PRLR(催乳素受体基因)编码催乳素受体(PRLR),属于I型细胞因子受体家族。该基因位于人类5号染色体(5p13.2),其表达产物PRLR是一种跨膜蛋白,通过与催乳素(PRL)结合激活JAK-STAT、MAPK和PI3K/AKT等信号通路,调控乳腺发育、泌乳、生殖功能、免疫调节及代谢平衡等生理过程。PRLR主要表达于乳腺、卵巢、睾丸、肝脏、脑等组织,其突变可导致功能异常,如PRLR的显性负突变(如p.Ile146Leu)与家族性高催乳素血症相关,表现为不孕、月经紊乱和溢乳;而某些激活突变则可能促进乳腺癌等肿瘤发生。PRLR过表达常见于乳腺癌、前列腺癌等恶性肿瘤,通过持续激活下游信号通路促进细胞增殖和存活;PRLR表达降低则可能影响泌乳功能或导致生殖障碍。该基因属于I型细胞因子受体家族,该家族成员(如生长激素受体、促红细胞生成素受体等)均具有保守的细胞外配体结合域、单次跨膜结构域及胞内信号转导域,通过配体诱导的二聚化传递信号。PRLR与疾病关系密切,除肿瘤外,其多态性还与自身免疫性疾病(如类风湿关节炎)风险相关。研究PRLR的调控机制对开发乳腺癌靶向治疗(如使用PRLR拮抗剂)具有重要意义。
This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011]
此基因编码垂体前叶激素,催乳素受体,属于Ⅰ型细胞因子受体家族的类型。催乳素依赖性信号发生如催乳素受体的配体诱导的二聚化的结果。几个可变剪接转录物变体编码的不同膜结合和用于该基因,其可起作用来调节内分泌及在正常组织和癌催乳素分泌作用可溶性同种型已被描述。 [由RefSeq的,2011年2月提供]
PRLR基因(以及对应的蛋白质)的细胞分布位置:
PRLR基因的本体(GO)信息:
名称 |
---|
4630 Jak-STAT signaling pathway [PATH:hsa04630] |
4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
4080 Neuroactive ligand-receptor interaction [PATH:hsa04080] |
4060 Cytokine-cytokine receptor interaction [PATH:hsa04060] |
4917 Prolactin signaling pathway [PATH:hsa04917] |
名称 |
---|
Cytokine Signaling in Immune system |
Growth hormone receptor signaling |
Immune System |
Nuclear signaling by ERBB4 |
Prolactin receptor signaling |
Signaling by ERBB4 |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hyperprolactinemia | 0.360542884 | 2 | 1 | BeFree_CLINVAR_ORPHANET_UNIPROT |
MULTIPLE FIBROADENOMAS OF THE BREAST | 0.36 | 1 | 1 | CLINVAR_ORPHANET_UNIPROT |
Autistic Disorder | 0.122367032 | 1 | 0 | CTD_human_GAD |
Spontaneous abortion | 0.12 | 1 | 0 | CTD_human |
Mammary Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
Animal Mammary Neoplasms | 0.12 | 2 | 0 | CTD_human |
Endometriosis | 0.12 | 1 | 0 | CTD_human |
Familial medullary thyroid carcinoma | 0.08 | 0 | 0 | MGD |
Malignant neoplasm of breast | 0.020054361 | 41 | 1 | BeFree_GAD |
Mammary Neoplasms | 0.017260116 | 12 | 0 | BeFree_GAD_LHGDN |
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