• Gene id: 623

Gene Summary

• Gene Symbol: BDKRB1   Gene   UCSC   Ensembl
• Aliases: B1BKR, B1R, BDKRB2, BKB1R, BKR1, BRADYB1
• Gene name: bradykinin receptor B1
• Alternate names: B1 bradykinin receptor, BK-1 receptor, bradykinin B1 receptor, bradykinin receptor 1, bradykinin receptor B2,
• Gene location: 14q32.2 (96256209: 96264762)     Exons: 3     NC_000014.9
• Gene summary(Entrez): Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic
• OMIM: 118509

SNPs

rs11467497

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.145515_145518CAAA[1]
NC_000020.10   g.126156_126159CAAA[1]
NM_030931.4   c.159_162CAAA[1]
NM_030931.3   c.159_162CAAA[1]
NP_112193.1   p.Gln55fs|SEQ=[CAAA/-]|GENE=DEFB126

rs140685149

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.145673_145674del
NC_000020.11   g.145674del
NC_000020.11   g.145674dup
NC_000020.10   g.126314_126315del
NC_000020.10   g.126315del
NC_000020.10   g.126315dup
NM_030931.4   c.317_318del
NM_030931.4   c.318del
NM_030931.4   c.318dup
NM_030931.3   c.317_3

Protein Summary

• Protein general information: P46663  
  • Name: B1 bradykinin receptor (B1R) (BK 1 receptor)
  • Length: 353  
  • Mass: 40495
• Sequence:

  MASSWPPLELQSSNQSQLFPQNATACDNAPEAWDLLHRVLPTFIISICFFGLLGNLFVLLVFLLPRRQLNVAEIY
  LANLAASDLVFVLGLPFWAENIWNQFNWPFGALLCRVINGVIKANLFISIFLVVAISQDRYRVLVHPMASRRQQR
  RRQARVTCVLIWVVGGLLSIPTFLLRSIQAVPDLNITACILLLPHEAWHFARIVELNILGFLLPLAAIVFFNYHI
  LASLRTREEVSRTRCGGRKDSKTTALILTLVVAFLVCWAPYHFFAFLEFLFQVQAVRGCFWEDFIDLGLQLANFF
  AFTNSSLNPVIYVFVGRLFRTKVWELYKQCTPKSLAPISSSHRKEIFQLFWRN

• Structural information:
  • Interpro: IPR001186  IPR000496  IPR000276  IPR017452  
  • Prosite: PS50262
  • STRING: ENSP00000216629
• Other Databases: GeneCards:  BDKRB1  Malacards:  BDKRB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004947	bradykinin receptor activity	IBA	molecular function
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IBA	biological process
GO:0004947	bradykinin receptor activity	IEA	molecular function
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0006954	inflammatory response	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0004947	bradykinin receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007204	positive regulation of cytosolic calcium ion concentration	TAS	biological process
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045776	negative regulation of blood pressure	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0030308	negative regulation of cell growth	IEA	biological process
GO:0016477	cell migration	IEA	biological process
GO:0007205	protein kinase C-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0004947	bradykinin receptor activity	IEA	molecular function
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol	IEA	biological process
GO:0042277	peptide binding	IEA	molecular function
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0019233	sensory perception of pain	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0002687	positive regulation of leukocyte migration	IEA	biological process
GO:0042277	peptide binding	IEA	molecular function
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04080	Neuroactive ligand-receptor interaction
hsa04810	Regulation of actin cytoskeleton
hsa04020	Calcium signaling pathway
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Hypertension	PMID:15643125
Pulmonary fibrosis	PMID:20451601
Diabetic retinopathy	PMID:18311190
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray