SCGB1D1(Secretoglobin Family 1D Member 1)属于分泌球蛋白(secretoglobin)基因家族,该家族成员通常编码小分子分泌蛋白,具有抗炎、免疫调节及细胞信号传导等功能,常见于黏膜组织中。SCGB1D1基因编码的蛋白在呼吸道、生殖道等上皮组织中表达,可能参与局部免疫防御和润滑功能。其蛋白结构包含典型的二硫键,稳定性较高,适合在恶劣的体外环境中发挥作用。SCGB1D1的突变可能影响其分泌或功能,导致黏膜屏障受损,与慢性炎症性疾病(如哮喘)或生殖系统异常有关。若该基因过表达,可能增强黏膜保护作用,但过度免疫抑制也可能增加感染风险;若表达降低,则可能引发组织干燥、炎症或纤维化。该基因家族(如SCGB1A1、SCGB3A2等)的共性包括编码小分子分泌蛋白、参与宿主防御及组织修复。研究还发现SCGB1D1可能与某些癌症(如乳腺癌)的进展相关,但其具体机制仍需进一步探索。
The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. This gene product represents one component of a heterodimeric molecule present in human tears whose elution profile is consistent with prostatein, a tetrameric molecule composed of three peptide components in heterodimers. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 15, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是lipophilin亚科的成员,子宫珠蛋白超家族的一部分,并且是prostatein的同源物,大鼠腹前列腺的主要分泌的糖蛋白。该基因产物表示存在于人的眼泪的洗脱曲线与prostatein,在异三条肽组分组成的四聚体分子一致的异源二聚体分子的一个组成部分。假设人类lipophilins是prostatein的功能对应,它们可转录由类固醇激素调节,具有结合雄激素,其他类固醇,并可能结合和集中雌二醇氮芥,广泛地用于前列腺癌的化学治疗剂的能力。虽然该基因已被报道为15号染色体上,该序列似乎是从11号染色体上的基因的簇,它包括乳腺珠蛋白2 [通过的RefSeq,2008年7月提供]
SCGB1D1基因(以及对应的蛋白质)的细胞分布位置:
SCGB1D1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cholesterol Ester Storage Disease | 0.002985861 | 11 | 0 | BeFree |
Wolman Disease | 0.001085767 | 4 | 0 | BeFree |
Cervical Intraepithelial Neoplasia | 0.000542884 | 2 | 0 | BeFree |
Coronary Arteriosclerosis | 0.000542884 | 2 | 0 | BeFree |
Coronary Artery Disease | 0.000542884 | 2 | 0 | BeFree |
Coronary heart disease | 0.000542884 | 2 | 0 | BeFree |
Hepatitis B | 0.000542884 | 2 | 0 | BeFree |
Cardiovascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
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