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Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  激活素是属于转化生长因子-β(TGF-β)结构上相关的信号蛋白的超家族二聚生长和分化因子。活化素信号通过受体丝氨酸激酶的异聚复合物,其中包括至少两个I型(I和IB)和两个第二类(Ⅱ和ⅡB)受体。这些受体都是跨膜蛋白,具有富含半胱氨酸的区域,一个跨膜结构域,并与预测的丝氨酸/苏氨酸特异性的胞质域的配体 - 结合细胞外结构域组成。 I型受体为信号传导至关重要;和II型受体所必需的结合配体和I型受体的表达。 I型和II受体形成配位体后稳定的络合物结合,导致I型受体的磷酸化II型受体。该基因编码激活素这标志着在演唱与II型激活受体的特定转录反应I型受体。在这种基因突变与fibrodysplasia骨化渐进相关联。 [由RefSeq的,2008年7月提供]
ACVR1基因(以及对应的蛋白质)的细胞分布位置:
ACVR1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Fibrodysplasia Ossificans Progressiva | 0.45302921 | 49 | 8 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
Myositis Ossificans | 0.12272435 | 1 | 0 | CTD_human_LHGDN |
Astrocytoma | 0.120542884 | 2 | 0 | BeFree_CTD_human |
Glioma | 0.120271442 | 3 | 0 | BeFree_CTD_human |
IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
Acute Lung Injury | 0.12 | 1 | 0 | CTD_human |
Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
Diabetic Nephropathy | 0.08 | 1 | 0 | RGD |
Polycystic Ovary Syndrome | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
Malignant neoplasm of prostate | 0.005005506 | 3 | 0 | BeFree_GAD |
Asthma | 0.00272435 | 1 | 0 | LHGDN |
Abortion, Habitual | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of breast | 0.002367032 | 1 | 0 | GAD |
Intracranial Aneurysm | 0.002367032 | 1 | 0 | GAD |
Female infertility | 0.002367032 | 1 | 0 | GAD |
Narcolepsy | 0.002367032 | 1 | 0 | GAD |
Cerebrovascular accident | 0.002367032 | 1 | 0 | GAD |
Sudden Cardiac Death | 0.002367032 | 1 | 1 | GAD |
Epithelial ovarian cancer | 0.002367032 | 1 | 0 | GAD |
Congenital Abnormality | 0.001357209 | 5 | 1 | BeFree |
Diffuse Intrinsic Pontine Glioma | 0.001085767 | 4 | 0 | BeFree |
Myeloproliferative disease | 0.000814326 | 3 | 0 | BeFree |
Chronic myeloproliferative disorder | 0.000814326 | 3 | 0 | BeFree |
Congenital Heart Defects | 0.000542884 | 2 | 0 | BeFree |
Ovarian Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
Neonatal Deformity | 0.000542884 | 2 | 0 | BeFree |
Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement | 0.000542884 | 2 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Chondrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 1 | BeFree |
Endocardial Cushion Defects | 0.000271442 | 1 | 0 | BeFree |
granulosa cell tumor | 0.000271442 | 1 | 0 | BeFree |
Heart Septal Defects | 0.000271442 | 1 | 0 | BeFree |
Atrial Septal Defects | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Pheochromocytoma | 0.000271442 | 1 | 0 | BeFree |
Infantile myofibromatosis | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Posterior subcapsular cataract | 0.000271442 | 1 | 0 | BeFree |
ovarian neoplasm | 0.000271442 | 1 | 0 | BeFree |
Congenital malformation syndrome | 0.000271442 | 1 | 0 | BeFree |
Childhood Brain Stem Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Thalamic Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 1 | BeFree |
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