PAEP(Progestagen-Associated Endometrial Protein),也称为Glycodelin或胎盘蛋白14(PP14),属于lipocalin基因家族。该家族成员通常编码分泌型蛋白,具有结合和运输小分子(如类固醇、脂类)的功能。PAEP主要在女性生殖系统中表达,尤其在子宫内膜、胎盘和卵巢中,其表达受孕激素调控,在妊娠早期子宫内膜分泌期和蜕膜化过程中显著上调。PAEP的生物学功能包括免疫调节(通过抑制自然杀伤细胞和T细胞活性保护胚胎免受母体免疫攻击)、参与受精(修饰精子表面糖蛋白以调节其与卵子结合能力)及胚胎着床(通过调控子宫内膜容受性)。PAEP的突变可能导致复发性流产、不孕或子痫前期等妊娠相关疾病,其表达异常(如过低)与子宫内膜异位症和某些生殖系统肿瘤相关。若PAEP过表达,可能过度抑制母体免疫反应,增加感染风险或影响胚胎发育;而表达降低则可能导致免疫排斥或着床失败。PAEP与乳腺癌、卵巢癌等疾病也存在关联,可能通过调节细胞增殖或凋亡参与肿瘤进展。该基因家族(lipocalin)的共性包括保守的β-桶状结构域、小分子结合能力及参与细胞信号转导、代谢运输等过程。研究PAEP对生殖医学和肿瘤治疗具有潜在价值。
This gene is a member of the kernel lipocalin superfamily whose members share relatively low sequence similarity but have highly conserved exon/intron structure and three-dimensional protein folding. Most lipocalins are clustered on the long arm of chromosome 9. The encoded glycoprotein has been previously referred to as pregnancy-associated endometrial alpha-2-globulin, placental protein 14, and glycodelin, but has been officially named progestagen-associated endometrial protein. Three distinct forms, with identical protein backbones but different glycosylation profiles, are found in amniotic fluid, follicular fluid and seminal plasma of the reproductive system. These glycoproteins have distinct and essential roles in regulating a uterine environment suitable for pregnancy and in the timing and occurrence of the appropriate sequence of events in the fertilization process. A number of alternatively spliced transcript variants have been observed at this locus, but the full-length nature of only two, each encoding the same protein, has been determined. [provided by RefSeq, Jul 2008]
该基因是内核脂质运载超家族,其成员共享相对低的序列相似性,但具有高度保守的外显子/??内含子结构和三维蛋白质折叠的成员。大多数脂笼蛋白聚集于染色体9的长臂的编码糖蛋白已被先前称为妊娠相关的子宫内膜α-2-球蛋白,胎盘蛋白14,以及glycodelin,但已被正式命名的孕激素相关性子宫内膜蛋白。三种不同的形式,可以有相同的蛋白质骨架,但不同的糖基化分布,羊水,卵泡液和生殖系统的精浆中找到。这些糖蛋白在调节适于怀孕并在受精过程的事件的适当的时序,和发生子宫环境不同的和必不可少的作用。若干可变剪接转录物变体已在该基因座观察到的,但只有两个全长的性质,每个编码相同的蛋白质,已确定。 [由RefSeq的,2008年7月提供]
PAEP基因(以及对应的蛋白质)的细胞分布位置:
PAEP基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Mammary Neoplasms | 0.122995792 | 3 | 0 | BeFree_CTD_human_LHGDN |
Spontaneous abortion | 0.12 | 1 | 0 | CTD_human |
Hepatitis C | 0.030672932 | 113 | 4 | BeFree |
Hepatitis C, Chronic | 0.027687071 | 102 | 2 | BeFree |
Hepatitis B | 0.009771907 | 36 | 0 | BeFree |
Hepatitis B, Chronic | 0.007057489 | 26 | 0 | BeFree |
HIV Infections | 0.004885954 | 18 | 0 | BeFree |
Endometriosis | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Fibroid Tumor | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Malignant neoplasm of breast | 0.002985861 | 11 | 0 | BeFree |
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