RNASE6 (ribonuclease A family member k6)
- symbol:
- RNASE6
- locus group:
- protein-coding gene
- location:
- 14q11.2
- gene_family:
- Ribonucleases, RNase A
- alias symbol:
- RAD1|RNaseK6
- alias name:
- RNase k6
- entrez id:
- 6039
- ensembl gene id:
- ENSG00000169413
- ucsc gene id:
- uc001vye.4
- refseq accession:
- NM_005615
- hgnc_id:
- HGNC:10048
- approved reserved:
- 1997-01-08
RNASE6（核糖核酸酶6）属于核糖核酸酶A超家族（RNase A superfamily），这是一类能够切割RNA分子的小型分泌蛋白。该家族成员通常具有保守的催化结构域，参与先天免疫、血管生成和宿主防御等功能。RNASE6主要在人体中性粒细胞和巨噬细胞中表达，其表达产物是一种具有抗菌活性的蛋白质，能够通过降解细菌RNA来直接杀死病原体，尤其在泌尿系统和呼吸道黏膜防御中起关键作用。RNASE6的作用位点集中在带负电荷的细菌细胞表面，通过静电相互作用结合并破坏微生物。该基因突变可能导致抗菌功能受损，增加泌尿系统感染或炎症性疾病的风险。研究发现RNASE6与慢性肾病、前列腺炎等疾病相关，其单核苷酸多态性（SNP）可能影响个体对感染的易感性。当RNASE6过表达时，会增强机体对细菌感染的清除能力，但可能引发过度炎症反应；而表达降低则会导致免疫防御功能减弱，增加反复感染风险。该基因家族成员（包括RNASE1、RNASE3等）均具有典型的RNA水解酶活性，但各自具有组织特异性分布和独特功能。例如RNASE3（嗜酸性粒细胞阳离子蛋白）主要参与抗寄生虫免疫，而RNASE1则在胰腺消化功能中起作用。RNASE6的抗菌机制涉及直接酶活性和非酶活性的膜破坏作用，这种双重功能使其成为先天免疫系统的重要效应分子。目前针对该基因的研究主要集中在开发基于其抗菌特性的新型抗感染药物，以及探索其在炎症性疾病中的调控机制。
The protein encoded by this gene is a member of the ribonuclease A superfamily and functions in the urinary tract. The protein has broad-spectrum antimicrobial activity against pathogenic bacteria. [provided by RefSeq, Nov 2014]
Gene Ontology
Subcellular localization of RNASE6 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for RNASE6:
| Interacting Gene | Interaction | Source/Score |
| Disease | Score | NofPmids | NofSnps | Source |
| Neurotoxicity Syndromes | 0.12 | 1 | 0 | CTD_human |
| Liver diseases | 0.12 | 1 | 0 | CTD_human |
| IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
| Diabetes Mellitus | 0.000542884 | 2 | 0 | BeFree |
| Diabetes | 0.000542884 | 2 | 0 | BeFree |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.000542884 | 2 | 0 | BeFree |
| Xeroderma pigmentosum, group F | 0.000271442 | 1 | 0 | BeFree |
| Erythropoietic Protoporphyria | 0.000271442 | 1 | 0 | BeFree |
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