BDKRB1 Gene (Protein Coding)

Bradykinin Receptor B1

GC14P096269
GIFtS:
43
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... See more...

Aliases for BDKRB1 Gene

Aliases for BDKRB1 Gene

  • Bradykinin Receptor B1 2 3 5
  • B1 Bradykinin Receptor 3 4
  • BK-1 Receptor 3 4
  • BRADYB1 3 4
  • B1BKR 2 3
  • BKR1 2 3
  • B1R 3 4
  • Bradykinin B1 Receptor 3
  • Bradykinin Receptor 1 3
  • Bradyb1 2
  • BDKRB1 5
  • BKB1R 3

External Ids for BDKRB1 Gene

Previous GeneCards Identifiers for BDKRB1 Gene

  • GC14P094233
  • GC14P090539
  • GC14P094712
  • GC14P095792
  • GC14P096722
  • GC14P076907
  • GC14P096255
  • GC14P096257
  • GC14P096260
  • GC14P096263
  • GC14P096266

Summaries for BDKRB1 Gene

Entrez Gene Summary for BDKRB1 Gene

  • 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]

GeneCards Summary for BDKRB1 Gene

BDKRB1 (Bradykinin Receptor B1) is a Protein Coding gene. Diseases associated with BDKRB1 include C1 Inhibitor Deficiency and End Stage Renal Disease. Among its related pathways are Complement and coagulation cascades and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and bradykinin receptor activity. An important paralog of this gene is BDKRB2.

UniProtKB/Swiss-Prot Summary for BDKRB1 Gene

  • This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation.

Tocris Summary for BDKRB1 Gene

  • Bradykinin and related kinins are a family of small peptides which act as mediators of pain and inflammation. They exert a variety of biological effects on the endothelium and peripheral circulation through their action on two bradykinin receptor subtypes: B1 and B2.

Gene Wiki entry for BDKRB1 Gene

Additional gene information for BDKRB1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BDKRB1 Gene

Genomics for BDKRB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BDKRB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BDKRB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BDKRB1

Top Transcription factor binding sites by QIAGEN in the BDKRB1 gene promoter:
  • Bach2
  • E47
  • HOXA5
  • Nkx2-5
  • p300
  • SEF-1 (1)
  • XBP-1

Genomic Locations for BDKRB1 Gene

Latest Assembly
chr14:96,256,210-96,268,967
(GRCh38/hg38)
Size:
12,758 bases
Orientation:
Plus strand

Previous Assembly
chr14:96,722,547-96,731,100
(GRCh37/hg19 by Entrez Gene)
Size:
8,554 bases
Orientation:
Plus strand

chr14:96,722,161-96,735,304
(GRCh37/hg19 by Ensembl)
Size:
13,144 bases
Orientation:
Plus strand

Genomic View for BDKRB1 Gene

Genes around BDKRB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BDKRB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BDKRB1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BDKRB1 Gene

Proteins for BDKRB1 Gene

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  • Protein details for BDKRB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46663-BKRB1_HUMAN
    Recommended name:
    B1 bradykinin receptor
    Protein Accession:
    P46663
    Secondary Accessions:
    • A8K7F5
    • Q546S7
    • Q8N0Y8

    Protein attributes for BDKRB1 Gene

    Size:
    353 amino acids
    Molecular mass:
    40495 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BDKRB1 Gene

Post-translational modifications for BDKRB1 Gene

  • Glycosylation at Asn14, Asn22, and Asn185
  • Modification sites at PhosphoSitePlus

Other Protein References for BDKRB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BDKRB1 Gene

Domains & Families for BDKRB1 Gene

Gene Families for BDKRB1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins

Protein Domains for BDKRB1 Gene

InterPro:
Blocks:
  • Bradykinin receptor signature
  • B1 bradykinin receptor signature

Suggested Antigen Peptide Sequences for BDKRB1 Gene

GenScript: Design optimal peptide antigens:
  • B1 bradykinin receptor (BKRB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P46663

UniProtKB/Swiss-Prot:

BKRB1_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Bradykinin receptor subfamily. BDKRB1 sub-subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. Bradykinin receptor subfamily. BDKRB1 sub-subfamily.
genes like me logo Genes that share domains with BDKRB1: view

Function for BDKRB1 Gene

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Molecular function for BDKRB1 Gene

UniProtKB/Swiss-Prot Function:
This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation.
GENATLAS Biochemistry:
bradykinin B1 receptor,selectively sensible to fragments of kinins,lacking the Cter Arg,G protein coupled receptor superfamily,putatively exercying protective role in the end stage renal disease (ESRD)

Phenotypes From GWAS Catalog for BDKRB1 Gene

Gene Ontology (GO) - Molecular Function for BDKRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IBA 21873635
GO:0004947 bradykinin receptor activity TAS,IBA 21873635
GO:0005515 protein binding IPI 23597562
GO:0042277 peptide binding IEA --
genes like me logo Genes that share ontologies with BDKRB1: view
genes like me logo Genes that share phenotypes with BDKRB1: view

Animal Models for BDKRB1 Gene

MGI Knock Outs for BDKRB1:

Animal Models for research

miRNA for BDKRB1 Gene

miRTarBase miRNAs that target BDKRB1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BDKRB1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BDKRB1 Gene

Localization for BDKRB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BDKRB1 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BDKRB1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for BDKRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum TAS 9930991
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8063797
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BDKRB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BDKRB1 Gene

Pathways & Interactions for BDKRB1 Gene

genes like me logo Genes that share pathways with BDKRB1: view

SIGNOR curated interactions for BDKRB1 Gene

Activates:

Gene Ontology (GO) - Biological Process for BDKRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0002687 positive regulation of leukocyte migration IEA --
GO:0006954 inflammatory response IEA --
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with BDKRB1: view

Drugs & Compounds for BDKRB1 Gene

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(63) Drugs for BDKRB1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Icatibant Approved, Investigational Pharma Antagonist 23
Captopril Approved Pharma Target ACE inhibitor, ACE inhibitor; also inhibits LTA4 hydrolase 55
Enalaprilat Approved Pharma Target 146
Ramipril Approved Pharma Target 173
Zinc Approved, Investigational Pharma Target 1706

(7) Additional Compounds for BDKRB1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[Des-Arg9]-Bradykinin
15958-92-6

(5) Tocris Compounds for BDKRB1 Gene

Compound Action Cas Number
[Des-Arg9]-Bradykinin Bradykinin receptor agonist (B1 > B2) 15958-92-6
Bombinakinin M Potent bradykinin receptor agonist 509151-65-9
Bradykinin Endogenous agonist at bradykinin receptors (B2 > B1) 58-82-2
Lys-[Des-Arg9]Bradykinin Selective B1 agonist 71800-36-7
Lys-Bradykinin Potent bradykinin receptor agonist (B2 > B1) 342-10-9

(11) ApexBio Compounds for BDKRB1 Gene

Compound Action Cas Number
[Phe8Ψ(CH-NH)-Arg9]-Bradykinin 118122-39-7
Bombinakinin M 509151-65-9
Bombinakinin-GAP 573671-91-7
ELN441958 Potent and selective bradykinin B1 receptor antagonist 913064-47-8
HOE 140 130308-48-4
Lys-[Des-Arg9]Bradykinin 71800-36-7
Lys-Bradykinin 342-10-9
MEN 11270 235082-52-7
R 715 185052-09-9
R 892 229030-05-1
Sar-[D-Phe8]-des-Arg9-Bradykinin 126959-88-4
genes like me logo Genes that share compounds with BDKRB1: view

Drug products for research

Transcripts for BDKRB1 Gene

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mRNA/cDNA for BDKRB1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BDKRB1

Alternative Splicing Database (ASD) splice patterns (SP) for BDKRB1 Gene

No ASD Table

Relevant External Links for BDKRB1 Gene

GeneLoc Exon Structure for
BDKRB1

Expression for BDKRB1 Gene

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  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BDKRB1 Gene

mRNA expression in normal human tissues for BDKRB1 Gene
mRNA expression by BioGPS for BDKRB1 GenemRNA expression by GTEx for BDKRB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BDKRB1 Gene

This gene is overexpressed in Pancreas (x9.8), Esophagus - Mucosa (x5.5), and Testis (x4.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BDKRB1

SOURCE GeneReport for Unigene cluster for BDKRB1 Gene:

Hs.525572

Evidence on tissue expression from TISSUES for BDKRB1 Gene

  • Lung(4.4)
  • Skin(4.4)
  • Nervous system(2.1)
  • Kidney(2)
  • Liver(2)
genes like me logo Genes that share expression patterns with BDKRB1: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BDKRB1 Gene

Orthologs for BDKRB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BDKRB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia BDKRB1 29 30
  • 99.43 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BDKRB1 29 30
  • 81.58 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BDKRB1 29 30
  • 80.65 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Bdkrb1 29 16 30
  • 79.34 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Bdkrb1 29
  • 78.38 (n)
Oppossum
(Monodelphis domestica)
 Mammalia BDKRB1 30
  • 62 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia BDKRB1 30
  • 55 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves BDKRB1 29 30
  • 55.1 (n)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii bdkrb1 30
  • 33 (a)
 OneToOne
Species where no ortholog for BDKRB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for BDKRB1 Gene

ENSEMBL:
Gene Tree for BDKRB1 (if available)
TreeFam:
Gene Tree for BDKRB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BDKRB1: view image
Alliance of Genome Resources:
Additional Orthologs for BDKRB1

Paralogs for BDKRB1 Gene

Paralogs for BDKRB1 Gene

(31) SIMAP similar genes for BDKRB1 Gene using alignment to 2 proteins:

  • BKRB1_HUMAN
  • G3V4Y2_HUMAN
genes like me logo Genes that share paralogs with BDKRB1: view

Variants for BDKRB1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BDKRB1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs576380894 Likely Benign: not provided 96,264,610(+) G/C
NM_000710.4(BDKRB1):c.928G>C (p.Val310Leu) 		MISSENSE
rs2229459 -- p.Ala250Val
rs8004609 -- p.Arg317Gln

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BDKRB1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BDKRB1 Gene

Variant ID Type Subtype PubMed ID
esv3635420 CNV gain 21293372
nsv565648 CNV loss 21841781

Variation tolerance for BDKRB1 Gene

Residual Variation Intolerance Score: 95.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.63; 45.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BDKRB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BDKRB1
Leiden Open Variation Database (LOVD)
BDKRB1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BDKRB1 Gene

Disorders for BDKRB1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for BDKRB1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
c1 inhibitor deficiency
  • quincke edema
end stage renal disease
  • end stage renal failure
obstructive nephropathy
  • con
erysipelas
angioedema
  • angioneurotic edema
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BDKRB1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BDKRB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BDKRB1 Gene

Publications for BDKRB1 Gene

  1. A synergistic association of ACE I/D and eNOS G894T gene variants with the progression of immunoglobulin A nephropathy - a pilot study. (PMID: 19546528) Rodríguez-Pérez JC … Torres A (American journal of nephrology 2009) 3 22 40
  2. Sequence variation of bradykinin receptors B1 and B2 and association with hypertension. (PMID: 15643125) Cui J … Gavras H (Journal of hypertension 2005) 3 22 40
  3. Polymorphic genes for kinin receptors, nephropathy and blood pressure in type 2 diabetic patients. (PMID: 12481150) Zychma MJ … Grzeszczak W (American journal of nephrology 2003) 3 22 40
  4. Variation in bradykinin receptor genes increases the cardiovascular risk associated with hypertension. (PMID: 14499231) Dhamrait SS … Montgomery HE (European heart journal 2003) 3 22 40
  5. Molecular characterisation of cloned bradykinin B1 receptors from rat and human. (PMID: 10422787) Jones C … McIntyre P (European journal of pharmacology 1999) 3 4 22

ExternalLinks

View latest publications for BDKRB1 gene in Mastermind

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