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。
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 |
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