APC(Adenomatous Polyposis Coli)基因是一个重要的抑癌基因,主要参与调控Wnt信号通路,对细胞增殖、分化和迁移起关键作用。它编码的APC蛋白通过与β-catenin结合,促进其降解,从而抑制Wnt信号通路的过度激活,防止细胞异常增殖。APC蛋白还在细胞骨架调控、染色体稳定性和细胞极性维持中发挥作用。APC基因突变与家族性腺瘤性息肉病(FAP)密切相关,这是一种常染色体显性遗传病,患者肠道内会形成大量息肉,并显著增加结直肠癌风险。此外,APC突变也常见于散发性结直肠癌中。APC基因的失活突变会导致β-catenin积累,持续激活Wnt通路,促进肿瘤发生。APC属于一个保守的基因家族,其家族成员通常参与细胞骨架组织和信号转导。APC基因过表达可能干扰正常Wnt信号传导,影响胚胎发育和组织稳态;而表达降低则可能导致Wnt通路过度激活,促进肿瘤发生。APC还与微管结合蛋白相互作用,影响细胞分裂和迁移。除了癌症,APC突变还与其它疾病如髓母细胞瘤和甲状腺癌有关。该基因的多种剪切变体在不同组织中发挥特定功能,进一步增加了其功能的复杂性。
This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]
这个基因编码充当Wnt信号通路的拮抗剂肿瘤抑制蛋白。它也涉及其他过程,包括细胞迁移和粘附,转录激活,和细胞凋亡。缺陷这个基因导致家族性息肉病(FAP),一种常染色体显性恶性疾病前,通常发展为恶性肿瘤。疾病相关的突变趋向于指定的突变簇区域(MCR)的小区域被聚集并导致截短的蛋白质产物。 [由RefSeq的,2008年7月提供]
APC基因(以及对应的蛋白质)的细胞分布位置:
APC基因的本体(GO)信息:
| 名称 |
|---|
| 4310 Wnt signaling pathway [PATH:hsa04310] |
| 4390 Hippo signaling pathway [PATH:hsa04390] |
| 4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
| 4550 Signaling pathways regulating pluripotency of stem cells [PATH:hsa04550] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 5210 Colorectal cancer [PATH:hsa05210] |
| 5217 Basal cell carcinoma [PATH:hsa05217] |
| 5213 Endometrial cancer [PATH:hsa05213] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 名称 |
|---|
| AMER1 mutants destabilize the destruction complex |
| APC truncation mutants are not K63 polyubiquitinated |
| APC truncation mutants have impaired AXIN binding |
| Apoptosis |
| Apoptotic cleavage of cellular proteins |
| Apoptotic execution phase |
| AXIN missense mutants destabilize the destruction complex |
| AXIN mutants destabilize the destruction complex, activating WNT signaling |
| Beta-catenin phosphorylation cascade |
| deactivation of the beta-catenin transactivating complex |
| Degradation of beta-catenin by the destruction complex |
| disassembly of the destruction complex and recruitment of AXIN to the membrane |
| Disease |
| Diseases of signal transduction |
| misspliced GSK3beta mutants stabilize beta-catenin |
| phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex |
| Programmed Cell Death |
| S33 mutants of beta-catenin aren't phosphorylated |
| S37 mutants of beta-catenin aren't phosphorylated |
| S45 mutants of beta-catenin aren't phosphorylated |
| Signal Transduction |
| Signaling by Wnt |
| Signaling by WNT in cancer |
| T41 mutants of beta-catenin aren't phosphorylated |
| TCF dependent signaling in response to WNT |
| truncated APC mutants destabilize the destruction complex |
| truncations of AMER1 destabilize the destruction complex |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Adenomatous Polyposis Coli | 0.776808767 | 654 | 12 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
| Desmoid disease, hereditary | 0.361085767 | 4 | 0 | BeFree_CLINVAR_CTD_human_ORPHANET |
| Liver carcinoma | 0.328067311 | 21 | 1 | BeFree_CLINVAR_CTD_human_GAD_MGD |
| Gardner Syndrome | 0.244810009 | 9 | 10 | BeFree_CLINVAR_GAD_ORPHANET |
| Medulloblastoma | 0.24434307 | 18 | 0 | BeFree_CTD_human_UNIPROT |
| Stomach Neoplasms | 0.240814326 | 3 | 2 | BeFree_CLINVAR_CTD_human |
| Colorectal Neoplasms | 0.240791019 | 114 | 2 | BeFree_CTD_human_GAD_LHGDN |
| Colorectal Cancer | 0.24 | 321 | 5 | BeFree_GAD_MGD |
| Colonic Neoplasms | 0.231776019 | 46 | 1 | BeFree_CTD_human_GAD_LHGDN_RGD |
| Adenoma | 0.190731622 | 149 | 4 | BeFree_CTD_human_GAD_LHGDN |
山东省济南市章丘区文博路2号 齐鲁师范学院 genelibs生信实验室
山东省济南市高新区舜华路750号大学科技园北区F座4单元2楼
电话: 0531-88819269
E-mail: product@genelibs.com
关注微信订阅号,实时查看信息,关注医学生物学动态。