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This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
[中文简述(自动翻译):]  该基因编码IV型胶原α蛋白。 IV型胶原蛋白是基底膜的组成部分。该基因股与在相对链上的旁系同源基??因的双向启动子。该蛋白由氨基末端7S域,三螺旋形成胶原结构域和羧基端非胶原结构域的。它可以用作异源的部分,并与其他细胞外基质组分如perlecans,蛋白聚糖,和层粘连蛋白相互作用。此外,在被称为arresten的生物活性片段,其具有抗血管生成和肿瘤抑制性质的非胶原羧基端结构域的结果的蛋白水解切割。突变该基因引起porencephaly,脑血管疾病,和肾和肌肉缺陷。选择性剪接结果在多个抄本变形。 [由RefSeq的,2014年12月提供]
COL4A1基因(以及对应的蛋白质)的细胞分布位置:
COL4A1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | 0.481085767 | 5 | 6 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| PORENCEPHALY, FAMILIAL | 0.444071628 | 15 | 7 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
| Schizencephaly | 0.360271442 | 1 | 1 | BeFree_CLINVAR_ORPHANET_UNIPROT |
| RETINAL ARTERIES, TORTUOSITY OF | 0.36 | 1 | 1 | CLINVAR_ORPHANET_UNIPROT |
| BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE | 0.240542884 | 2 | 11 | BeFree_CLINVAR_CTD_human |
| Walker-Warburg congenital muscular dystrophy | 0.200814326 | 3 | 0 | BeFree_MGD_ORPHANET |
| BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES | 0.2 | 7 | 0 | MGD_UNIPROT |
| Diabetic Nephropathy | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Congenital porencephaly | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Focal glomerulosclerosis | 0.12 | 2 | 0 | CTD_human |
| Infectious Canine Hepatitis | 0.12 | 0 | 2 | CLINVAR |
| Nephrotic Syndrome | 0.12 | 1 | 0 | CTD_human |
| Obesity | 0.12 | 1 | 1 | GWASCAT |
| Calcification of coronary artery | 0.12 | 1 | 1 | GWASCAT |
| Familial vascular leukoencephalopathy | 0.12 | 0 | 0 | ORPHANET |
| HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO | 0.12 | 1 | 0 | UNIPROT |
| Intracranial Aneurysm | 0.005905708 | 4 | 0 | BeFree_GAD_LHGDN |
| Mammary Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
| Muscle Cramp | 0.004353001 | 6 | 1 | BeFree_LHGDN |
| Cerebrovascular accident | 0.004267125 | 8 | 0 | BeFree_GAD |
| Acquired porencephaly | 0.003257302 | 12 | 0 | BeFree |
| melanoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Coronary Artery Disease | 0.002909916 | 3 | 1 | BeFree_GAD |
| Hematuria | 0.00272435 | 1 | 0 | LHGDN |
| Leukoplakia | 0.00272435 | 1 | 0 | LHGDN |
| Cystic Kidney Diseases | 0.00272435 | 1 | 0 | LHGDN |
| Myocardial Infarction | 0.002638474 | 2 | 0 | BeFree_GAD |
| Atherosclerosis | 0.002367032 | 1 | 0 | GAD |
| Mental disorders | 0.002367032 | 1 | 1 | GAD |
| Chorioamnionitis | 0.002367032 | 1 | 0 | GAD |
| Fetal Membranes, Premature Rupture | 0.002367032 | 1 | 0 | GAD |
| Premature Obstetric Labor | 0.002367032 | 1 | 0 | GAD |
| Parkinson Disease | 0.002367032 | 1 | 1 | GAD |
| Periodontitis | 0.002367032 | 1 | 0 | GAD |
| Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
| Subarachnoid Hemorrhage | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Premature Birth | 0.002367032 | 1 | 0 | GAD |
| Intracranial Hemorrhages | 0.002367032 | 1 | 0 | GAD |
| Vascular calcification | 0.002367032 | 1 | 1 | GAD |
| Fibrinogen Adverse Event | 0.002367032 | 1 | 1 | GAD |
| Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 0.002367032 | 1 | 0 | GAD |
| Cerebral Hemorrhage | 0.002367032 | 1 | 0 | GAD |
| Cerebral Small Vessel Diseases | 0.001900093 | 7 | 0 | BeFree |
| Leukoencephalopathies | 0.001085767 | 4 | 0 | BeFree |
| CADASIL Syndrome | 0.001085767 | 4 | 0 | BeFree |
| Coronary heart disease | 0.000814326 | 3 | 0 | BeFree |
| Kidney Diseases | 0.000542884 | 2 | 1 | BeFree |
| Myopathy | 0.000542884 | 2 | 0 | BeFree |
| Vascular Diseases | 0.000542884 | 2 | 1 | BeFree |
| Irido-corneal dysgenesis | 0.000542884 | 2 | 0 | BeFree |
| Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
| Anemia, Hemolytic | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Cyst | 0.000271442 | 1 | 0 | BeFree |
| Epilepsy | 0.000271442 | 1 | 0 | BeFree |
| Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
| Glioma | 0.000271442 | 1 | 0 | BeFree |
| Atrial Septal Defects | 0.000271442 | 1 | 0 | BeFree |
| Hypercholesterolemia | 0.000271442 | 1 | 2 | BeFree |
| Hypertensive disease | 0.000271442 | 1 | 0 | BeFree |
| Leukomalacia, Periventricular | 0.000271442 | 1 | 0 | BeFree |
| Microphthalmos | 0.000271442 | 1 | 0 | BeFree |
| Congenital heart disease | 0.000271442 | 1 | 0 | BeFree |
| Degenerative brain disorder | 0.000271442 | 1 | 0 | BeFree |
| Disease of capillaries | 0.000271442 | 1 | 0 | BeFree |
| Dyslipidemias | 0.000271442 | 1 | 3 | BeFree |
| Axenfeld anomaly (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| AICARDI-GOUTIERES SYNDROME | 0.000271442 | 1 | 0 | BeFree |
| Thin basement membrane disease | 0.000271442 | 1 | 0 | BeFree |
| Developmental delay (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Cortical Dysplasia | 0.000271442 | 1 | 0 | BeFree |
| Muscle eye brain disease | 0.000271442 | 1 | 0 | BeFree |
| Multisystem disorder | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| AICARDI-GOUTIERES SYNDROME 1 | 0.000271442 | 1 | 0 | BeFree |
| Cerebral Aneurysm | 0.000271442 | 1 | 0 | BeFree |
| Ischemic stroke | 0.000271442 | 1 | 0 | BeFree |
| Paralytic stroke | 0.000271442 | 1 | 0 | BeFree |
| Chronic Kidney Diseases | 0.000271442 | 1 | 3 | BeFree |
| Alport Syndrome, X-Linked | 0.000271442 | 1 | 0 | BeFree |
| Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | 0.000271442 | 1 | 0 | BeFree |
| ARTERIAL TORTUOSITY SYNDROME | 0.000271442 | 1 | 0 | BeFree |
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