ATF1 (activating transcription factor 1)
- symbol:
- ATF1
- locus group:
- protein-coding gene
- location:
- 12q13.12
- gene_family:
- Basic leucine zipper proteins
- alias symbol:
- TREB36
- alias name:
- None
- entrez id:
- 466
- ensembl gene id:
- ENSG00000123268
- ucsc gene id:
- uc001rww.5
- refseq accession:
- NM_005171
- hgnc_id:
- HGNC:783
- approved reserved:
- 1994-03-16
ATF1（激活转录因子1）属于ATF/CREB转录因子家族，该家族成员均含有碱性亮氨酸拉链（bZIP）结构域，能够识别并结合DNA上的cAMP反应元件（CRE），调控下游基因的转录。ATF1广泛表达于多种组织，尤其在神经系统和内分泌系统中发挥重要作用。它参与细胞增殖、分化、凋亡以及应激反应（如氧化应激和DNA损伤修复）等关键生物学过程。ATF1通常与CREB（cAMP反应元件结合蛋白）形成二聚体，共同调节靶基因表达，其活性受磷酸化调控（如PKA、MAPK等激酶）。突变或异常表达可能导致功能紊乱，例如某些癌症（如黑色素瘤、滑膜肉瘤）中可见ATF1基因易位（如EWSR1-ATF1融合基因），促进肿瘤发生。过表达ATF1可能增强细胞存活和抗凋亡能力，但也会因过度激活增殖信号通路而致癌；低表达则可能削弱应激应答，导致细胞易受损伤。此外，ATF1与神经退行性疾病（如阿尔茨海默病）相关，其表达下降可能影响突触可塑性相关基因的转录。ATF/CREB家族的共性包括依赖cAMP信号通路、通过bZIP结构域形成同源或异源二聚体，并广泛参与代谢、免疫和昼夜节律等生理过程的调控。
This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the expression of downstream target genes, which are related to growth, survival, and other cellular activities. This protein is phosphorylated at serine 63 in its kinase-inducible domain by serine/threonine kinases, cAMP-dependent protein kinase A, calmodulin-dependent protein kinase I/II, mitogen- and stress-activated protein kinase and cyclin-dependent kinase 3 (cdk-3). Its phosphorylation enhances its transactivation and transcriptional activities, and enhances cell transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene has a pseudogene on chromosome 6. [provided by RefSeq, Aug 2010]
此基因编码一种活化转录因子，其属于ATF亚科和的bZIP（基本区域亮氨酸拉链）家族。它通过调节下游靶基因，这是有关生长，存活，和其他细胞活动的表达影响细胞生理过程。这种蛋白是在丝氨酸63在由丝氨酸/苏氨酸激酶，cAMP-依赖性蛋白激酶A，钙调蛋白依赖性蛋白激酶I / II，促分裂原和应激活化的蛋白激酶和细胞周期蛋白依赖性激酶3（其激酶诱导域磷酸化CDK-3）。其磷酸化增强其转录和转录活性，以及??增强细胞转化。这种基因和FUS对由易位染色体诱导染色体22 16或EWSR1融合生成血管瘤样纤维组织细胞瘤和透明细胞肉瘤嵌合蛋白。该基因[由RefSeq的，2010年8月提供]染色体6.假
基因本体信息
ATF1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
ATF1基因的本体（GO）信息：
| 名称 |
|---|
| 5202 Transcriptional misregulation in cancers [PATH:hsa05202] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 名称 |
|---|
| Activated TLR4 signalling |
| CREB phosphorylation |
| Immune System |
| Innate Immune System |
| MAP kinase activation in TLR cascade |
| MAPK targets/ Nuclear events mediated by MAP kinases |
| MyD88 cascade initiated on plasma membrane |
| MyD88 dependent cascade initiated on endosome |
| MyD88-independent TLR3/TLR4 cascade |
| MyD88:Mal cascade initiated on plasma membrane |
| NGF signalling via TRKA from the plasma membrane |
| Nuclear Events (kinase and transcription factor activation) |
| Signal Transduction |
| Signalling by NGF |
| Toll Like Receptor 10 (TLR10) Cascade |
| Toll Like Receptor 2 (TLR2) Cascade |
| Toll Like Receptor 3 (TLR3) Cascade |
| Toll Like Receptor 4 (TLR4) Cascade |
| Toll Like Receptor 5 (TLR5) Cascade |
| Toll Like Receptor 7/8 (TLR7/8) Cascade |
| Toll Like Receptor 9 (TLR9) Cascade |
| Toll Like Receptor TLR1:TLR2 Cascade |
| Toll Like Receptor TLR6:TLR2 Cascade |
| Toll-Like Receptors Cascades |
| TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation |
| TRAF6 Mediated Induction of proinflammatory cytokines |
| TRIF-mediated TLR3/TLR4 signaling |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Polycystic Ovary Syndrome | 0.12 | 1 | 0 | CTD_human |
| Sudden Cardiac Arrest | 0.12 | 1 | 1 | GWASCAT |
| Polycystic Kidney Diseases | 0.08 | 1 | 0 | RGD |
| Sarcoma, Clear Cell | 0.013310583 | 40 | 0 | BeFree_LHGDN |
| Malignant neoplasm of breast | 0.004734064 | 2 | 0 | GAD |
| melanoma | 0.004614512 | 17 | 0 | BeFree |
| Sarcoma | 0.00408156 | 6 | 0 | BeFree_LHGDN |
| Histiocytoma, Angiomatoid Fibrous | 0.002985861 | 11 | 0 | BeFree |
| Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Sudden Cardiac Death | 0.002367032 | 1 | 1 | GAD |
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