BDKRB1 bradykinin receptor B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BDKRB1provided by HGNC
Official Full Name: bradykinin receptor B1provided by HGNC
Primary source: HGNC:HGNC:1029
See related: Ensembl:ENSG00000100739 MIM:600337; AllianceGenome:HGNC:1029
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: B1R; BKR1; B1BKR; BKB1R; BRADYB1
Summary: Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. The protein encoded by this gene belongs to the G-protein coupled receptor 1 family. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. [provided by RefSeq, Aug 2020]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Expression: Biased expression in gall bladder (RPKM 7.4), urinary bladder (RPKM 5.2) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (96256210..96264763)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (90487459..90496013)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (96722547..96731100)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bradykinin-bradykinin receptor (B1R) signalling is involved in the blood-brain barrier disruption in moyamoya disease.
Title: Bradykinin-bradykinin receptor (B1R) signalling is involved in the blood-brain barrier disruption in moyamoya disease.
Bradykinin receptor expression and bradykinin-mediated sensitization of human sensory neurons.
Title: Bradykinin receptor expression and bradykinin-mediated sensitization of human sensory neurons.
The Role of Bradykinin Receptors in Hereditary Angioedema Due to C1-Inhibitor Deficiency.
Title: The Role of Bradykinin Receptors in Hereditary Angioedema Due to C1-Inhibitor Deficiency.
Correlation of matrix-related airway remodeling and bradykinin B1 receptor expression with fixed airflow obstruction in severe asthma.
Title: Correlation of matrix-related airway remodeling and bradykinin B1 receptor expression with fixed airflow obstruction in severe asthma.
Kinin B1 receptor: A target for neuroinflammation in hypertension.
Title: Kinin B1 receptor: A target for neuroinflammation in hypertension.
The G Allele of the rs12050217 Polymorphism in the BDKRB1 Gene Is Associated with Protection for Diabetic Retinopathy.
Title: The G Allele of the rs12050217 Polymorphism in the BDKRB1 Gene Is Associated with Protection for Diabetic Retinopathy.
Our work shows for the first time that the interaction between CPM and kinin B1 receptor alters not only B1R pharmacology, but also modulates enzyme expression and activity.
Title: Interactions between carboxypeptidase M and kinin B1 receptor in endothelial cells.
the putative mechanisms underlying the anticancer activities of cell-penetrant B1R antagonists were assessed by analyzing cell cycle regulation and signaling molecules related to cell survival and apoptosis
Title: Antitumor activity of cell-penetrant kinin B1 receptor antagonists in human triple-negative breast cancer cells.
There is a divergence in BKR1 gene expression in subcutaneous white adipose tissue between patients with and without coronary artery disease and is associated with metabolic parameters.
Title: Bradykinin receptors gene expression in white adipose tissue in nondiabetic patients with coronary artery disease.
Results indicate that interaction of phosphorylated-STAT3 and acetylated-SP-1 modulates IL-8 expression-mediated glioblastoma migration. The present study also indicates that B1R and the phosphorylated-STAT3/acetylated-SP-1 signaling pathways could serve as therapeutic targets for developing a novel glioblastoma therapy.
Title: Bradykinin B1 receptor contributes to interleukin-8 production and glioblastoma migration through interaction of STAT3 and SP-1.

Submit: New GeneRIF Correction See all GeneRIFs (85)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BDKRB1 (e-PCR)
- UniSTS:480428

RH17999 (e-PCR)
- UniSTS:6592

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables bradykinin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables bradykinin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell migration	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytosolic calcium ion concentration	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of leukocyte migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of release of sequestered calcium ion into cytosol	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to mechanical stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: B1 bradykinin receptor

Names: BK-1 receptor; bradykinin B1 receptor; bradykinin receptor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_000710.4 → NP_000701.2 B1 bradykinin receptor

See identical proteins and their annotated locations for NP_000701.2

Status: REVIEWED

Source sequence(s)

AJ238044, AL355102, CB130642

Consensus CDS

CCDS9943.1

UniProtKB/Swiss-Prot

A8K7F5, P46663, Q546S7, Q8N0Y8

UniProtKB/TrEMBL

A0A075E6Y0

Related

ENSP00000216629.6, ENST00000216629.11

Conserved Domains (1) summary

cd15380
Location:38 → 323

7tmA_BK-1; bradykinin receptor B1, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001386007.1 → NP_001372936.1 B1 bradykinin receptor

Status: REVIEWED

Source sequence(s)

AL355102

Consensus CDS

CCDS9943.1

UniProtKB/Swiss-Prot

A8K7F5, P46663, Q546S7, Q8N0Y8

UniProtKB/TrEMBL

A0A075E6Y0

Related

ENSP00000479276.1, ENST00000611804.1

Conserved Domains (1) summary

cd15380
Location:38 → 323

7tmA_BK-1; bradykinin receptor B1, member of the class A family of seven-transmembrane G protein-coupled receptors