STAT5A (signal transducer and activator of transcription 5A)
- symbol:
- STAT5A
- locus group:
- protein-coding gene
- location:
- 17q21.2
- gene_family:
- SH2 domain containing
- alias symbol:
- MGF
- alias name:
- None
- entrez id:
- 6776
- ensembl gene id:
- ENSG00000126561
- ucsc gene id:
- uc002hzj.3
- refseq accession:
- NM_003152
- hgnc_id:
- HGNC:11366
- approved reserved:
- 1995-11-09
STAT5A（信号转导和转录激活因子5A）属于STAT（Signal Transducer and Activator of Transcription）基因家族，该家族成员在细胞信号转导中起关键作用，通过JAK-STAT通路传递细胞因子（如生长激素、催乳素）的信号。STAT5A主要作用位点是细胞质，在被激活后形成二聚体并转入细胞核，调控靶基因（如细胞周期蛋白、抗凋亡蛋白）的转录。其生物学功能包括促进细胞增殖、分化、存活及免疫调节，尤其在造血系统、乳腺发育和泌乳中发挥核心作用。突变可能导致功能丧失（如STAT5A缺失与免疫缺陷、生长迟缓相关）或持续激活（如某些白血病中STAT5A组成性激活驱动肿瘤发生）。STAT5A过表达常见于血液系统恶性肿瘤（如慢性髓性白血病），导致细胞异常增殖；而低表达可能引发免疫功能障碍或乳腺发育异常。STAT家族共性为：均含SH2结构域（介导蛋白相互作用）、DNA结合域和转录激活域，依赖酪氨酸磷酸化激活。STAT5A与STAT5B高度同源但非冗余，例如STAT5A对泌乳功能更关键。专业术语解释：JAK-STAT通路——细胞外信号通过Janus激酶（JAK）磷酸化STAT蛋白使其激活的传导路径；SH2结构域——能识别磷酸化酪氨酸的蛋白相互作用模块。若存在翻译争议，"Signal Transducer and Activator of Transcription 5A"可保留英文原名。
The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
由该基因编码的蛋白质是STAT转录因子家族的成员。响应于细胞因子和生长因子，STAT家族成员是由受体相关的激酶磷酸化，然后形成同源该转位到细胞核，其中它们作为转录激活剂或异二聚体。该蛋白质是由激活，并介导多种细胞配体，例如IL2，IL3，IL7 GM-CSF，促红细胞生成素，血小板生成素，以及不同的生长激素的应答。在与一个电话/ JAK2基因融合相关的骨髓瘤和淋巴瘤这种蛋白的活化是独立细胞刺激的，并已被证明是对肿瘤发生是至关重要的。该基因的小鼠对应物被发现以诱导BCL2L1 / BCL-X（L），这表明该基因在细胞中的抗凋亡功能的表达。另外剪接转录变体也发现了这种基因。 [由RefSeq的，2013年12月提供]
基因本体信息
STAT5A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
STAT5A基因的本体（GO）信息：
| 名称 |
|---|
| 4012 ErbB signaling pathway [PATH:hsa04012] |
| 4630 Jak-STAT signaling pathway [PATH:hsa04630] |
| 4917 Prolactin signaling pathway [PATH:hsa04917] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5203 Viral carcinogenesis [PATH:hsa05203] |
| 5221 Acute myeloid leukemia [PATH:hsa05221] |
| 5220 Chronic myeloid leukemia [PATH:hsa05220] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 5162 Measles [PATH:hsa05162] |
| 5161 Hepatitis B [PATH:hsa05161] |
| 名称 |
|---|
| Cytokine Signaling in Immune system |
| Disease |
| Diseases of signal transduction |
| Downstream signal transduction |
| FGFR1 mutant receptor activation |
| Growth hormone receptor signaling |
| Interleukin-2 signaling |
| Interleukin-3, 5 and GM-CSF signaling |
| Interleukin-7 signaling |
| Nuclear signaling by ERBB4 |
| Prolactin receptor signaling |
| Signaling by ERBB4 |
| Signaling by FGFR in disease |
| Signaling by FGFR1 fusion mutants |
| Signaling by FGFR1 in disease |
| Signaling by FGFR1 mutants |
| Signaling by Interleukins |
| Signaling by Leptin |
| Signaling by PDGF |
| Signaling by SCF-KIT |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Mammary Neoplasms, Experimental | 0.2 | 4 | 0 | CTD_human_RGD |
| Mammary Neoplasms | 0.134978961 | 10 | 0 | BeFree_CTD_human_LHGDN |
| Adenocarcinoma | 0.123267234 | 5 | 0 | BeFree_CTD_human_LHGDN |
| Lung Neoplasms | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Animal Mammary Neoplasms | 0.12 | 5 | 0 | CTD_human |
| Carcinoma, Lobular | 0.12 | 1 | 0 | CTD_human |
| Noninfiltrating Intraductal Carcinoma | 0.12 | 1 | 0 | CTD_human |
| Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
| Precancerous Conditions | 0.12 | 1 | 0 | CTD_human |
| Ductal Carcinoma | 0.12 | 1 | 0 | CTD_human |
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