CARM1(也称为PRMT4)属于蛋白质精氨酸甲基转移酶(PRMT)家族,主要功能是通过催化组蛋白和非组蛋白底物中精氨酸残基的甲基化来调控基因表达和信号转导。CARM1在转录激活、RNA加工、细胞分化等过程中发挥关键作用,尤其在胚胎发育、免疫反应和代谢调控中具有重要影响。它的主要作用位点包括组蛋白H3的R17、R26等位点,甲基化这些位点可促进染色质开放和转录激活。CARM1还甲基化多种非组蛋白如p300、MED12等转录辅因子,进一步放大其调控网络。突变或异常表达会导致功能紊乱,例如CARM1缺失会损害脂肪细胞分化和T细胞功能,而过表达与多种癌症(如乳腺癌、前列腺癌)进展相关,可能通过激活致癌通路(如EGFR/ERK)或抑制抑癌因子(如p53)。PRMT家族共性是通过S-腺苷甲硫氨酸提供甲基基团,分为I型(如PRMT1/4/6)、II型(如PRMT5/9)和III型酶,主要差异在甲基化产物类型(单甲基化/不对称或对称二甲基化)。CARM1作为I型PRMT,特异性产生不对称二甲基化修饰。其过表达会增强雌激素受体靶基因转录促进肿瘤生长,同时抑制DNA损伤修复;而敲低会导致胚胎干细胞多能性丧失和肌肉分化缺陷。CARM1还与炎症性疾病相关,通过调控NF-κB通路影响细胞因子产生。药物开发中针对其活性位点的抑制剂(如TP-064)正在临床试验中用于癌症治疗。
This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts specifically on histones and other chromatin-associated proteins and is involved in regulation of gene expression. The enzyme may act in association with other proteins or within multi-protein complexes and may play a role in cell type-specific functions and cell lineage specification. A related pseudogene is located on chromosome 9. [provided by RefSeq, Aug 2013]
该基因属于蛋白质精氨酸甲基(PRMT)家族。所编码的酶蛋白质催化精氨酰残基的胍基氮的甲基化。酶特异性地作用于组蛋白和其他染色质相关蛋白并且参与基因表达的调控。酶可以以与其它蛋白结合或多蛋白复合物之内采取行动,并且可以在细胞类型特异性的功能和细胞谱系规范的作用。一个相关的假基因位于[由RefSeq的,2013年8月提供] 9号染色体
CARM1基因(以及对应的蛋白质)的细胞分布位置:
CARM1基因的本体(GO)信息:
名称 |
---|
Activation of gene expression by SREBF (SREBP) |
BMAL1:CLOCK,NPAS2 activates circadian gene expression |
Chromatin modifying enzymes |
Chromatin organization |
Circadian Clock |
Developmental Biology |
Fatty acid, triacylglycerol, and ketone body metabolism |
Gene Expression |
Generic Transcription Pathway |
Metabolism |
Metabolism of lipids and lipoproteins |
Mitochondrial biogenesis |
Organelle biogenesis and maintenance |
PPARA activates gene expression |
Regulation of cholesterol biosynthesis by SREBP (SREBF) |
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) |
RMTs methylate histone arginines |
RORA activates gene expression |
Transcriptional activation of mitochondrial biogenesis |
Transcriptional regulation of white adipocyte differentiation |
YAP1- and WWTR1 (TAZ)-stimulated gene expression |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Psoriasis | 0.12 | 1 | 0 | CTD_human |
Liver carcinoma | 0.08 | 1 | 0 | RGD |
Asthma | 0.08 | 1 | 0 | RGD |
Hepatocellular Adenoma | 0.08 | 1 | 0 | RGD |
Malignant neoplasm of breast | 0.006362715 | 8 | 0 | BeFree_GAD |
Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Spina Bifida | 0.002367032 | 1 | 0 | GAD |
Breast Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Prostate carcinoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000814326 | 3 | 0 | BeFree |
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