TBL1XR1 (TBL1X/Y related 1)
- symbol:
- TBL1XR1
- locus group:
- protein-coding gene
- location:
- 3q26.32
- gene_family:
- WD repeat domain containing
- alias symbol:
- IRA1|FLJ12894|TBLR1|C21|DC42
- alias name:
- F-box-like/WD repeat-containing pr…
- entrez id:
- 79718
- ensembl gene id:
- ENSG00000177565
- ucsc gene id:
- uc003fiw.5
- refseq accession:
- NM_024665
- hgnc_id:
- HGNC:29529
- approved reserved:
- 2004-08-09
TBL1XR1（Transducin Beta-Like 1 X-Linked Receptor 1）基因编码的蛋白质属于WD40重复蛋白家族，该家族成员通常参与蛋白质相互作用和信号转导复合物的组装。TBL1XR1蛋白是核受体共抑制复合物（N-CoR/SMRT）的关键组成部分，主要通过与组蛋白去乙酰化酶（HDAC3）相互作用来调控基因转录，影响细胞分化、代谢和发育等过程。它的主要作用位点在细胞核内，通过表观遗传修饰（如组蛋白去乙酰化）抑制靶基因表达。TBL1XR1的突变可能导致其功能异常，例如在某些癌症（如淋巴瘤、乳腺癌）中，突变会破坏其与N-CoR/SMRT复合物的结合，导致转录失调，促进肿瘤发生。此外，该基因的异常与神经发育障碍（如智力障碍、自闭症谱系障碍）相关，可能因其在神经元分化中的作用受损。如果TBL1XR1过表达，可能增强对靶基因的抑制，影响细胞周期和凋亡，导致增殖异常；而降低表达可能使N-CoR/SMRT复合物不稳定，引发转录激活失控，与癌症或炎症性疾病相关。TBL1XR1属于TBL1基因家族，该家族成员（如TBL1X、TBL1Y）均含有WD40结构域，介导蛋白质相互作用，并在转录调控中发挥类似功能。家族共性包括参与染色质重塑、核受体信号通路及胚胎发育调控。研究显示，TBL1XR1还与Wnt/β-catenin通路交叉作用，影响细胞命运决定。其表达水平变化可能间接干扰其他基因（如MYC、CCND1）的调控网络，进一步影响疾病进程。
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质具有与WD40含有重复序列的蛋白家族的成员的序列相似性。该WD40集团是一个大家族的蛋白质，这似乎有一个调节功能。据信，所述WD40重复介导蛋白质 - 蛋白质相互作用和家庭中涉及的信号转导，RNA加工，基因调控，囊泡运输，细胞骨架组装的部件，并且可以发挥cytotypic分化的控制的作用。 [由RefSeq的，2008年7月提供]
基因本体信息
TBL1XR1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
TBL1XR1基因的本体（GO）信息：
| 名称 |
|---|
| 4310 Wnt signaling pathway [PATH:hsa04310] |
| 名称 |
|---|
| Activation of gene expression by SREBF (SREBP) |
| BMAL1:CLOCK,NPAS2 activates circadian gene expression |
| Chromatin modifying enzymes |
| Chromatin organization |
| Circadian Clock |
| Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants |
| Constitutive Signaling by NOTCH1 PEST Domain Mutants |
| Developmental Biology |
| Disease |
| Diseases of signal transduction |
| Fatty acid, triacylglycerol, and ketone body metabolism |
| Gene Expression |
| Generic Transcription Pathway |
| HDACs deacetylate histones |
| Metabolism of lipids and lipoproteins |
| Mitochondrial biogenesis |
| NOTCH1 Intracellular Domain Regulates Transcription |
| 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) |
| RORA activates gene expression |
| Signaling by NOTCH |
| Signaling by NOTCH1 |
| Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer |
| Signaling by NOTCH1 in Cancer |
| Signaling by NOTCH1 PEST Domain Mutants in Cancer |
| 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 |
| Acute Promyelocytic Leukemia | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
| IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Carcinogenesis | 0.000814326 | 3 | 0 | BeFree |
| Acute lymphocytic leukemia | 0.000542884 | 2 | 0 | BeFree |
| Intellectual Disability | 0.000542884 | 2 | 0 | BeFree |
| Autistic Disorder | 0.000542884 | 2 | 0 | BeFree |
| Obesity | 0.000542884 | 2 | 0 | BeFree |
| Neurofibromatosis 1 | 0.000542884 | 2 | 0 | BeFree |
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