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別名
- c Raf
- C-raf
- C-Raf proto-oncogene, serine/threonine kinase
- CMD1NN
- cRaf
- Craf 1 transforming gene
- Craf1 transforming gene
- EC 2.7.11.1
- kinase Raf1
- Murine sarcoma 3611 oncogene 1
- NS5
- Oncogene MIL
- Oncogene RAF1
- OTTHUMP00000160218
- OTTHUMP00000207813
- OTTHUMP00000209389
- Protein kinase raf 1
- Proto-oncogene c-RAF
- RAF
- Raf 1
- Raf 1 proto oncogene serine/threonine kinase
- Raf proto oncogene serine/threonine protein kinase
- RAF proto-oncogene serine/threonine-protein kinase
- RAF-1
- RAF1
- RAF1_HUMAN
- Similar to murine leukemia viral (V-raf-1) oncogene homolog 1
- TRANSFORMING REPLICATION-DEFECTIVE MURINE RETROVIRUS 3611-MSV
- v raf 1 murine leukemia viral oncogene homolog 1
- v-raf murine sarcoma viral oncogene homolog 1
- v-raf-1 murine leukemia viral oncogene-like protein 1
- vraf1 murine leukemia viral oncogene homolog 1
see all
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機能
Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. Part of the Ras-dependent signaling pathway from receptors to the nucleus. Protects cells from apoptosis mediated by STK3.
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組織特異性
In skeletal muscle, isoform 1 is more abundant than isoform 2.
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関連疾患
Defects in RAF1 are the cause of Noonan syndrome type 5 (NS5) [MIM:611553]. Noonan syndrome (NS) is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. It is a genetically heterogeneous and relatively common syndrome, with an estimated incidence of 1 in 1000-2500 live births.
Defects in RAF1 are the cause of LEOPARD syndrome type 2 (LEOPARD2) [MIM:611554]. LEOPARD syndrome is an autosomal dominant disorder allelic with Noonan syndrome. The acronym LEOPARD stands for lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness.
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配列類似性
Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily.
Contains 1 phorbol-ester/DAG-type zinc finger.
Contains 1 protein kinase domain.
Contains 1 RBD (Ras-binding) domain.
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翻訳後修飾
Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylation at Thr-269 increases its kinase activity. Phosphorylation at Ser-259 induces the interaction with YWHAZ and inactivates kinase activity. Dephosphorylation of Ser-259 by the complex containing protein phosphatase 1, SHOC2 and M-Ras/MRAS relieves inactivation, leading to stimulate RAF1 activity.
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細胞内局在
Cytoplasm. Cell membrane. Colocalizes with RGS14 and BRAF in both the cytoplasm and membranes.
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Information by UniProt