ITGB1BP1 Gene - Integrin Subunit Beta 1 Binding Protein 1
Key regulator of integrin signaling and cell adhesion
Gene Information Card
| Symbol | ITGB1BP1 |
|---|---|
| Full Name | Integrin Subunit Beta 1 Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 9270 ncbi.nlm.nih.gov/gene/9270 |
| Ensembl ID | ENSG00000119121 |
| UniProt ID | O14713 |
| OMIM ID | 607153 |
| HGNC ID | 6149 |
| Aliases | ICAP-1, ICAP1, ITGB1BP1 |
Description
ITGB1BP1 (Integrin Subunit Beta 1 Binding Protein 1) is a protein-coding gene that encodes a cytoplasmic protein which binds to the cytoplasmic tail of integrin beta 1. This interaction regulates integrin activation and cell adhesion. The protein is involved in focal adhesion dynamics and may play a role in cell migration and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoporosis | ITGB1BP1 modulates integrin signaling in osteoblasts, affecting bone density; variants may alter bone remodeling | PMID: 15616553 |
| Cancer (breast, colon) | Altered ITGB1BP1 expression affects integrin-mediated adhesion and metastasis | PMID: 19351801 |
| Cardiovascular disease | ITGB1BP1 influences endothelial cell adhesion and vascular integrity | PMID: 21917921 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.2 | Low |
| Kidney | 15.1 | Medium |
| Brain | 9.4 | Low |
| Testis | 18.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HEK 293 | 11.2 | Embryonic kidney cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| A549 | 7.3 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown; predicted benign |
| c.482G>A (p.Arg161Gln) | Missense | <0.01% | Unknown; predicted possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; no confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • integrin binding (GO:0005178) | • protein binding (GO:0005515) |
| • focal adhesion (GO:0005925) | • cell-matrix adhesion (GO:0007160) |
| • regulation of integrin activation (GO:0033627) |
Pathways
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
The ITGB1BP1 protein (also known as ICAP-1) is a 200-amino-acid cytoplasmic protein that binds specifically to the integrin beta 1 subunit. It regulates integrin activation by competing with talin for binding to the beta 1 cytoplasmic tail. This protein is involved in cell adhesion, migration, and spreading. It is expressed in multiple tissues and is implicated in bone remodeling and cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGB1BP1 Knockout HEK293 Cell Line | EDJ-KQ6529 | Human | 9270 | 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 |
