NPR1 (natriuretic peptide receptor 1)
- symbol:
- NPR1
- locus group:
- protein-coding gene
- location:
- 1q21.3
- gene_family:
- alias symbol:
- GUCY2A|ANPa
- alias name:
- guanylate cyclase A
- entrez id:
- 4881
- ensembl gene id:
- ENSG00000169418
- ucsc gene id:
- uc001fcs.5
- refseq accession:
- NM_000906
- hgnc_id:
- HGNC:7943
- approved reserved:
- 1990-03-27
Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]
鸟苷酸环化酶，催化从GTP生产的cGMP的，被分类为可溶性和膜的形式（Garbers和洛韦，1994 [搜索PubMed 7982997]）。膜鸟苷酸环化酶，通常被称为鸟苷酸环化酶A到F，可以形成一个家族的细胞表面受体的具有类似地形结构：包含一种蛋白激酶的细胞外配体结合域，单个跨膜结构域和细胞内区域样结构域和环化酶催化域。 GC-A和GC-B作为受体，钠尿肽;他们也被称为心房利钠肽受体A（NPR1）和B型（NPR2; MIM 108961）。也见NPR3（MIM 108962），其编码的蛋白质仅与配体结合跨膜和37个氨基酸的胞质域。 NPR1是一种膜结合的鸟苷酸环化酶是（分别ANP（MIM 108780）和BNP（MIM 600295），）作为受体为心房和脑利尿钠肽。[由OMIM，2009年5月供给]
基因本体信息
NPR1基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
NPR1基因的本体（GO）信息：
| 名称 |
|---|
| 230 Purine metabolism [PATH:hsa00230] |
| 4024 cAMP signaling pathway [PATH:hsa04024] |
| 4022 cGMP - PKG signaling pathway [PATH:hsa04022] |
| 4921 Oxytocin signaling pathway [PATH:hsa04921] |
| 4270 Vascular smooth muscle contraction [PATH:hsa04270] |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Hypertensive disease | 0.219183953 | 13 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
| Heart failure | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Fibrosis | 0.12 | 1 | 0 | CTD_human |
| Cardiomegaly | 0.12 | 1 | 0 | CTD_human |
| Kidney Diseases | 0.12 | 1 | 0 | CTD_human |
| Left Ventricular Hypertrophy | 0.080271442 | 2 | 0 | BeFree_RGD |
| Myocardial Infarction | 0.007458414 | 2 | 0 | GAD_LHGDN |
| Cardiovascular Diseases | 0.005634266 | 3 | 0 | BeFree_GAD_LHGDN |
| Myocardial Ischemia | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
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