ITGB1(整合素β1)是整合素家族的重要成员,编码整合素β1亚基,与多种α亚基结合形成异源二聚体,构成细胞表面受体。整合素家族是一类跨膜糖蛋白,介导细胞与细胞外基质(ECM)及细胞间的黏附,参与细胞迁移、增殖、分化及信号转导等过程。ITGB1广泛表达于多种组织,通过与纤连蛋白、层粘连蛋白等ECM成分结合,调控细胞行为。其功能依赖于胞内段与细胞骨架蛋白(如踝蛋白、黏着斑激酶)的相互作用,激活下游信号通路(如FAK、MAPK)。ITGB1突变可导致多种疾病,如先天性肌营养不良(由于与层粘连蛋白结合异常)、癌症(促进转移)和炎症性疾病(影响白细胞迁移)。过表达ITGB1常与肿瘤侵袭性增强相关,通过增强ECM降解和上皮-间质转化(EMT)促进转移;而敲低表达则导致胚胎致死(小鼠模型)或组织发育缺陷,如皮肤脆性增加。在免疫系统中,ITGB1表达异常可能影响T细胞活化。该基因属于整合素β亚家族,成员均含保守的胞外域(含金属离子依赖的黏附位点)和较短的胞内尾,但配体结合特异性由α亚基决定。针对ITGB1的治疗策略(如抗体或小分子抑制剂)正在癌症和纤维化疾病中探索。
Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
整合素是由α和β亚基的异源二聚体蛋白。至少18α和8个β亚单位在哺乳动物中所述。整联蛋白家族成员参与细胞粘附和识别中的各种过程,包括胚胎发生,止血,组织修复,免疫应答和肿瘤细胞的转移性扩散膜受体。该基因编码一个β亚基。多重选择性剪接的转录变体,其编码不同的蛋白亚型也发现了这种基因。 [由RefSeq的,2008年7月提供]
ITGB1基因(以及对应的蛋白质)的细胞分布位置:
ITGB1基因的本体(GO)信息:
名称 |
---|
4015 Rap1 signaling pathway [PATH:hsa04015] |
4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
4512 ECM-receptor interaction [PATH:hsa04512] |
4514 Cell adhesion molecules (CAMs) [PATH:hsa04514] |
4145 Phagosome [PATH:hsa04145] |
4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
4510 Focal adhesion [PATH:hsa04510] |
4611 Platelet activation [PATH:hsa04611] |
4670 Leukocyte transendothelial migration [PATH:hsa04670] |
4360 Axon guidance [PATH:hsa04360] |
5200 Pathways in cancer [PATH:hsa05200] |
5205 Proteoglycans in cancer [PATH:hsa05205] |
5222 Small cell lung cancer [PATH:hsa05222] |
5410 Hypertrophic cardiomyopathy (HCM) [PATH:hsa05410] |
5412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) [PATH:hsa05412] |
5414 Dilated cardiomyopathy (DCM) [PATH:hsa05414] |
5130 Pathogenic Escherichia coli infection [PATH:hsa05130] |
5131 Shigellosis [PATH:hsa05131] |
5133 Pertussis [PATH:hsa05133] |
5100 Bacterial invasion of epithelial cells [PATH:hsa05100] |
5145 Toxoplasmosis [PATH:hsa05145] |
5140 Leishmaniasis [PATH:hsa05140] |
名称 |
---|
Adaptive Immune System |
Axon guidance |
Basigin interactions |
Cell junction organization |
Cell surface interactions at the vascular wall |
Cell-Cell communication |
Cell-extracellular matrix interactions |
CHL1 interactions |
Developmental Biology |
ECM proteoglycans |
Elastic fibre formation |
Extracellular matrix organization |
Fibronectin matrix formation |
Hemostasis |
Immune System |
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
Integrin cell surface interactions |
L1CAM interactions |
Laminin interactions |
Localization of the PINCH-ILK-PARVIN complex to focal adhesions |
Molecules associated with elastic fibres |
Non-integrin membrane-ECM interactions |
Other semaphorin interactions |
Platelet Adhesion to exposed collagen |
RHO GTPase Effectors |
RHO GTPases Activate Formins |
Semaphorin interactions |
Signal Transduction |
Signal transduction by L1 |
Signaling by Rho GTPases |
Syndecan interactions |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Neoplasm Metastasis | 0.131158911 | 15 | 0 | BeFree_CTD_human_LHGDN |
Squamous cell carcinoma | 0.126263026 | 6 | 0 | BeFree_CTD_human_LHGDN |
Cardiomyopathies | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
Non-Small Cell Lung Carcinoma | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Neoplasm Invasiveness | 0.12 | 1 | 0 | CTD_human |
Gliosis | 0.12 | 1 | 0 | CTD_human |
Endometriosis | 0.12 | 1 | 0 | CTD_human |
Calcinosis | 0.12 | 1 | 0 | CTD_human |
Cardiomyopathy, Dilated | 0.12 | 1 | 0 | CTD_human |
Heart failure | 0.12 | 1 | 0 | CTD_human |
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