ITGB1: Integrin Subunit Beta 1
A key cell adhesion receptor involved in development, immunity, and cancer progression
Gene Information Card
| Symbol | ITGB1 |
|---|---|
| Full Name | Integrin Subunit Beta 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p11.22 |
| NCBI Gene ID | 3688 ncbi.nlm.nih.gov/gene/3688 |
| Ensembl ID | ENSG00000150093 |
| UniProt ID | P05556 |
| OMIM ID | 135630 |
| HGNC ID | 6153 |
| Aliases | CD29, FNRB, MDF2, MSK12, VLA-BETA |
Description
ITGB1 encodes integrin beta 1, a transmembrane receptor subunit that pairs with multiple alpha subunits to form integrin heterodimers. These complexes mediate cell–cell and cell–extracellular matrix adhesion, signal transduction, and regulate processes such as embryonic development, immune response, wound healing, and tumor metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epidermolysis Bullosa with Pyloric Atresia | Loss-of-function mutations in ITGB1 disrupt integrin-mediated adhesion in skin and gastrointestinal epithelium, leading to blistering and obstruction. | ClinVar, OMIM #135630 |
| Leukocyte Adhesion Deficiency Type I | Defective ITGB1 impairs leukocyte adhesion and migration, increasing susceptibility to infections. | OMIM #116920 |
| Cancer (multiple types) | Altered ITGB1 expression and mutations promote tumor cell invasion, metastasis, and therapy resistance via integrin signaling. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 58.2 | High |
| Liver | 42.1 | High |
| Kidney | 36.8 | High |
| Heart | 22.5 | Medium |
| Brain | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 62.4 | High expression |
| HepG2 (hepatocellular carcinoma) | 48.7 | High expression |
| HEK293 (embryonic kidney) | 35.1 | Medium expression |
| MCF7 (breast adenocarcinoma) | 28.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.752G>A (p.Arg251Gln) | Missense | 0.01% | Reduced ligand binding; associated with epidermolysis bullosa |
| c.1760C>T (p.Thr587Met) | Missense | 0.005% | Altered integrin activation; reported in cancer |
| c.2230_2232del (p.Glu744del) | In-frame deletion | <0.001% | Loss of function; linked to leukocyte adhesion deficiency |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that impair integrin heterodimer formation or ligand binding, leading to adhesion defects and disease.
Gain of Function (GOF)
Rare activating mutations that enhance integrin signaling, potentially promoting cancer cell migration and invasion.
Dominant Negative (DN)
Mutations that produce non-functional beta 1 subunits, disrupting wild-type integrin function and causing dominant phenotypes.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • integrin-mediated signaling pathway (GO:0007229) |
| • extracellular matrix binding (GO:0050840) | • receptor complex (GO:0043235) |
| • cell-matrix adhesion (GO:0007160) |
Pathways
• Integrin signaling pathway (KEGG hsa04510)
• Focal adhesion (KEGG hsa04510)
• ECM-receptor interaction (KEGG hsa04512)
• PI3K-Akt signaling pathway (KEGG hsa04151)
Protein Summary
Integrin beta 1 (UniProt P05556) is a 798-amino-acid type I transmembrane protein with a large extracellular domain, a single transmembrane helix, and a short cytoplasmic tail. It forms heterodimers with alpha integrins (e.g., ITGA2, ITGA5, ITGAV) to mediate adhesion to fibronectin, collagen, and laminin. The cytoplasmic domain interacts with talin and kindlin to regulate integrin activation and inside-out signaling. Post-translational modifications include N-glycosylation and phosphorylation, modulating stability and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGB1 Knockout Hep-G2 Cell Line | EDJ-KQ37 | Human | 3688 | Details Get a Quote |
| ITGB1 Knockout HEK293 Cell Line | EDJ-KQ817 | Human | 3688 | Details Get a Quote |
| ITGB1BP1 Knockout HEK293 Cell Line | EDJ-KQ6529 | Human | 9270 | Details Get a Quote |
| ITGB1BP2 Knockout HEK293 Cell Line | EDJ-KQ8555 | Human | 26548 | Details Get a Quote |
| ITGB1 Knockout A-549 Cell Line | EDC07570 | Human | 3688 | Details Get a Quote |
| ITGB1 Knockout HCT 116 Cell Line | EDJ-KQ19568 | Human | 3688 | Details Get a Quote |
| ITGB1 Knockout HeLa Cell Line | EDJ-KQ19569 | Human | 3688 | Details Get a Quote |
| ITGB1BP1 Knockout A-549 Cell Line | EDJ-KQ30691 | Human | 9270 | Details Get a Quote |
| ITGB1BP1 Knockout HCT 116 Cell Line | EDJ-KQ30692 | Human | 9270 | Details Get a Quote |
| ITGB1BP1 Knockout HeLa Cell Line | EDJ-KQ30693 | Human | 9270 | Details Get a Quote |
| ITGB1BP2 Knockout A-549 Cell Line | EDJ-KQ34699 | Human | 26548 | Details Get a Quote |
| ITGB1BP2 Knockout HCT 116 Cell Line | EDJ-KQ34700 | Human | 26548 | Details Get a Quote |
| ITGB1BP2 Knockout HeLa Cell Line | EDJ-KQ34701 | Human | 26548 | Details Get a Quote |
| ITGB1 Knockout Caco-2 Cell Line | EDC90124 | Human | 3688 | Details Get a Quote |
Displaying Records 1 To 14 Of 14 Records
