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This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码结合所述固醇调节元件-1(S??RE1),这是一种十聚体侧翼的低密度脂蛋白受体基因和参与固醇生物合成某些基因的转录因子。该蛋白质被合成为一个连接到在核膜和内质网的前体。以下裂解,成熟蛋白转位到细胞核并通过结合到SRE1激活转录。固醇抑制前体的裂解,和成熟的核形式迅速分解代谢,由此降低转录。该蛋白是基本螺旋 - 环 - 螺旋 - 亮氨酸拉链(bHLH结构-Zip的)转录因子家族的一个成员。该基因位于史密斯马盖尼斯综合征区域内对染色体17的两个转录物变体编码不同同种型已发现此基因。 [由RefSeq的,2008年7月提供]
SREBF1基因(以及对应的蛋白质)的细胞分布位置:
SREBF1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Diabetes Mellitus, Experimental | 0.2 | 3 | 0 | CTD_human_RGD |
Insulin Resistance | 0.2 | 2 | 0 | CTD_human_RGD |
Obesity | 0.13062984 | 16 | 0 | BeFree_CTD_human_GAD |
Fatty Liver | 0.130063212 | 20 | 0 | BeFree_CTD_human_LHGDN |
Liver carcinoma | 0.124624443 | 8 | 0 | BeFree_CTD_human_LHGDN |
Parkinson Disease | 0.122638474 | 2 | 1 | BeFree_GAD_GWASCAT |
Kidney Failure, Chronic | 0.122367032 | 2 | 0 | CTD_human_GAD |
Non-alcoholic Fatty Liver Disease | 0.122171535 | 9 | 0 | BeFree_CTD_human |
Diabetes Mellitus, Non-Insulin-Dependent | 0.09482102 | 15 | 2 | BeFree_GAD_RGD |
Hypercholesterolemia | 0.08973957 | 6 | 0 | BeFree_GAD_RGD |
Diabetic Nephropathy | 0.08 | 1 | 0 | RGD |
Diabetic Neuropathies | 0.08 | 1 | 0 | RGD |
Fetal Growth Retardation | 0.08 | 1 | 0 | RGD |
Kidney Diseases | 0.08 | 1 | 0 | RGD |
Lipoidosis | 0.08 | 1 | 0 | RGD |
Atherosclerosis | 0.00554839 | 5 | 0 | BeFree_GAD |
Prostatic Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
Alzheimer's Disease | 0.004734064 | 2 | 0 | GAD |
Dyslipidemias | 0.004353001 | 6 | 2 | BeFree_LHGDN |
Malignant neoplasm of breast | 0.003995683 | 6 | 0 | BeFree_GAD |
Metabolic Diseases | 0.003810118 | 4 | 0 | BeFree_LHGDN |
Metabolic Syndrome X | 0.003724241 | 6 | 0 | BeFree_GAD |
Mammary Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Steatohepatitis | 0.002985861 | 11 | 0 | BeFree |
Coronary heart disease | 0.002909916 | 3 | 1 | BeFree_GAD |
Hyperlipidemia | 0.002909916 | 3 | 0 | BeFree_GAD |
Schizophrenia | 0.002909916 | 2 | 1 | BeFree_GAD |
Anoxia | 0.00272435 | 1 | 0 | LHGDN |
Hepatitis C | 0.00272435 | 1 | 0 | LHGDN |
Hypertensive disease | 0.00272435 | 1 | 0 | LHGDN |
Hypertriglyceridemia | 0.00272435 | 1 | 0 | LHGDN |
Bone necrosis | 0.00272435 | 1 | 0 | LHGDN |
Coronary Artery Disease | 0.00272435 | 1 | 0 | LHGDN |
Diabetes Mellitus | 0.002714419 | 10 | 0 | BeFree |
Dementia | 0.002638474 | 1 | 0 | BeFree_GAD |
Femur Head Necrosis | 0.002367032 | 1 | 0 | GAD |
Weight Gain | 0.002367032 | 1 | 0 | GAD |
Weight Gain Adverse Event | 0.002367032 | 1 | 0 | GAD |
Diabetes | 0.002171535 | 8 | 0 | BeFree |
Malignant neoplasm of prostate | 0.001628651 | 6 | 0 | BeFree |
Prostate carcinoma | 0.001628651 | 6 | 0 | BeFree |
Breast Carcinoma | 0.001628651 | 6 | 0 | BeFree |
Liver neoplasms | 0.001085767 | 4 | 0 | BeFree |
Arteriosclerosis | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of endometrium | 0.000814326 | 3 | 0 | BeFree |
Hepatitis B | 0.000814326 | 3 | 0 | BeFree |
Hyperinsulinism | 0.000814326 | 3 | 0 | BeFree |
Lipodystrophy | 0.000814326 | 3 | 0 | BeFree |
Familial partial lipodystrophy | 0.000814326 | 3 | 1 | BeFree |
Endometrial Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Uterine Corpus Cancer | 0.000814326 | 3 | 0 | BeFree |
Coronary Arteriosclerosis | 0.000542884 | 2 | 1 | BeFree |
Endometrial Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Fatty Liver, Alcoholic | 0.000542884 | 2 | 0 | BeFree |
Glioblastoma | 0.000542884 | 2 | 0 | BeFree |
liposarcoma | 0.000542884 | 2 | 0 | BeFree |
Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
Microvascular Angina | 0.000542884 | 2 | 0 | BeFree |
Aortic Valve Insufficiency | 0.000271442 | 1 | 0 | BeFree |
Aortic Valve Stenosis | 0.000271442 | 1 | 0 | BeFree |
Noninfiltrating Intraductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Presenile dementia | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Hepatomegaly | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Hyperglycemia | 0.000271442 | 1 | 1 | BeFree |
Hypoglycemia | 0.000271442 | 1 | 0 | BeFree |
Ketosis | 0.000271442 | 1 | 1 | BeFree |
Progeria | 0.000271442 | 1 | 1 | BeFree |
Kidney Failure | 0.000271442 | 1 | 0 | BeFree |
B-Cell Lymphomas | 0.000271442 | 1 | 0 | BeFree |
Hepatocellular Adenoma | 0.000271442 | 1 | 0 | BeFree |
Acquired partial lipodystrophy | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Fibrosis, Liver | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Muscular Dystrophy, Emery-Dreifuss | 0.000271442 | 1 | 0 | BeFree |
Overweight | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Diabetic peripheral neuropathy | 0.000271442 | 1 | 0 | BeFree |
Overnutrition | 0.000271442 | 1 | 0 | BeFree |
Lipoatrophy | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
Trichothiodystrophy Syndromes | 0.000271442 | 1 | 0 | BeFree |
Obesity, Visceral | 0.000271442 | 1 | 0 | BeFree |
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