F11R (F11 receptor)
- symbol:
- F11R
- locus group:
- protein-coding gene
- location:
- 1q23.3
- gene_family:
- CD molecules|V-set domain containing|Immunoglobulin-like domain containing
- alias symbol:
- PAM-1|JCAM|JAM-1|JAM-A|JAMA|CD321
- alias name:
- None
- entrez id:
- 50848
- ensembl gene id:
- ENSG00000158769
- ucsc gene id:
- uc009wtt.4
- refseq accession:
- NM_016946
- hgnc_id:
- HGNC:14685
- approved reserved:
- 2001-04-10
F11R基因（也称为JAM-A或Junctional Adhesion Molecule A）编码一种名为连接黏附分子A的蛋白质，属于免疫球蛋白超家族成员。该蛋白主要表达于上皮细胞、内皮细胞和血小板的细胞连接处（紧密连接tight junction），参与细胞间黏附、维持屏障功能及免疫调节。其生物学功能包括促进细胞极性形成、调控白细胞跨内皮迁移（transendothelial migration）以及参与血小板聚集。F11R通过与其他JAM家族成员（如JAM-B、JAM-C）或整合素（如LFA-1）相互作用发挥作用。该基因突变可能导致紧密连接结构异常，与炎症性肠病（如克罗恩病）、动脉粥样硬化和肿瘤转移相关。过表达F11R会增强细胞间黏附，抑制肿瘤细胞侵袭，但可能促进慢性炎症；而表达降低会破坏上皮/内皮屏障功能，增加血管通透性和炎症细胞浸润。F11R属于JAM基因家族，该家族共性为具有免疫球蛋白样结构域、参与细胞连接和免疫细胞运输。在病毒感染（如呼肠孤病毒）中，F11R还可作为病毒受体。其表达受炎症因子（如TNF-α）调控，在伤口愈合过程中表达上调。
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008]
紧密连接代表细胞 - 细胞粘附的一种模式中的上皮或内皮细胞片层，形成围绕细胞连续密封件和用作物理屏障，以防止溶质和水自由通过细胞旁空间。由该免疫球蛋白超家族基因构件所编码的蛋白是上皮紧密连接组件的重要调节器。此外，编码的蛋白质可以作为（1）呼肠孤病毒的受体，（2）的配体的整合LFA1，参与白细胞轮回，及（3）一个血小板受体。多个5‘可变剪接变体，编码相同的蛋白质，已经鉴定，但它们的生物有效性尚未建立。 [由RefSeq的，2008年7月提供]
基因本体信息
F11R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
F11R基因的本体（GO）信息：
| 名称 |
|---|
| 4514 Cell adhesion molecules (CAMs) [PATH:hsa04514] |
| 4530 Tight junction [PATH:hsa04530] |
| 4670 Leukocyte transendothelial migration [PATH:hsa04670] |
| 5120 Epithelial cell signaling in Helicobacter pylori infection [PATH:hsa05120] |
| 名称 |
|---|
| Cell junction organization |
| Cell surface interactions at the vascular wall |
| Cell-Cell communication |
| Cell-cell junction organization |
| Extracellular matrix organization |
| Hemostasis |
| Integrin cell surface interactions |
| Signal Transduction |
| Signaling by TGF-beta Receptor Complex |
| TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) |
| Tight junction interactions |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Hypertensive disease | 0.083810118 | 5 | 0 | BeFree_LHGDN_RGD |
| Inflammation | 0.08272435 | 2 | 0 | LHGDN_RGD |
| Peptic Esophagitis | 0.08 | 1 | 0 | RGD |
| Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
| Prehypertension | 0.08 | 1 | 0 | RGD |
| Transient Ischemic Attack | 0.08 | 1 | 0 | RGD |
| Mammary Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Obesity | 0.002367032 | 1 | 0 | GAD |
| Malignant neoplasm of breast | 0.001900093 | 7 | 0 | BeFree |
| Breast Carcinoma | 0.001900093 | 7 | 0 | BeFree |
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