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功能
Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates ERK1 and ERK2 MAP kinases.
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组织特异性
Widely expressed, with extremely low levels in brain.
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疾病相关
Defects in MAP2K1 are a cause of cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]; also known as cardio-facio-cutaneous syndrome. CFC syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. The inheritance of CFC syndrome is autosomal dominant.
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序列相似性
Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily.
Contains 1 protein kinase domain.
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翻译后修饰
Phosphorylation on Ser/Thr by MAP kinase kinase kinases (RAF or MEKK1) regulates positively the kinase activity.
Acetylation by Yersinia yopJ prevents phosphorylation and activation, thus blocking the MAPK signaling pathway.
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Information by UniProt
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数据库链接
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别名
- Dual specificity mitogen activated protein kinase kinase 1 antibody
- Dual specificity mitogen-activated protein kinase kinase 1 antibody
- ERK activator kinase 1 antibody
- MAP kinase kinase 1 antibody
- MAP kinase/Erk kinase 1 antibody
- MAP2K1 antibody
- MAPK/ERK kinase 1 antibody
- MAPKK 1 antibody
- MAPKK1 antibody
- MEK 1 antibody
- Mek1 antibody
- MEKK1 antibody
- Mitogen activated protein kinase kinase 1 antibody
- MKK 1 antibody
- MKK1 antibody
- MP2K1_HUMAN antibody
- PRKMK1 antibody
- Protein kinase mitogen activated kinase 1 (MAP kinase kinase 1) antibody
- Protein kinase mitogen activated, kinase 1 antibody
see all