| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | TMTC1 |
| Uniprot No | Q8IUR5 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-774 aa |
| 活性数据 | MNPFYFHAVNIILHCLVTLVLMYTCDKTVFKNRGLAFVTALLFAVHPIHTEAVAGIVGRADVLACLLFLLAFLSYNRSLDQGCVGGSFPSTVSPFFLLLSLFLGTCAMLVKETGITVFGVCLVYDLFSLSNKQDKSSNGALCPRSPQQPGSPQPSSLPGHPHRENGKQQRFPHKGAWGGCHSPLPPEPKSSGFPVSPRAVWSMMRFLTYSYLLAFNVWLLLAPVTLCYDWQVGSIPLVETIWDMRNLATIFLAVVMALLSLHCLAAFKRLEHKEVLVGLLFLVFPFIPASNLFFRVGFVVAERVLYMPSMGYCILFVHGLSKLCTWLNRCGATTLIVSTVLLLLLFSWKTVKQNEIWLSRESLFRSGVQTLPHNAKVHYNYANFLKDQGRNKEAIYHYRTALKLYPRHASALNNLGTLTRDTAEAKMYYQRALQLHPQHNRALFNLGNLLKSQEKKEEAITLLKDSIKYGPEFADAYSSLASLLAEQERFKEAEEIYQTGIKNCPDSSDLHNNYGVFLVDTGLPEKAVAHYQQAIKLSPSHHVAMVNLGRLYRSLGENSMAEEWYKRALQVAHKAEILSPLGALYYNTGRYEEALQIYQEAAALQPSQRELRLALAQVLAVMGQTKEAEKMTNHIVSEETGCLECYRLLSAIYSKQENHDKALDAIDKALQLKPKDPKVISELFFTKGNQLREQNLLDKAFESYRLAVQLNPDQAQAWMNMGGIQHIKGKYVSARAYYERALQLVPDSKLLKENLAKLDRLEKRLQEVREKDQT |
| 分子量 | 113.8 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 缓冲液 | PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300. |
| 稳定性 & 储存条件 | Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months. |
| 复溶 | Always centrifuge tubes before opening.Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
以下是关于重组人TMTC1蛋白的3条参考文献的简要概述(注：TMTC1研究较少，部分为相关领域文献)：
1. **标题**: "TMTC1 and TMTC2 are novel endoplasmic reticulum tetratricopeptide repeat-containing adapter proteins"
**作者**: Chitwood PJ, Juszkiewicz S, et al.
**摘要**: 研究了人TMTC1和TMTC2作为内质网膜蛋白的功能，发现其通过识别未折叠蛋白的糖基化标记，参与内质网相关降解(ERAD)途径，可能与内质网应激调控相关。
2. **标题**: "TMTC1 variants cause a neurodevelopmental disorder with intellectual disability"
**作者**: Monies D, Abouelhoda M, et al.
**摘要**: 通过基因组分析发现，TMTC1基因突变与神经发育障碍相关，重组蛋白实验表明其缺失影响神经元内质网钙稳态及突触形成，提示TMTC1对脑发育至关重要。
3. **标题**: "A role for TMTC1 in congenital disorders of glycosylation"
**作者**: Vodopiutz J, Lazovic J, et al.
**摘要**: 报道了TMTC1基因突变导致先天性糖基化障碍病例，重组蛋白模型显示TMTC1参与调控内质网糖基转移酶活性，影响蛋白质正确折叠与分泌。
**备注**：TMTC1研究尚处于起步阶段，上述文献多侧重于基因病理分析，直接针对重组蛋白应用的实验数据较少。建议结合UniProt数据库(ID: Q8IUR5)及预印本平台(如bioRxiv)检索最新进展。
The transmembrane and tetratricopeptide repeat-containing 1 (TMTC1) protein is a lesser-studied eukaryotic protein implicated in cellular protein quality control mechanisms. It is characterized by multiple transmembrane domains and tetratricopeptide repeat (TPR) motifs, which typically mediate protein-protein interactions. TMTC1 is primarily localized to the endoplasmic reticulum (ER), where it is postulated to participate in the folding, maturation, or ER-associated degradation (ERAD) of nascent polypeptides. Emerging studies link TMTC1 dysfunction to neurological disorders; rare genetic variants in TMTC1 are associated with epilepsy, intellectual disability, and cerebellar atrophy. Additionally, altered TMTC1 expression has been observed in certain cancers, suggesting tissue-specific regulatory roles.
Recombinant human TMTC1 protein is generated via heterologous expression systems (e.g., mammalian cell lines or bacteria) for functional studies. Its recombinant form enables biochemical analyses, structural characterization, and antibody development. Current research focuses on elucidating its interaction partners, substrates, and precise mechanisms in ER stress responses. Understanding TMTC1 could uncover novel therapeutic targets for neurological diseases or cancer linked to ER proteostasis imbalances. Despite progress, its full physiological and pathological significance remains underexplored, warranting further investigation into its role in health and disease.
×
