PCNA(增殖细胞核抗原)是一种在DNA复制和修复过程中起关键作用的蛋白质,属于滑动夹蛋白家族。它的主要功能是作为DNA聚合酶的辅助蛋白,通过与DNA聚合酶δ和ε结合形成复合物,显著提高DNA合成的持续性和准确性。PCNA在细胞周期的S期表达量最高,是细胞增殖的重要标志物。PCNA以三聚体形式环绕DNA,形成一个滑动夹结构,确保DNA聚合酶在复制过程中不会从模板上脱落。此外,PCNA还参与多种DNA修复途径,包括核苷酸切除修复、碱基切除修复和错配修复等。PCNA的突变通常会导致DNA复制和修复功能障碍,可能引发基因组不稳定,增加癌症风险。PCNA的过表达常见于多种肿瘤细胞中,与肿瘤的恶性程度和预后不良相关,因为它促进了肿瘤细胞的快速增殖。相反,PCNA表达降低会导致细胞增殖受阻,可能引起发育缺陷或加速衰老。PCNA属于PCNA基因家族,该家族成员在结构上具有保守的滑动夹结构域,能够与其他蛋白质相互作用,参与DNA代谢过程。PCNA还与多种蛋白质如p21、FEN1和MSH6等相互作用,调控细胞周期和DNA修复。PCNA的表达和活性受到多种因素的调控,包括转录水平、翻译后修饰和蛋白质降解等。PCNA在癌症、神经退行性疾病和衰老等疾病中具有重要作用,是潜在的诊断标志物和治疗靶点。
The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质在细胞核中被发现,为DNA聚合酶δ的辅助因子。所编码的蛋白质作为同三聚体,并有助于提高在DNA复制期间前导链合成的合成能力。响应于DNA损伤,这种蛋白是泛素化,并参与在RAD6依赖性DNA修复途径。已发现了该基因编码的蛋白质相同的两个转录变异体。这个基因的假基因已在4号染色体和X染色体上的说明。 [由RefSeq的,2008年7月提供]
PCNA基因(以及对应的蛋白质)的细胞分布位置:
PCNA基因的本体(GO)信息:
| 名称 |
|---|
| 3030 DNA replication [PATH:hsa03030] |
| 3410 Base excision repair [PATH:hsa03410] |
| 3420 Nucleotide excision repair [PATH:hsa03420] |
| 3430 Mismatch repair [PATH:hsa03430] |
| 4110 Cell cycle [PATH:hsa04110] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 5161 Hepatitis B [PATH:hsa05161] |
| 名称 |
|---|
| Base Excision Repair |
| Cell Cycle |
| Cell Cycle, Mitotic |
| Chromosome Maintenance |
| DNA Damage Bypass |
| DNA Repair |
| DNA Replication |
| DNA strand elongation |
| E2F mediated regulation of DNA replication |
| Extension of Telomeres |
| G0 and Early G1 |
| G1/S Transition |
| G1/S-Specific Transcription |
| Gap-filling DNA repair synthesis and ligation in GG-NER |
| Gap-filling DNA repair synthesis and ligation in TC-NER |
| Global Genomic NER (GG-NER) |
| Lagging Strand Synthesis |
| Leading Strand Synthesis |
| Mismatch Repair |
| Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) |
| Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) |
| Mitotic G1-G1/S phases |
| Nucleotide Excision Repair |
| PCNA-Dependent Long Patch Base Excision Repair |
| Polymerase switching |
| Polymerase switching on the C-strand of the telomere |
| Processive synthesis on the C-strand of the telomere |
| Processive synthesis on the lagging strand |
| Recognition of DNA damage by PCNA-containing replication complex |
| Removal of the Flap Intermediate |
| Removal of the Flap Intermediate from the C-strand |
| Repair synthesis for gap-filling by DNA polymerase in TC-NER |
| Repair synthesis of patch ~27-30 bases long by DNA polymerase |
| Resolution of Abasic Sites (AP sites) |
| Resolution of AP sites via the multiple-nucleotide patch replacement pathway |
| S Phase |
| Synthesis of DNA |
| Telomere C-strand (Lagging Strand) Synthesis |
| Telomere Maintenance |
| Termination of translesion DNA synthesis |
| Transcription-coupled NER (TC-NER) |
| Translesion Synthesis by POLH |
| Translesion synthesis by POLI |
| Translesion synthesis by POLK |
| Translesion synthesis by REV1 |
| Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 | 0.24 | 1 | 0 | ORPHANET_UNIPROT |
| Adenocarcinoma | 0.128967513 | 25 | 0 | BeFree_CTD_human_LHGDN |
| Lung Neoplasms | 0.123538676 | 5 | 0 | BeFree_CTD_human_LHGDN |
| Brain Neoplasms | 0.123452799 | 6 | 0 | BeFree_CTD_human_GAD |
| Hepatoblastoma | 0.120814326 | 4 | 0 | BeFree_CTD_human |
| Ischemia | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Psoriasis | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| IGA Glomerulonephritis | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Focal glomerulosclerosis | 0.12 | 1 | 0 | CTD_human |
| Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
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