RP1 (RP1 axonemal microtubule associated)
- symbol:
- RP1
- locus group:
- protein-coding gene
- location:
- 8q11.23-q12.1
- gene_family:
- alias symbol:
- DCDC4A|ORP1
- alias name:
- doublecortin domain containing 4A|…
- entrez id:
- 6101
- ensembl gene id:
- ENSG00000104237
- ucsc gene id:
- uc003xsd.1
- refseq accession:
- NM_006269
- hgnc_id:
- HGNC:10263
- approved reserved:
- 1986-01-01
RP1（Retinitis Pigmentosa 1）是一个与视网膜色素变性（Retinitis Pigmentosa, RP）密切相关的基因，主要编码一种在光感受器细胞（如视杆和视锥细胞）中表达的蛋白质。RP1蛋白在光感受器外节（OS, Outer Segment）的结构维持和功能中起关键作用，参与微管稳定性和光感受器细胞纤毛的形成。该基因的突变会导致常染色体显性或隐性遗传的视网膜色素变性，这是一种进行性退行性眼病，表现为夜盲、视野缩小及最终视力丧失。RP1突变通常导致截短蛋白或功能丧失，破坏光感受器外节的正常结构，引发细胞凋亡。RP1属于RP1基因家族，该家族成员在纤毛相关结构和功能中具有保守性，尤其在感光细胞中参与光信号传导的细胞器组装。RP1过表达的研究较少，但推测可能干扰微管动力学，影响光感受器形态；而表达降低或缺失会直接导致视网膜变性。此外，RP1与其它纤毛相关基因（如CEP290或USH2A）存在功能关联，突变可能影响纤毛运输系统，加重视网膜病变。目前针对RP1相关视网膜变性的治疗研究包括基因替代疗法和抗凋亡策略，但尚未进入临床广泛应用。专业术语中，"光感受器外节"是光敏色素聚集并启动视觉信号的关键部位，"纤毛"指细胞表面具有运动或感知功能的毛发状结构。
This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]
该基因编码的doublecortin家族的一个成员。由该基因编码的蛋白质含有两个doublecortin域，其结合微管和调节微管聚合。所编码的蛋白质是一个感光体微管相关蛋白和所需的外段光盘的正确堆叠。此蛋白和RP1L1蛋白质，另一具体视网膜蛋白，在影响光敏性和视杆细胞外段形态发生发挥重要和协同作用。因为它能够在体内视网膜氧气水平的反应，该蛋白最初被命名为ORP1（氧 - 调节蛋白-1）。当发现这种蛋白随后指定RP1（色素性视网膜炎1），在这个基因导致常染色体显性遗传视网膜色素变性的突变。在这个基因的突变也会造成常染色体隐性遗传视网膜色素变性。转录变异体导致从一个替代的启动子和选择性剪接已发现，该重叠的当前参考序列和上游有几个外显子和电流参考序列的下游。然而，一些变异的生物有效性和全长自然不能在这个时候确定的。[由RefSeq的，2010年9月提供]
基因本体信息
RP1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
RP1基因的本体（GO）信息：
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| RETINITIS PIGMENTOSA 1 | 0.440271442 | 6 | 8 | BeFree_CLINVAR_CTD_human_MGD_UNIPROT |
| Retinitis Pigmentosa | 0.271362619 | 11 | 5 | BeFree_CLINVAR_GAD_LHGDN_ORPHANET |
| Hyperlipoproteinemia Type IV | 0.12 | 0 | 0 | CTD_human |
| Autosomal dominant retinitis pigmentosa | 0.003528744 | 13 | 6 | BeFree |
| Retinal Diseases | 0.002909916 | 3 | 0 | BeFree_GAD |
| Hypertriglyceridemia | 0.002367032 | 1 | 0 | GAD |
| Hypertriglyceridemia result | 0.002367032 | 1 | 0 | GAD |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Autosomal recessive retinitis pigmentosa | 0.000271442 | 1 | 0 | BeFree |
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