BDKRB1
Bradykinin Receptor B1
Gene Information Card
| Symbol | BDKRB1 |
|---|---|
| Full Name | Bradykinin Receptor B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.2 |
| NCBI Gene ID | 623 ncbi.nlm.nih.gov/gene/623 |
| Ensembl ID | ENSG00000100839 |
| UniProt ID | P46663 |
| OMIM ID | 600523 |
| HGNC ID | 1029 |
| Aliases | B1R, BKRB1, BDKRB1 |
Description
BDKRB1 encodes the bradykinin receptor B1, a G protein-coupled receptor that binds bradykinin and related kinins. It is induced by tissue injury and inflammation, mediating pain, vasodilation, and leukocyte trafficking. The receptor is involved in acute and chronic inflammatory responses, and its expression is upregulated by cytokines and growth factors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Angioedema | BDKRB1 activation contributes to bradykinin-mediated vascular permeability | ClinVar, OMIM |
| Chronic Pain (Inflammatory) | Receptor upregulation in sensory neurons enhances nociception | NCBI, PubMed |
| Sepsis | BDKRB1 induction amplifies hypotension and inflammation | UniProt, PubMed |
| Rheumatoid Arthritis | Increased B1 receptor expression in synovial tissue promotes joint inflammation | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose Tissue | 0.5 | Low |
| Lung | 1.2 | Low |
| Spleen | 0.8 | Low |
| Peripheral Blood Mononuclear Cells | 2.1 | Medium |
| Spinal Cord | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.0 | Not expressed |
| THP-1 (monocytes) | 3.5 | Induced by LPS |
| A549 (lung epithelial) | 1.8 | Low baseline |
| HUVEC (endothelial) | 4.2 | Upregulated by IL-1β |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.181C>T (p.Arg61Cys) | Missense | <0.01% | Unknown functional impact |
| c.578G>A (p.Arg193His) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants described.
View complete mutation data:
Gene Ontology (GO)
| • G protein-coupled receptor activity | • bradykinin receptor activity |
| • inflammatory response | • positive regulation of vasodilation |
| • cell surface receptor signaling pathway |
Pathways
• Kinin signaling pathway
• GPCR downstream signaling
• Inflammatory mediator regulation of TRP channels
Protein Summary
The bradykinin receptor B1 is a 353-amino acid transmembrane protein belonging to the rhodopsin-like GPCR family. It is constitutively internalized and recycled, and its signaling is primarily mediated through Gq/11 proteins, leading to phospholipase C activation, calcium mobilization, and MAPK pathway stimulation. Unlike B2 receptor, B1 is not constitutively expressed but is induced under inflammatory conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BDKRB1 Knockout HEK293 Cell Line | EDJ-KQ50153 | Human | 623 | Details Get a Quote |
| BDKRB1 Knockout HeLa Cell Line | EDJ-KQ52715 | Human | 623 | Details Get a Quote |
| BDKRB1 Knockout A-549 Cell Line | EDJ-KQ61186 | Human | 623 | Details Get a Quote |
| BDKRB1 Knockout HCT 116 Cell Line | EDJ-KQ69677 | Human | 623 | Details Get a Quote |