ADAM10(A Disintegrin And Metalloproteinase 10)是一种属于ADAM家族的跨膜蛋白,该家族以其兼具去整合素和金属蛋白酶活性的特点而闻名。ADAM家族成员通常参与细胞表面蛋白的水解加工、细胞黏附和信号传导等过程。ADAM10作为该家族的重要成员,主要通过其金属蛋白酶结构域切割多种跨膜蛋白的胞外段,从而调控多种生理和病理过程。ADAM10的主要底物包括Notch受体、淀粉样前体蛋白(APP)、E-钙黏蛋白(E-cadherin)和多种细胞因子前体等。通过切割Notch,ADAM10参与Notch信号通路的激活,这对胚胎发育、细胞分化和组织稳态至关重要。在APP的加工中,ADAM10通过促进非淀粉样生成途径减少β-淀粉样蛋白(Aβ)的产生,从而可能降低阿尔茨海默病的风险。此外,ADAM10还通过切割E-钙黏蛋白影响上皮-间质转化(EMT),进而参与癌症的转移过程。ADAM10的突变可能导致其酶活性丧失或异常,从而影响其底物的正常加工。例如,ADAM10功能丧失性突变与某些遗传性疾病(如皮肤脆性增加)相关,而其过度激活可能与癌症进展和神经退行性疾病有关。ADAM10的表达水平变化对机体有显著影响:过表达可能增强Notch信号通路,促进肿瘤发生和转移,同时可能减少Aβ生成;而表达降低可能导致发育缺陷、免疫功能异常和神经退行性病变。ADAM10的表达受多种因素调控,包括转录因子、microRNA和翻译后修饰等。该基因在多种癌症(如乳腺癌、结肠癌)和神经系统疾病(如阿尔茨海默病)中表达异常,使其成为潜在的治疗靶点。ADAM家族成员共享相似的结构,包括前导肽、金属蛋白酶、去整合素、半胱氨酸富集、表皮生长因子样和跨膜结构域等,但各成员在底物特异性和功能上存在差异。ADAM10因其广泛的底物和重要的生物学功能,成为ADAM家族中最受关注的成员之一。
Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. [provided by RefSeq, Jul 2008]
的ADAM家族的成员是细胞表面蛋白具有独特的结构具有两个潜在粘附和蛋白酶结构域。该基因编码和ADAM家族成员的切割许多蛋白质??,包括TNF-α和E-cadherin。 [由RefSeq的,2008年7月提供]
ADAM10基因(以及对应的蛋白质)的细胞分布位置:
ADAM10基因的本体(GO)信息:
名称 |
---|
5010 Alzheimer's disease [PATH:hsa05010] |
5120 Epithelial cell signaling in Helicobacter pylori infection [PATH:hsa05120] |
名称 |
---|
Activated NOTCH1 Transmits Signal to the Nucleus |
Axon guidance |
Collagen degradation |
Constitutive Signaling by NOTCH1 HD Domain Mutants |
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants |
Constitutive Signaling by NOTCH1 PEST Domain Mutants |
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant |
Degradation of the extracellular matrix |
Developmental Biology |
Disease |
Diseases of signal transduction |
EPH-ephrin mediated repulsion of cells |
EPH-Ephrin signaling |
Extracellular matrix organization |
NOTCH2 Activation and Transmission of Signal to the Nucleus |
Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor |
Signal Transduction |
Signaling by EGFR |
Signaling by NOTCH |
Signaling by NOTCH1 |
Signaling by NOTCH1 HD Domain Mutants in Cancer |
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer |
Signaling by NOTCH1 in Cancer |
Signaling by NOTCH1 PEST Domain Mutants in Cancer |
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant |
Signaling by NOTCH2 |
Signaling by NOTCH3 |
Signaling by NOTCH4 |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Reticulate acropigmentation of Kitamura | 0.360271442 | 1 | 5 | BeFree_CLINVAR_ORPHANET_UNIPROT |
ALZHEIMER DISEASE 18 | 0.24 | 1 | 1 | CLINVAR_UNIPROT |
IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
Status Epilepticus | 0.08 | 1 | 0 | RGD |
Aortic Aneurysm, Thoracic | 0.08 | 1 | 0 | RGD |
Alzheimer's Disease | 0.008163119 | 12 | 2 | BeFree_LHGDN |
Neoplasm Metastasis | 0.006524536 | 14 | 0 | BeFree_LHGDN |
Squamous cell carcinoma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Atrial Fibrillation | 0.00272435 | 1 | 0 | LHGDN |
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