ORC1 (origin recognition complex subunit 1)
- symbol:
- ORC1
- locus group:
- protein-coding gene
- location:
- 1p32.3
- gene_family:
- AAA ATPases (ATPases associated with diverse cellular activities)
- alias symbol:
- HSORC1|PARC1
- alias name:
- origin recognition complex, subuni…
- entrez id:
- 4998
- ensembl gene id:
- ENSG00000085840
- ucsc gene id:
- uc001ctt.4
- refseq accession:
- NM_004153
- hgnc_id:
- HGNC:8487
- approved reserved:
- 1997-06-24
ORC1（起源识别复合体1）是起源识别复合体（ORC）的关键组成部分，属于ORC基因家族。ORC家族由六个亚基（ORC1-6）组成，共同形成DNA复制起始点的识别复合体，在真核生物中高度保守。ORC1是其中最大的亚基，直接结合DNA复制起点，并与其他ORC亚基协作招募其他复制起始因子（如CDC6和MCM复合体），从而启动DNA复制。ORC1的表达具有细胞周期依赖性，通常在G1期达到高峰，确保复制仅在正确时机发生。ORC1的功能不仅限于复制起始，还参与染色质结构维持、基因沉默和着丝粒功能。突变或功能异常可能导致复制缺陷、基因组不稳定，甚至引发疾病。例如，ORC1突变与Meier-Gorlin综合征（一种以侏儒症、小头畸形和骨骼异常为特征的罕见病）相关，患者表现为复制起始障碍和细胞增殖受损。ORC1过表达可能破坏复制时序，导致非计划性DNA复制或基因组重排，而表达降低则可能延缓复制起始，引发复制压力或细胞周期停滞。ORC家族成员的共性在于它们共同形成六聚体复合物，保守的AAA+ ATP酶结构域对DNA结合和复制起始至关重要，且各亚基在物种间功能高度相似。ORC1的调控异常还可能影响其他基因（如细胞周期调控基因）的表达，因其参与染色质重塑。研究ORC1有助于理解癌症（如复制应激相关肿瘤）和发育障碍的机制，并为靶向治疗提供潜在方向。
The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
原点识别复合物（ORC）是用于在真核细胞中的DNA复制的起始高度保守的6亚基蛋白复合物是至关重要的。在酵母中的研究表明，ORC特异性结合复制起点，并作为附加起始因子如的Cdc6和MCM蛋白装配的平台。由该基因编码的蛋白质是ORC复合物的最大亚基。而其它的ORC亚基是在整个细胞周期稳定，这种蛋白的水平在细胞周期，这已被证明是由泛素介导的蛋白质的DNA复制起始之后进行控制期间变化。这种蛋白质被发现是有丝分裂期间选择性地磷酸化。另据报道与MYST组蛋白乙酰转移酶2（MyST2 / HBO1），参与转录沉默的控制的蛋白质相互作用。已发现该基因编码不同亚型选择性剪接转录变异体。 [由RefSeq的，2010年6月提供]
基因本体信息
ORC1基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
ORC1基因的本体（GO）信息：
| 名称 |
|---|
| 4110 Cell cycle [PATH:hsa04110] |
| 名称 |
|---|
| Activation of ATR in response to replication stress |
| Activation of the pre-replicative complex |
| Assembly of the ORC complex at the origin of replication |
| Assembly of the pre-replicative complex |
| Association of licensing factors with the pre-replicative complex |
| CDC6 association with the ORC:origin complex |
| CDT1 association with the CDC6:ORC:origin complex |
| Cell Cycle |
| Cell Cycle Checkpoints |
| Cell Cycle, Mitotic |
| DNA Replication |
| DNA Replication Pre-Initiation |
| E2F mediated regulation of DNA replication |
| E2F-enabled inhibition of pre-replication complex formation |
| G1/S Transition |
| G1/S-Specific Transcription |
| G2/M Checkpoints |
| M/G1 Transition |
| Mitotic G1-G1/S phases |
| Orc1 removal from chromatin |
| Regulation of DNA replication |
| Removal of licensing factors from origins |
| S Phase |
| Switching of origins to a post-replicative state |
| Synthesis of DNA |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| EAR, PATELLA, SHORT STATURE SYNDROME | 0.360814326 | 6 | 2 | BeFree_CTD_human_ORPHANET_UNIPROT |
| Microcephaly | 0.121085767 | 4 | 0 | BeFree_CTD_human |
| Dwarfism | 0.120814326 | 4 | 0 | BeFree_CTD_human |
| Fetal Growth Retardation | 0.12 | 1 | 0 | CTD_human |
| Malaria | 0.000542884 | 2 | 0 | BeFree |
| PITUITARY DWARFISM I | 0.000271442 | 1 | 0 | BeFree |
| HHH syndrome | 0.000271442 | 1 | 0 | BeFree |
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