RIT1 (Ras like without CAAX 1)
- symbol:
- RIT1
- locus group:
- protein-coding gene
- location:
- 1q22
- gene_family:
- RAS type family GTPases
- alias symbol:
- RIBB|ROC1|MGC125864|MGC125865
- alias name:
- Ric-like, expressed in many tissue…
- entrez id:
- 6016
- ensembl gene id:
- ENSG00000143622
- ucsc gene id:
- uc001fmh.3
- refseq accession:
- NM_006912
- hgnc_id:
- HGNC:10023
- approved reserved:
- 1996-08-28
RIT1是RAS超家族（RAS superfamily）中的一个小GTP酶（small GTPase），属于RIT/RIN亚家族（RIT/RIN subfamily）。RAS超家族是一类调控细胞信号转导的关键蛋白，通过结合GTP（激活态）或GDP（失活态）切换功能状态，参与细胞增殖、分化、存活等过程。RIT1与其他RAS家族成员（如HRAS、KRAS、NRAS）类似，具有GTPase结构域，但其N端和C端序列独特，可能赋予其特异性功能。RIT1在多种组织中表达，尤其在神经系统和心脏中丰度较高，其表达产物通过调控MAPK/ERK（促分裂原活化蛋白激酶/细胞外信号调节激酶）和PI3K/AKT（磷脂酰肌醇3激酶/蛋白激酶B）等信号通路影响细胞生长、代谢和应激响应。RIT1突变（如错义突变M90I、A57G等）会导致其GTPase活性异常，使其持续处于激活状态，从而过度刺激下游信号通路。这些突变与多种疾病相关，例如努南综合征（Noonan syndrome，一种以先天性心脏病、发育迟缓为特征的遗传病）和某些癌症（如肺癌、白血病）。RIT1过表达可能促进细胞增殖和肿瘤发生，而敲低或抑制其表达可能抑制肿瘤生长，但也可能影响神经发育或心脏功能，因其在正常组织中具有保护作用（如抗氧化应激）。RIT1与家族成员RIN1功能部分重叠，均参与神经元分化和突触可塑性，但RIT1独特地响应氧化应激并激活抗氧化基因。RIT/RIN亚家族的共性包括：依赖GTP/GDP结合状态切换、调控细胞应激和分化、在神经系统中高表达。目前针对RIT1突变或过表达的治疗策略尚在研究中，包括开发靶向其GTPase活性的抑制剂或联合阻断下游通路（如MEK抑制剂）。需注意中文术语"小GTP酶"（small GTPase）或"促分裂原活化蛋白激酶"（MAPK）等若翻译不准确可参考英文原词。
This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Gene Ontology
Subcellular localization of RIT1 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for RIT1:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| NGF signalling via TRKA from the plasma membrane |
| Signalling by NGF |
| Signalling to ERKs |
| Signalling to p38 via RIT and RIN |
| Disease | Score | NofPmids | NofSnps | Source |
| NOONAN SYNDROME 8 | 0.24 | 1 | 2 | CLINVAR_UNIPROT |
| Noonan Syndrome | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
| Inflammatory Bowel Diseases | 0.12 | 1 | 1 | GWASCAT |
| Liver carcinoma | 0.00272435 | 1 | 0 | LHGDN |
| Conduct Disorder | 0.002367032 | 1 | 1 | GAD |
| Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
| Congenital Heart Defects | 0.000271442 | 1 | 0 | BeFree |
| Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| leukemia | 0.000271442 | 1 | 0 | BeFree |
| Craniofacial Abnormalities | 0.000271442 | 1 | 0 | BeFree |
Contact
No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong
Qilu Normal University · Genelibs Bioinformatics Lab
750 Shunhua Rd, Jinan
2F, Bldg F, University Science Park
Tel: 0531-88819269
WeChat Official Account
Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.
Business Email
E-mail: product@genelibs.com
Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2
