Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KLKB1 Gene

Aliases for KLKB1 Gene

  • Kallikrein B, Plasma (Fletcher Factor) 1 2 3
  • Plasma Prekallikrein 3 4
  • Fletcher Factor 3 4
  • Kininogenin 3 4
  • KLK3 3 4
  • PKK 3 4
  • Plasma Kallikrein Heavy Chain 3
  • Plasma Kallikrein Light Chain 3
  • EC 3.4.21.34 4
  • EC 3.4.21 63
  • 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

  • Plasma prekallikrein is a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. It is synthesized in the liver and secreted into the blood as a single polypeptide chain. Plasma prekallikrein is converted to plasma kallikrein by factor XIIa by the cleavage of an internal Arg-Ile bond. Plasma kallikrein therefore is composed of a heavy chain and a light chain held together by a disulphide bond. The heavy chain originates from the amino-terminal end of the zymogen and contains 4 tandem repeats of 90 or 91 amino acids. Each repeat harbors a novel structure called the apple domain. The heavy chain is required for the surface-dependent pro-coagulant activity of plasma kallikrein. The light chain contains the active site or catalytic domain of the enzyme and is homologous to the trypsin family of serine proteases. Plasma prekallikrein deficiency causes a prolonged activated partial thromboplastin time in patients. [provided by RefSeq, Jul 2008]

GeneCards Summary for KLKB1 Gene

KLKB1 (Kallikrein B, Plasma (Fletcher Factor) 1) is a Protein Coding gene. Diseases associated with KLKB1 include prekallikrein deficiency, congenital and fletcher factor deficiency. Among its related pathways are Signaling by GPCR and Pathways in cancer. GO annotations related to this gene include serine-type endopeptidase activity and heme binding. An important paralog of this gene is HPN.

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

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

Genomics for KLKB1 Gene

Regulatory Elements for KLKB1 Gene

Genomic Location for KLKB1 Gene

Chromosome:
4
Start:
186,208,979 bp from pter
End:
186,258,474 bp from pter
Size:
49,496 bases
Orientation:
Plus strand

Genomic View for KLKB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for KLKB1 Gene at MOPED

Post-translational modifications for KLKB1 Gene

  • Glycosylation at Asn 127, Asn 308, Asn 396, Asn 453, and Asn 494
  • Modification sites at PhosphoSitePlus

Other Protein References for KLKB1 Gene

Antibody Products

  • R&D Systems Antibodies for KLKB1 (Plasma Kallikrein/KLKB1)

Domains & Families for KLKB1 Gene

Gene Families for KLKB1 Gene

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 :
  • Contains 4 apple domains.
  • Belongs to the peptidase S1 family. Plasma kallikrein subfamily.
Domain:
  • Contains 4 apple domains.
  • Contains 1 peptidase S1 domain.
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

GENATLAS Biochemistry:
kallikrein B,85kDa,plasma (Fletcher factor),cleaving bonds in kininogen to produce bradykinin,activating coagulation factors F12 and F7,contact activation pathway
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.
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

Enzyme Numbers (IUBMB) 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 IEA --
GO:0004497 monooxygenase activity --
GO:0005506 iron ion binding --
GO:0005515 protein binding IPI 2844223
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
genes like me logo Genes that share ontologies with KLKB1: view
genes like me logo Genes that share phenotypes with KLKB1: view

Animal Models for KLKB1 Gene

MGI Knock Outs for KLKB1:

Animal Model Products

miRNA for KLKB1 Gene

miRTarBase miRNAs that target KLKB1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KLKB1

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for KLKB1 Gene COMPARTMENTS Subcellular localization image for KLKB1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for KLKB1 Gene

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

Pathways & Interactions for KLKB1 Gene

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

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 TAS 1993180
GO:0007596 blood coagulation TAS --
GO:0007597 blood coagulation, intrinsic pathway TAS --
GO:0022617 extracellular matrix disassembly TAS --
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

(10) Drugs for KLKB1 Gene - From: NovoSeek, DGIdb, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aprotinin Approved, Withdrawn Pharma Inhibitor of bovine pancreatic trypsin 24
Heparin Approved, Investigational Pharma Antagonist 672,226
Norepinephrine Approved Pharma 206
Potassium Experimental Pharma 0
DX-88 Investigational Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
chloride
Endotoxin
FIBRINOGEN
Fructosamine
  • 1-Amino-1-deoxy-D-fructose
  • D-Isoglucosamine
4429-04-3
Kininogen
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KLKB1

Flow Cytometry 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 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



SOURCE GeneReport for Unigene cluster for KLKB1 Gene Hs.237642

genes like me logo Genes that share expression patterns with KLKB1: view

Protein tissue co-expression partners for KLKB1 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia KLKB1 35
  • 83.44 (n)
  • 79.05 (a)
KLKB1 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLKB1 35
  • 85.49 (n)
  • 80.91 (a)
KLKB1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klkb1 35
  • 79.94 (n)
  • 76.18 (a)
Klkb1 16
Klkb1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klkb1 35
  • 79.26 (n)
  • 74.76 (a)
oppossum
(Monodelphis domestica)
Mammalia KLKB1 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 57 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10472 37
  • 34 (a)
CG10663 37
  • 35 (a)
CG11192 37
  • 39 (a)
CG11824 37
  • 35 (a)
CG1299 37
  • 34 (a)
CG13744 37
  • 33 (a)
CG18065 37
  • 36 (a)
CG18735 37
  • 37 (a)
CG30371 37
  • 31 (a)
CG30375 37
  • 31 (a)
CG3355 37
  • 40 (a)
CG4386 37
  • 38 (a)
CG4613 37
  • 36 (a)
CG4914 37
  • 38 (a)
CG4998 37
  • 35 (a)
CG5246 37
  • 36 (a)
CG5390 37
  • 34 (a)
CG6048 37
  • 38 (a)
CG6865 37
  • 33 (a)
CG7542 37
  • 32 (a)
CG8213 37
  • 34 (a)
CG9294 37
  • 37 (a)
CG9372 37
  • 30 (a)
eegrTry 37
  • 35 (a)
lgrTry 37
  • 37 (a)
mas 37
  • 37 (a)
ndl 37
  • 34 (a)
Sb 37
  • 39 (a)
zgrTry 37
  • 36 (a)
Species with no ortholog for KLKB1:
  • 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)

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 Sequence Context AA Info Type MAF
VAR_013598 Prekallikrein deficiency (PKK deficiency)
VAR_013599 -
VAR_013600 -
VAR_016280 -
VAR_016281 -

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

Variant ID Type Subtype PubMed ID
nsv461864 CNV Gain 19166990
nsv830172 CNV Loss 17160897
nsv881231 CNV Loss 21882294
nsv881472 CNV Gain 21882294
esv2728931 CNV Deletion 23290073
esv2728932 CNV Deletion 23290073
esv2348562 CNV Deletion 18987734
esv2294811 CNV Deletion 18987734
esv25841 CNV Loss 19812545
esv1184118 CNV Deletion 17803354
esv2728933 CNV Deletion 23290073
esv2670775 CNV Deletion 23128226
esv2728934 CNV Deletion 23290073
dgv186n6 CNV Loss 16902084
esv991336 CNV Deletion 20482838
nsv290547 CNV Loss 16902084
esv24919 CNV Loss 19812545

Variation tolerance for KLKB1 Gene

Residual Variation Intolerance Score: 91.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLKB1 Gene

HapMap Linkage Disequilibrium report
KLKB1
Human Gene Mutation Database (HGMD)
KLKB1

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
prekallikrein deficiency, congenital
  • congenital prekallikrein deficiency
fletcher factor deficiency
  • fletcher factor deficiency
malignant essential hypertension
  • accelerated essential hypertension
rocky mountain spotted fever
  • rmsf
c1 inhibitor deficiency
  • quincke edema
- elite association
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

Relevant External Links for KLKB1

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

Publications for KLKB1 Gene

  1. Identification of human plasma kallikrein gene polymorphisms and evaluation of their role in end-stage renal disease. (PMID: 9535413) Yu H. … Freedman B.I. (Hypertension 1998) 2 23 67
  2. Antibody-array interaction mapping, a new method to detect protein complexes applied to the discovery and study of serum amyloid P interactions with kininogen in human plasma. (PMID: 20023212) Bergsma D. … Haab B.B. (Mol. Cell Proteomics 2010) 23 67
  3. Substrate specificity and inhibition of human kallikrein-related peptidase 3 (KLK3 or PSA) activated with sodium citrate and glycosaminoglycans. (PMID: 20371359) Andrade D. … Juliano L. (Arch. Biochem. Biophys. 2010) 23 67
  4. A novel chromogenic peptide for prekallikrein/kallikrein determination. (PMID: 19462932) Huang W.Y. … Zhang S. (Clin. Lab. 2009) 23 67
  5. A case of prekallikrein deficiency resulting in severe recurrent mucosal hemorrhage. (PMID: 19773642) Dasanu C.A. … Alexandrescu D.T. (Am. J. Med. Sci. 2009) 23 67

Products for KLKB1 Gene

Sources for KLKB1 Gene

Back to Top

Content