association with DCTN1/dynactin p150-glued and HTT/huntingtin involved in cytoplasmic retention of REST in neurons. May be involved in ciliogenesis. Involved in regulation of exocytosis. Seems to be involved in formation of cytoplasmic inclusion bodies (STBs). In case of anomalous expression of TBP, can sequester a subset of TBP into STBs; sequestration is enhanced by an expanded polyglutamine repeat within TBP. HAP1-containing STBs have been proposed to play a protective role against neurodegeneration in Huntigton disease (HD) and spinocerebellar ataxia 17 (SCA17).


亚细胞位置:
Cytoplasm Cell projection Axon Cytoplasm Cytoskeleton Lysosome Endoplasmic reticulum Cytoplasmic vesicle Secretory vesicle Synaptic vesicle Mitochondrion Nucleus Cytoplasmic vesicle Autophagosome Localizes to large nonmembrane-bound cytoplasmic bodies found in various types of neurons, called stigmoid bodies (STBs). Localization to neuronal processes and neurite tips is decreased by YWHAZ. In the nucleus localizes to nuclear rods (By similarity).


该产品尚未在任何出版物中被引用。

[1].
"Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease."

[2].
"A human HAP1 homologue. Cloning, expression, and interaction with huntingtin."

[3].
"A huntingtin-associated protein enriched in brain with implications for pathology."

[4].
"Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism."

[5].
"The cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): comparison with huntingtin in rat and human."

[6].
"Proteomic analysis of mammalian sperm cells identifies new components of the centrosome."

[7].
"The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions."

[8].
"Huntingtin associated protein 1 regulates trafficking of the amyloid precursor protein and modulates amyloid beta levels in neurons."

[9].
"Interaction of ataxin-3 with huntingtin-associated protein 1 through Josephin domain."

[10].
"Huntingtin-associated protein-1 interacts with pro-brain-derived neurotrophic factor and mediates its transport and release."
关闭
Sample Data
关闭
Sample Data
关闭
Sample Data
用户中心 close
购物车 close
我的收藏 close
我的足迹 close
清除
产品对比 close
用户中心
购物车
我的收藏
我的足迹
产品对比
回到顶部
通知
new 咨询
规格 数量 单价 (¥) 小计 1 (¥)
小计 2:
triangle
规格 数量 单价 (¥)
你想做我们的代理并得到更低的折扣吗?
请联系我们:
电话:027-59234612(+86)
传真:027-59234610(+86)
邮箱:sales@eiaab.com