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This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
[中文简述(自动翻译):]  该基因编码的多囊蛋白家族的一个成员。所编码的糖蛋白中含有大量的N末端胞外区,多个跨膜结构域和胞质的C-尾。它是一个完整的膜蛋白,其功能是作为钙可渗透阳离子通道和胞内钙内环境稳定的调节器。它也参与细胞 - 细胞/基质相互作用和可调节G蛋白偶联的信号传导途径。它在肾小管发展中的作用,并在这个基因导致常染色体显性多囊肾病1型(ADPKD1)突变。 ADPKD1特征是填充流体的囊肿即替换在终末期肾衰竭正常肾组织和结果的生长。编码不同亚型的剪接变异体已经注意到了这个基因。也,六假,在16p染色体的已知重复区域紧密相连,已经描述。 [由RefSeq的,2008年10月提供]
PKD1基因(以及对应的蛋白质)的细胞分布位置:
PKD1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Polycystic Kidney, Autosomal Dominant | 0.346886184 | 313 | 12 | BeFree_CLINVAR_CTD_human_GAD_LHGDN |
Polycystic Kidney Diseases | 0.229475 | 60 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
POLYCYSTIC KIDNEY DISEASE 1 | 0.204538567 | 33 | 10 | BeFree_GAD_MGD_UNIPROT |
Cyst | 0.137402074 | 38 | 1 | BeFree_CTD_human_LHGDN |
Polycystic kidneys, severe infantile with tuberous sclerosis | 0.12 | 0 | 0 | ORPHANET |
Autosomal Recessive Polycystic Kidney Disease | 0.081628651 | 6 | 0 | BeFree_MGD |
Kidney Failure, Chronic | 0.007057489 | 26 | 0 | BeFree |
Tuberous Sclerosis | 0.006524536 | 15 | 0 | BeFree_LHGDN |
Kidney Failure | 0.005971721 | 22 | 0 | BeFree |
Kidney Diseases | 0.004538567 | 8 | 0 | BeFree_GAD |
Chronic kidney disease stage 5 | 0.00434307 | 16 | 0 | BeFree |
Hypertensive disease | 0.004267125 | 7 | 0 | BeFree_GAD |
Simple renal cyst | 0.003528744 | 13 | 0 | BeFree |
Neoplasm Metastasis | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Stomach Neoplasms | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Alcoholic Intoxication, Chronic | 0.002367032 | 1 | 0 | GAD |
Caroli Disease | 0.002367032 | 1 | 0 | GAD |
Cystic kidney | 0.001900093 | 7 | 0 | BeFree |
cystic disease | 0.001357209 | 5 | 0 | BeFree |
MRSA - Methicillin resistant Staphylococcus aureus infection | 0.001357209 | 5 | 0 | BeFree |
Polycystic Kidney - body part | 0.001357209 | 5 | 0 | BeFree |
Influenza | 0.001085767 | 4 | 0 | BeFree |
Aneurysm | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
Intracranial Aneurysm | 0.000814326 | 3 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000814326 | 3 | 0 | BeFree |
Metabolic Syndrome X | 0.000814326 | 3 | 0 | BeFree |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Stomach Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Polycystic kidney disease, type 2 | 0.000814326 | 3 | 0 | BeFree |
Diabetes | 0.000542884 | 2 | 0 | BeFree |
Diabetes Mellitus | 0.000542884 | 2 | 0 | BeFree |
Epithelial cyst | 0.000542884 | 2 | 0 | BeFree |
Congestive heart failure | 0.000542884 | 2 | 0 | BeFree |
Marfan Syndrome | 0.000542884 | 2 | 0 | BeFree |
Obesity | 0.000542884 | 2 | 0 | BeFree |
Subarachnoid Hemorrhage | 0.000542884 | 2 | 0 | BeFree |
Polycystic liver disease | 0.000542884 | 2 | 0 | BeFree |
Angiomyolipoma | 0.000542884 | 2 | 0 | BeFree |
Pancreatic carcinoma | 0.000542884 | 2 | 0 | BeFree |
Liver cyst | 0.000542884 | 2 | 1 | BeFree |
Malignant neoplasm of pancreas | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Mammary Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Chronic Kidney Diseases | 0.000542884 | 2 | 0 | BeFree |
Renal Insufficiency | 0.000542884 | 2 | 0 | BeFree |
alpha-Thalassemia | 0.000271442 | 1 | 0 | BeFree |
Anaplasia | 0.000271442 | 1 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Papillary | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Connective Tissue Diseases | 0.000271442 | 1 | 0 | BeFree |
Dextrocardia | 0.000271442 | 1 | 0 | BeFree |
Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
Epithelial hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Congenital Heart Defects | 0.000271442 | 1 | 0 | BeFree |
Heart failure | 0.000271442 | 1 | 0 | BeFree |
Ventral Hernia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
Myocardial Infarction | 0.000271442 | 1 | 0 | BeFree |
Neurilemmoma | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
Papilloma | 0.000271442 | 1 | 0 | BeFree |
Lobar Pneumonia | 0.000271442 | 1 | 0 | BeFree |
Pseudoxanthoma Elasticum | 0.000271442 | 1 | 0 | BeFree |
Situs Inversus | 0.000271442 | 1 | 0 | BeFree |
B-Cell Lymphomas | 0.000271442 | 1 | 0 | BeFree |
Retinal defect | 0.000271442 | 1 | 0 | BeFree |
Streptococcal pneumonia | 0.000271442 | 1 | 0 | BeFree |
Infections, Hospital | 0.000271442 | 1 | 0 | BeFree |
Subependymal Giant Cell Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Ruptured cerebral aneurysm | 0.000271442 | 1 | 0 | BeFree |
Dyslipidemias | 0.000271442 | 1 | 0 | BeFree |
Cardiovascular Abnormalities | 0.000271442 | 1 | 0 | BeFree |
Congenital hypoplasia of lung | 0.000271442 | 1 | 0 | BeFree |
Spastic syndrome | 0.000271442 | 1 | 0 | BeFree |
Nevus elasticus | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma of bone | 0.000271442 | 1 | 0 | BeFree |
Progressive Neoplastic Disease | 0.000271442 | 1 | 0 | BeFree |
Dissecting aneurysm of the thoracic aorta | 0.000271442 | 1 | 0 | BeFree |
Invasive breast carcinoma | 0.000271442 | 1 | 0 | BeFree |
Vascular fragility | 0.000271442 | 1 | 0 | BeFree |
Benign Schwannoma | 0.000271442 | 1 | 0 | BeFree |
vascular aneurysm | 0.000271442 | 1 | 0 | BeFree |
Breast adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Oedema vascular | 0.000271442 | 1 | 0 | BeFree |
alpha^+^ Thalassemia | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
Cystic Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
Idiopathic Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Chronic kidney disease stage 3 | 0.000271442 | 1 | 0 | BeFree |
Progressive cGVHD | 0.000271442 | 1 | 0 | BeFree |
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