MADCAM1
Mucosal Vascular Addressin Cell Adhesion Molecule 1
Gene Information Card
| Symbol | MADCAM1 |
|---|---|
| Full Name | Mucosal Vascular Addressin Cell Adhesion Molecule 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 8174 ncbi.nlm.nih.gov/gene/8174 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q13477 |
| OMIM ID | 102670 |
| HGNC ID | 6766 |
| Aliases | MAdCAM-1, MADCAM-1 |
Description
MADCAM1 encodes a member of the immunoglobulin superfamily. This endothelial cell adhesion molecule mediates lymphocyte homing to mucosal lymphoid tissues and lamina propria by binding to integrin alpha4beta7 on lymphocytes. It is primarily expressed in high endothelial venules of Peyer's patches and mesenteric lymph nodes, as well as in the intestinal lamina propria. Alternative splicing generates isoforms that may be membrane-bound or soluble.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory Bowel Disease (IBD) | Upregulated MADCAM1 expression on intestinal venules promotes excessive lymphocyte recruitment via alpha4beta7 integrin, contributing to chronic inflammation. | ClinVar, NCBI Gene |
| Ulcerative Colitis | Increased MADCAM1 expression in colonic mucosa correlates with disease activity; anti-MADCAM1 antibodies are under investigation. | ClinVar, NCBI Gene |
| Crohn's Disease | Similar mechanism as IBD; MADCAM1 blockade reduces lymphocyte trafficking to inflamed gut. | ClinVar, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small Intestine | 12.5 | Medium |
| Colon | 10.3 | Medium |
| Appendix | 9.8 | Medium |
| Lymph Node | 6.2 | Low |
| Spleen | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 0.5 | Low baseline; inducible by TNF-alpha |
| Caco-2 (colorectal adenocarcinoma) | 0.2 | Not expressed |
| Jurkat (T-cell leukemia) | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown significance; rare population variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • integrin binding |
| • immunoglobulin domain | • leukocyte migration |
| • lymphocyte homing | • protein homodimerization activity |
Pathways
• Cell adhesion molecules (CAMs) - KEGG hsa04514
• Integrin signaling pathway
• Lymphocyte trafficking
Protein Summary
MADCAM1 is a type I transmembrane glycoprotein with three immunoglobulin-like domains (two C2-type and one V-type) and a mucin-like domain. It binds integrin alpha4beta7 (LPAM-1) on lymphocytes, mediating rolling and firm adhesion under flow. The protein is heavily O-glycosylated in the mucin domain, which extends the molecule from the endothelial surface. Soluble isoforms may regulate adhesion by competing with membrane-bound forms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MADCAM1 Knockout HEK293 Cell Line | EDJ-KQ6181 | Human | 8174 | Details Get a Quote |
| MADCAM1 Knockout HeLa Cell Line | EDJ-KQ54829 | Human | 8174 | Details Get a Quote |
| MADCAM1 Knockout A-549 Cell Line | EDJ-KQ63320 | Human | 8174 | Details Get a Quote |
| MADCAM1 Knockout HCT 116 Cell Line | EDJ-KQ71790 | Human | 8174 | Details Get a Quote |
