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Aliases for KLKB1 Gene

Aliases for KLKB1 Gene

  • Kallikrein B, Plasma (Fletcher Factor) 1 2 3
  • KLK3 3 4 6
  • Plasma Prekallikrein 3 4
  • Fletcher Factor 3 4
  • Kininogenin 3 4
  • Plasma Kallikrein Heavy Chain 3
  • Plasma Kallikrein Light Chain 3
  • Plasma Kallikrein 3
  • EC 3.4.21.34 4
  • EC 3.4.21 63
  • 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 fletcher factor deficiency and prekallikrein deficiency, congenital. Among its related pathways are Pathways in cancer and Hemostasis. GO annotations related to this gene include serine-type endopeptidase activity. 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

Start:
186,208,979 bp from pter
End:
186,258,473 bp from pter
Size:
49,495 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 Asn127, Asn308, Asn396, Asn453, and Asn494
  • Modification sites at PhosphoSitePlus

Other Protein References for KLKB1 Gene

Antibody Products

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

Domains for KLKB1 Gene

Gene Families for KLKB1 Gene

HGNC:
  • KLK :Kallikreins

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 :
  • P03952
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:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity IEA --
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

Phenotypes for KLKB1 Gene

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 Targeting 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
endoplasmic reticulum 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 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

Compounds for KLKB1 Gene

(1) HMDB Compounds for KLKB1 Gene

Compound Synonyms Cas Number PubMed IDs
Bradykinin
  • Callidin I
58-82-2

(12) Novoseek inferred chemical compound relationships for KLKB1 Gene

Compound -log(P) Hits PubMed IDs
kininogen 93.4 26
aprotinin 55 1
serine 51 6
fructosamine 38.5 2
fibrinogen 16.7 1
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

Primer Products

  • OriGene qSTAR qPCR primer pairs 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 (26.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for KLKB1 Gene

SOURCE GeneReport for Unigene cluster for KLKB1 Gene Hs.237642

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

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
oppossum
(Monodelphis domestica)
Mammalia KLKB1 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klkb1 35
  • 79.26 (n)
  • 74.76 (a)
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)
CG6048 37
  • 38 (a)
eegrTry 37
  • 35 (a)
lgrTry 37
  • 37 (a)
CG4386 37
  • 38 (a)
mas 37
  • 37 (a)
zgrTry 37
  • 36 (a)
CG1299 37
  • 34 (a)
CG4613 37
  • 36 (a)
ndl 37
  • 34 (a)
CG13744 37
  • 33 (a)
CG18735 37
  • 37 (a)
CG3355 37
  • 40 (a)
Sb 37
  • 39 (a)
CG30371 37
  • 31 (a)
CG10663 37
  • 35 (a)
CG6865 37
  • 33 (a)
CG11192 37
  • 39 (a)
CG8213 37
  • 34 (a)
CG5390 37
  • 34 (a)
CG5246 37
  • 36 (a)
CG7542 37
  • 32 (a)
CG30375 37
  • 31 (a)
CG4998 37
  • 35 (a)
CG4914 37
  • 38 (a)
CG9294 37
  • 37 (a)
CG18065 37
  • 36 (a)
CG9372 37
  • 30 (a)
CG11824 37
  • 35 (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
rs2048 -- 186,226,979(+) atggg(G/T)ctgag upstream-variant-2KB
rs925453 -- 186,258,056(+) CACAA(C/T)GGAAT synonymous-codon, reference
rs1511801 -- 186,229,556(+) ATACA(A/T)TTTTT intron-variant
rs1511802 -- 186,229,652(+) CTCCA(C/T)AGTTG intron-variant
rs1912826 -- 186,228,386(+) GACAC(A/G)TGTCT intron-variant

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

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

(1) OMIM Diseases for KLKB1 Gene (229000)

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.

(4) University of Copenhagen DISEASES for KLKB1 Gene

(10) Novoseek inferred disease relationships for KLKB1 Gene

Disease -log(P) Hits PubMed IDs
hypertension renal 45.3 1
essential hypertension 32.6 3
liver cirrhosis 25.6 3
diabetic retinopathy 12.5 2
cancer 5.41 3

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

Publications for KLKB1 Gene

  1. 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 B.A. … Davie E.W. (Biochemistry 1991) 3 4 23
  2. 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 3 23
  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 D.W. (Genomics 2000) 3 4 23
  4. Common variation in KLKB1 and essential hypertension risk: tagging-SNP haplotype analysis in a case-control study. (PMID: 17318641) Lu X. … Gu D. (Hum. Genet. 2007) 3 23 48
  5. Genetic variants associated with deep vein thrombosis: the F11 locus. (PMID: 19583818) Li Y. … Rosendaal F.R. (J. Thromb. Haemost. 2009) 3 23 48

Products for KLKB1 Gene

Sources for KLKB1 Gene

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