MADCAM1 (mucosal vascular addressin cell adhesion molecule 1)
- symbol:
- MADCAM1
- locus group:
- protein-coding gene
- location:
- 19p13.3
- gene_family:
- Immunoglobulin-like domain containing
- alias symbol:
- MACAM1
- alias name:
- mucosal addressin cell adhesion mo…
- entrez id:
- 8174
- ensembl gene id:
- ENSG00000099866
- ucsc gene id:
- uc002los.5
- refseq accession:
- NM_130760
- hgnc_id:
- HGNC:6765
- approved reserved:
- 2000-02-11
MADCAM1（Mucosal Vascular Addressin Cell Adhesion Molecule 1）是一种细胞表面黏附分子，属于免疫球蛋白超家族（IgSF）成员，主要表达于肠道、脾脏和淋巴结等黏膜相关淋巴组织（MALT）的高内皮微静脉（HEV）上。它的生物学功能是介导淋巴细胞归巢（homing），即引导淋巴细胞从血液迁移至特定组织，尤其是肠道黏膜。MADCAM1通过与淋巴细胞表面的整合素α4β7和L-选择素（CD62L）结合，促进淋巴细胞黏附并穿越血管内皮，进入肠道固有层或派氏结（Peyer's patches），从而参与黏膜免疫应答。该基因的表达受炎症因子（如TNF-α和IL-1β）调控，在炎症性肠病（IBD）如克罗恩病和溃疡性结肠炎中表达显著升高。突变或异常表达可能导致免疫细胞迁移紊乱，例如MADCAM1过表达会加剧肠道炎症，而降低表达则可能削弱黏膜免疫防御，增加感染风险。MADCAM1属于地址素（addressin）家族，该家族共性是通过特定配体-受体相互作用指导免疫细胞定向迁移。此外，MADCAM1还与HIV感染相关，因其靶向的α4β7整合素是HIV进入肠道黏膜的途径之一。针对MADCAM1的抗体（如vedolizumab）已用于IBD治疗，通过阻断α4β7-MADCAM1相互作用抑制炎症反应。
The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是内皮细胞粘附分子，与白细胞β7整联蛋白LPAM-1（α4β7同），L-选择素和髓系细胞VLA-4（alpha4beta1）优先相互作用，以直接的白细胞到粘膜和发炎的组织。它是免疫球蛋白家族的成员，并且是类似于ICAM1和VCAM1。已发现此基因至少七个编码不同蛋白同种型的可变剪接转录物，但一些变体的全长性质尚未确定。 [由RefSeq的，2008年7月提供]
基因本体信息
MADCAM1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
MADCAM1基因的本体（GO）信息：
| 名称 |
|---|
| 4514 Cell adhesion molecules (CAMs) [PATH:hsa04514] |
| 4672 Intestinal immune network for IgA production [PATH:hsa04672] |
| 名称 |
|---|
| Adaptive Immune System |
| Extracellular matrix organization |
| Immune System |
| Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| Integrin cell surface interactions |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Colitis | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Ovarian Cysts | 0.12 | 1 | 0 | CTD_human |
| Crohn Disease | 0.08272435 | 2 | 0 | LHGDN_RGD |
| Food Allergy | 0.08 | 1 | 0 | RGD |
| Gastritis | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Inflammation | 0.00272435 | 1 | 0 | LHGDN |
| Graft-vs-Host Disease | 0.002367032 | 1 | 0 | GAD |
| Mucosa-Associated Lymphoid Tissue Lymphoma | 0.000814326 | 3 | 0 | BeFree |
| Adhesion of intestine | 0.000271442 | 1 | 0 | BeFree |
| Ulcerative Colitis | 0.000271442 | 1 | 0 | BeFree |
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