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Aliases for KLKB1 Gene

Aliases for KLKB1 Gene

  • Kallikrein B1 2 3 5
  • Kallikrein B, Plasma (Fletcher Factor) 1 2 3
  • Plasma Prekallikrein 3 4
  • Fletcher Factor 2 4
  • Kininogenin 3 4
  • KLK3 3 4
  • PKK 3 4
  • Plasma Kallikrein 3
  • EC 3.4.21.34 4
  • PKKD 3
  • PPK 3

External Ids for KLKB1 Gene

Previous HGNC Symbols for KLKB1 Gene

  • KLK3

Previous GeneCards Identifiers for KLKB1 Gene

  • GC04P188183
  • GC04P187828
  • GC04P187733
  • GC04P187844
  • GC04P187523
  • GC04P187385
  • GC04P187147
  • GC04P182900
  • GC04P187130

Summaries for KLKB1 Gene

Entrez Gene Summary for KLKB1 Gene

  • This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

GeneCards Summary for KLKB1 Gene

KLKB1 (Kallikrein B1) is a Protein Coding gene. Diseases associated with KLKB1 include Prekallikrein Deficiency and Malignant Essential Hypertension. Among its related pathways are Complement and coagulation cascades and Formation of Fibrin Clot (Clotting Cascade). Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and heme binding. An important paralog of this gene is F11.

UniProtKB/Swiss-Prot for KLKB1 Gene

  • The enzyme cleaves Lys-Arg and Arg-Ser bonds. It activates, in a reciprocal reaction, factor XII after its binding to a negatively charged surface. It also releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin.

Gene Wiki entry for KLKB1 Gene

Additional gene information for KLKB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLKB1 Gene

Genomics for KLKB1 Gene

GeneHancer (GH) Regulatory Elements for KLKB1 Gene

Promoters and enhancers for KLKB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J186227 Promoter 1.1 EPDnew 650.4 +18.5 18520 0.1 SOX13 IRF2 TFAP4 FOXA2 NFIB SAP130 MAX RAD21 RARA YY1 KLKB1 GC04M186242
GH04J186209 Promoter 0.5 EPDnew 650.7 +0.2 223 0.1 KLKB1 CYP4V2 GC04M186242
GH04J186189 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 28.1 -17.7 -17651 4.4 ARID4B SIN3A ZNF2 YY1 POLR2B ZNF213 E2F8 ZNF207 ZNF143 KLF13 CYP4V2 FLJ38576 FAM149A KLKB1 SNX25 ORAOV1P1
GH04J186246 Enhancer 1.1 Ensembl ENCODE dbSUPER 15.4 +40.3 40321 6.6 SOX13 TAF1 MAX YY1 POLR2A FOS EGR2 RXRA NANOG HLF KLKB1 CYP4V2 F11 GC04M186242
GH04J186203 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 5.6 -4.3 -4250 3.2 ATF1 ZNF335 TCF12 EGR1 ZNF366 SCRT2 ATF7 CREM EGR2 SP3 CYP4V2 KLKB1 FLJ38576
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLKB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLKB1 gene promoter:
  • FOXL1
  • C/EBPalpha
  • AML1a
  • aMEF-2
  • MEF-2A
  • MEF-2
  • TBP
  • HFH-1
  • SRY

Genomic Locations for KLKB1 Gene

Genomic Locations for KLKB1 Gene
chr4:186,208,979-186,258,474
(GRCh38/hg38)
Size:
49,496 bases
Orientation:
Plus strand
chr4:187,130,133-187,179,625
(GRCh37/hg19)
Size:
49,493 bases
Orientation:
Plus strand

Genomic View for KLKB1 Gene

Genes around KLKB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLKB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLKB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLKB1 Gene

Proteins for KLKB1 Gene

  • Protein details for KLKB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P03952-KLKB1_HUMAN
    Recommended name:
    Plasma kallikrein
    Protein Accession:
    P03952
    Secondary Accessions:
    • A6NH96
    • B2R8H9
    • Q17RE8
    • Q17RE9
    • Q4W5C3

    Protein attributes for KLKB1 Gene

    Size:
    638 amino acids
    Molecular mass:
    71370 Da
    Quaternary structure:
    • Forms a heterodimer with SERPINA5. The zymogen is activated by factor XIIa, which cleaves the molecule into a light chain, which contains the active site, and a heavy chain, which associates with HMW kininogen. These chains are linked by one or more disulfide bonds.

    Three dimensional structures from OCA and Proteopedia for KLKB1 Gene

neXtProt entry for KLKB1 Gene

Post-translational modifications for KLKB1 Gene

  • Glycosylation at Asn494, Asn453, isoforms=396, Asn308, and Asn127
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • KLKB1_HUMAN (714)

No data available for DME Specific Peptides for KLKB1 Gene

Domains & Families for KLKB1 Gene

Gene Families for KLKB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for KLKB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P03952

UniProtKB/Swiss-Prot:

KLKB1_HUMAN :
  • Belongs to the peptidase S1 family. Plasma kallikrein subfamily.
Family:
  • Belongs to the peptidase S1 family. Plasma kallikrein subfamily.
genes like me logo Genes that share domains with KLKB1: view

Function for KLKB1 Gene

Molecular function for KLKB1 Gene

UniProtKB/Swiss-Prot Function:
The enzyme cleaves Lys-Arg and Arg-Ser bonds. It activates, in a reciprocal reaction, factor XII after its binding to a negatively charged surface. It also releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin.
UniProtKB/Swiss-Prot CatalyticActivity:
Cleaves selectively Arg- -Xaa and Lys- -Xaa bonds, including Lys- -Arg and Arg- -Ser bonds in (human) kininogen to release bradykinin.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by SERPINA5.
GENATLAS Biochemistry:
kallikrein B,85kDa,plasma (Fletcher factor),cleaving bonds in kininogen to produce bradykinin,activating coagulation factors F12 and F7,contact activation pathway

Enzyme Numbers (IUBMB) for KLKB1 Gene

Phenotypes From GWAS Catalog for KLKB1 Gene

Gene Ontology (GO) - Molecular Function for KLKB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS,IEA --
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IEA,IPI 2844223
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with KLKB1: view
genes like me logo Genes that share phenotypes with KLKB1: view

Human Phenotype Ontology for KLKB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KLKB1 Gene

MGI Knock Outs for KLKB1:

Animal Model Products

  • Taconic Biosciences Mouse Models for KLKB1

miRNA for KLKB1 Gene

miRTarBase miRNAs that target KLKB1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for KLKB1 Gene

Localization for KLKB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLKB1 Gene

Secreted.

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 KLKB1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for KLKB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IDA 89876
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with KLKB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KLKB1 Gene

Pathways & Interactions for KLKB1 Gene

genes like me logo Genes that share pathways with KLKB1: view

Pathways by source for KLKB1 Gene

Gene Ontology (GO) - Biological Process for KLKB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002542 Factor XII activation TAS 2510163
GO:0006508 proteolysis IEA,TAS 1993180
GO:0006954 inflammatory response IEA --
GO:0007596 blood coagulation IEA --
GO:0007597 blood coagulation, intrinsic pathway TAS,IEA --
genes like me logo Genes that share ontologies with KLKB1: view

No data available for SIGNOR curated interactions for KLKB1 Gene

Drugs & Compounds for KLKB1 Gene

(14) Drugs for KLKB1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Conestat alfa Approved, Investigational Pharma Target, inhibitor 0
Ecallantide Approved, Investigational Pharma Target, inhibitor 0
Human C1-esterase inhibitor Approved Pharma Target, inhibitor 0
Zinc Approved, Investigational Pharma Target 2430
Gabexate Investigational Pharma Target, inhibitor 5

(6) Additional Compounds for KLKB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KLKB1: view

Transcripts for KLKB1 Gene

Unigene Clusters for KLKB1 Gene

Kallikrein B, plasma (Fletcher factor) 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLKB1 Gene

No ASD Table

Relevant External Links for KLKB1 Gene

GeneLoc Exon Structure for
KLKB1
ECgene alternative splicing isoforms for
KLKB1

Expression for KLKB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLKB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLKB1 Gene

This gene is overexpressed in Liver (x26.2).

Protein differential expression in normal tissues from HIPED for KLKB1 Gene

This gene is overexpressed in Plasma (21.4), Serum (18.2), and Synovial fluid (17.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLKB1 Gene



Protein tissue co-expression partners for KLKB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLKB1 Gene:

KLKB1

SOURCE GeneReport for Unigene cluster for KLKB1 Gene:

Hs.237642

Evidence on tissue expression from TISSUES for KLKB1 Gene

  • Liver(4.6)
  • Intestine(4.4)
  • Bone marrow(4)
  • Blood(3)
  • Heart(2.1)
  • Kidney(2.1)
  • Lung(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KLKB1 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Regions:
General:
  • blood
  • coagulation system
genes like me logo Genes that share expression patterns with KLKB1: view

No data available for mRNA Expression by UniProt/SwissProt for KLKB1 Gene

Orthologs for KLKB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLKB1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia KLKB1 34 33
  • 85.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KLKB1 34 33
  • 83.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Klkb1 16 34 33
  • 79.94 (n)
rat
(Rattus norvegicus)
Mammalia Klkb1 33
  • 79.26 (n)
oppossum
(Monodelphis domestica)
Mammalia KLKB1 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 57 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3355 35
  • 40 (a)
CG11192 35
  • 39 (a)
Sb 35
  • 39 (a)
CG6048 35
  • 38 (a)
CG4386 35
  • 38 (a)
CG4914 35
  • 38 (a)
mas 35
  • 37 (a)
CG9294 35
  • 37 (a)
CG18735 35
  • 37 (a)
&lgr;Try 35
  • 37 (a)
CG5246 35
  • 36 (a)
CG4613 35
  • 36 (a)
CG18065 35
  • 36 (a)
&zgr;Try 35
  • 36 (a)
CG11824 35
  • 35 (a)
CG10663 35
  • 35 (a)
CG4998 35
  • 35 (a)
&eegr;Try 35
  • 35 (a)
CG8213 35
  • 34 (a)
CG10472 35
  • 34 (a)
CG1299 35
  • 34 (a)
CG5390 35
  • 34 (a)
ndl 35
  • 34 (a)
CG6865 35
  • 33 (a)
CG13744 35
  • 33 (a)
CG7542 35
  • 32 (a)
CG30375 35
  • 31 (a)
CG30371 35
  • 31 (a)
CG9372 35
  • 30 (a)
Species where no ortholog for KLKB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • zebrafish (Danio rerio)

Evolution for KLKB1 Gene

ENSEMBL:
Gene Tree for KLKB1 (if available)
TreeFam:
Gene Tree for KLKB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLKB1: view image

Paralogs for KLKB1 Gene

genes like me logo Genes that share paralogs with KLKB1: view

Variants for KLKB1 Gene

Sequence variations from dbSNP and Humsavar for KLKB1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs121964949 pathogenic, Prekallikrein deficiency 186,236,789(+) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, upstream_transcript_variant
rs121964950 pathogenic, Prekallikrein deficiency 186,252,077(+) G/A coding_sequence_variant, stop_gained
rs121964951 pathogenic, uncertain-significance, Prekallikrein deficiency, not specified 186,257,283(+) G/A coding_sequence_variant, intron_variant, missense_variant
rs121964952 pathogenic, Prekallikrein deficiency 186,236,819(+) G/A/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, stop_gained, upstream_transcript_variant
rs186254196 likely-pathogenic, Prekallikrein deficiency 186,252,131(+) G/A/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for KLKB1 Gene

Variant ID Type Subtype PubMed ID
dgv186n6 CNV deletion 16902084
dgv9433n54 CNV gain 21841781
esv1184118 CNV deletion 17803354
esv2294811 CNV deletion 18987734
esv2348562 CNV deletion 18987734
esv24919 CNV loss 19812545
esv25841 CNV loss 19812545
esv2670775 CNV deletion 23128226
esv2728931 CNV deletion 23290073
esv2728932 CNV deletion 23290073
esv2728933 CNV deletion 23290073
esv2728934 CNV deletion 23290073
esv991336 CNV deletion 20482838
nsv1028146 CNV gain 25217958
nsv1146953 CNV duplication 26484159
nsv290547 CNV deletion 16902084
nsv461864 CNV gain 19166990
nsv596392 CNV gain 21841781
nsv596401 CNV loss 21841781
nsv596413 CNV gain 21841781
nsv596416 CNV loss 21841781
nsv830172 CNV loss 17160897

Variation tolerance for KLKB1 Gene

Residual Variation Intolerance Score: 91.3% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLKB1 Gene

Human Gene Mutation Database (HGMD)
KLKB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLKB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLKB1 Gene

Disorders for KLKB1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for KLKB1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
prekallikrein deficiency
  • pkk deficiency
malignant essential hypertension
  • accelerated essential hypertension
c1 inhibitor deficiency
  • quincke edema
hereditary angioedema
  • hane
angioedema
  • angioneurotic edema
- elite association - COSMIC cancer census association via MalaCards
Search KLKB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KLKB1_HUMAN
  • Prekallikrein deficiency (PKK deficiency) [MIM:612423]: This disorder is a blood coagulation defect. {ECO:0000269 PubMed:14652634, ECO:0000269 PubMed:17598838}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for KLKB1 Gene

Fletcher factor deficiency,without bleeding diathesis

Additional Disease Information for KLKB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KLKB1: view

Publications for KLKB1 Gene

  1. Genetic variants associated with deep vein thrombosis: the F11 locus. (PMID: 19583818) Li Y … Rosendaal FR (Journal of thrombosis and haemostasis : JTH 2009) 3 22 44 58
  2. Common variation in KLKB1 and essential hypertension risk: tagging-SNP haplotype analysis in a case-control study. (PMID: 17318641) Lu X … Gu D (Human genetics 2007) 3 22 44 58
  3. Genomic structure of the human plasma prekallikrein gene, identification of allelic variants, and analysis in end-stage renal disease. (PMID: 11031105) Yu H … Bowden DW (Genomics 2000) 3 4 22 58
  4. Identification of human plasma kallikrein gene polymorphisms and evaluation of their role in end-stage renal disease. (PMID: 9535413) Yu H … Freedman BI (Hypertension (Dallas, Tex. : 1979) 1998) 2 3 22 58
  5. Location of the disulfide bonds in human plasma prekallikrein: the presence of four novel apple domains in the amino-terminal portion of the molecule. (PMID: 1998666) McMullen BA … Davie EW (Biochemistry 1991) 3 4 22 58

Products for KLKB1 Gene

Sources for KLKB1 Gene

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