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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KLKB1 Gene

protein-coding   GIFtS: 69
GCID: GC04P187130

kallikrein B, plasma (Fletcher factor) 1


(Previous symbol: KLK3)
 Explore 37 diseases affiliated with
KLKB1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KLKB1    

Aliases
for KLKB1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Kallikrein B, Plasma (Fletcher Factor) 11 2     Plasma Kallikrein2
KLK31 2 3 5     Plasma Kallikrein Heavy Chain2
Plasma Prekallikrein2 3     Plasma Kallikrein Light Chain2
Fletcher Factor2 3     EC 3.4.21.343
PPK2     Kininogenin3
Kininogenin3     EC 3.4.218

External Ids:    HGNC: 63711   Entrez Gene: 38182   Ensembl: ENSG000001643447   OMIM: 2290005   UniProtKB: P039523   

Export aliases for KLKB1 gene to outside databases

Previous GC identifers: GC04P188183 GC04P187828 GC04P187733 GC04P187844 GC04P187523 GC04P187385 GC04P187147 GC04P182900


Summaries
for KLKB1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for KLKB1:
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)

UniProtKB/Swiss-Prot: KLKB1_HUMAN, P03952
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

Gene Wiki entry for KLKB1


Genomic Views
for KLKB1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLKB1 gene promoter:
         TBP   AML1a   MEF-2   C/EBPalpha   FOXL1   MEF-2A   SRY   HFH-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KLKB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLKB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLKB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q35   Ensembl cytogenetic band:  4q35.2   HGNC cytogenetic band: 4q35

KLKB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLKB1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P187130:  view genomic region     (about GC identifiers)

Start:
 187,130,133 bp from pter      End:
 187,179,625 bp from pter
Size:
 49,493 bases      Orientation:
 plus strand

Proteins
for KLKB1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: KLKB1_HUMAN, P03952 (See protein sequence)
Recommended Name: Plasma kallikrein precursor  
Size: 638 amino acids; 71370 Da
Subunit: 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
Subcellular location: Secreted
2 PDB 3D structures from and Proteopedia for KLKB1:
2ANW (3D)        2ANY (3D)    
Secondary accessions: A6NH96 B2R8H9 Q17RE8 Q17RE9 Q4W5C3

Explore the universe of human proteins at neXtProt for KLKB1: NX_P03952

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P03952

    • 4/14 DME Specific Peptides for KLKB1 (P03952) (see all 14)
     DIALIKL  CWVTGWG  HPRCLLF  SGGPLVC 

    KLKB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000883.2  
    ENSEMBL proteins: 
     ENSP00000426629   ENSP00000412366   ENSP00000264690   ENSP00000415563   ENSP00000392231  
     ENSP00000424469  
    Reactome Protein details: P03952
    Human Recombinant Protein Products: 
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    R&D Systems Recombinant & Natural Proteins for KLKB1 (Plasma Kallikrein/KLKB1)
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    Novus Biologicals KLKB1 Protein
    Novus Biologicals KLKB1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for KLKB1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA89876
    GO:0005886plasma membrane TAS--


    KLKB1 for ontologies           About GeneDecksing



    KLKB1 Antibody Products: 
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    Assay Products for KLKB1: 
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    Uscn ELISAs and CLIAs for KLKB1

    Protein Domains /
    Families
    for KLKB1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KLKB1 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR001314 Peptidase_S1A
     IPR000177 Apple
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS
     IPR003609 Pan_app

    Graphical View of Domain Structure for InterPro Entry P03952

    ProtoNet protein and cluster: P03952

    4 Blocks protein families:
    IPB000177 Apple domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB003014 N/apple PAN


    UniProtKB/Swiss-Prot: KLKB1_HUMAN, P03952
    Similarity: Belongs to the peptidase S1 family. Plasma kallikrein subfamily
    Similarity: Contains 4 apple domains
    Similarity: Contains 1 peptidase S1 domain


    Function
    for KLKB1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: KLKB1_HUMAN, P03952
    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
    Catalytic activity: Cleaves selectively Arg- -Xaa and Lys- -Xaa bonds, including Lys- -Arg and Arg- -Ser bonds in
    (human) kininogen to release bradykinin
    Enzyme regulation: Inhibited by SERPINA5

         Genatlas biochemistry entry for KLKB1:
    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): EC 3.4.212 EC 3.4.21.341

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: KLKB1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KLKB1 (see all 7)
    OriGene shRNA RFP: KLKB1
    OriGene siRNA: KLKB1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KLKB1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for KLKB1

    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for KLKB1

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005515protein binding IPI2844223


    KLKB1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Klkb1tm1Tigm for KLKB1
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Klkb1):
     cardiovascular system  homeostasis/metabolism 

    KLKB1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for KLKB1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Formation of Fibrin Clot (Clotting Cascade)
    		Formation of Fibrin Clot (Clotting Cascade)1.00
    		Blood Coagulation Signaling Pathways0.51
    		Intrinsic Pathway0.59
    		Blood Clotting Cascade0.36
    2Degradation of the extracellular matrix
    		Degradation of the extracellular matrix1.00
    		Activation of Matrix Metalloproteinases0.40
    3Complement and coagulation cascades
    		Complement and coagulation cascades1.00
    		Complement and Coagulation Cascades0.72
    4Blood Coagulation Cascade
    		Blood Coagulation Cascade1.00
    		Intrinsic Prothrombin Activation Pathway0.96
    5Development_CNTF receptor signaling
    		Cell adhesion Plasmin signaling0.07
    		Cell adhesion_Plasmin signaling0.07

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for KLKB1
        Cell adhesion Plasmin signaling

    1 R&D Systems Pathway for KLKB1
        Blood Coagulation Signaling Pathways

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KLKB1
        MSP-RON Signaling
    Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway

    1 GeneGo (Thomson Reuters) Pathway for KLKB1
        Cell adhesion Plasmin signaling

    2 BioSystems Pathways for KLKB1 
        Blood Clotting Cascade
    Complement and Coagulation Cascades

    5/6        Reactome Pathways for KLKB1 (see all 6)
        Hemostasis
    Extracellular matrix organization
    Formation of Fibrin Clot (Clotting Cascade)
    Intrinsic Pathway
    Degradation of the extracellular matrix


    1         Kegg Pathway  (Kegg details for KLKB1):
        Complement and coagulation cascades


    KLKB1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLKB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/18 Interacting proteins for KLKB1 (P039523 ENSP000002646904) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SERPINA5P051543, ENSP000003332034I2D: score=2 STRING: ENSP00000333203
    HGFP142103, ENSP000002223904I2D: score=1 STRING: ENSP00000222390
    KNG1P010423, ENSP000002650234I2D: score=2 STRING: ENSP00000265023
    F12P007483, ENSP000002534964I2D: score=2 STRING: ENSP00000253496
    HGFACQ047563, ENSP000003722244I2D: score=1 STRING: ENSP00000372224
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002542Factor XII activation TAS2510163
    GO:0006508proteolysis IEA--
    GO:0007596blood coagulation TAS--
    GO:0007597blood coagulation, intrinsic pathway TAS--
    GO:0022617extracellular matrix disassembly TAS--


    KLKB1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KLKB1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KLKB1 for compounds           About GeneDecksing

    EMD Millipore small molecules for KLKB1:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for KLKB1

    Browse Tocris compounds for KLKB1

    1 HMDB Compound for KLKB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    BradykininCallidin I (see all 5)58-82-2--
    10/12 Novoseek chemical compound relationships for KLKB1 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kininogen 93.4 29 8761966 (4), 11888508 (2), 16026275 (2), 2320652 (1) (see all 21)
    aprotinin 55 1 16430537 (1)
    serine 51 6 11383556 (1), 8407978 (1), 14996700 (1), 11031105 (1) (see all 6)
    fructosamine 38.5 2 8596745 (1), 16099335 (1)
    fibrinogen 16.7 3 16099335 (1)
    cysteine 14.9 2 15576330 (1), 10354362 (1)
    sodium 9.29 3 9199117 (2), 9181253 (1)
    endotoxin 0 2 8856190 (1), 7685203 (1)
    chloride 0 2 9199117 (2)
    potassium 0 2 9199117 (2)

    Search CenterWatch for drugs/clinical trials and news about KLKB1 

    Transcripts
    for KLKB1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for KLKB1 gene: 
    NM_000892.3  

    Unigene Cluster for KLKB1:

    Kallikrein B, plasma (Fletcher factor) 1
    Hs.237642  [show with all ESTs]
    Unigene Representative Sequence: AK292624
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000511608 ENST00000428196 ENST00000264690(uc003iyy.3 uc011clc.2 uc011cld.2)
    ENST00000446598 ENST00000414291 ENST00000513864 ENST00000511406 ENST00000467271


    miRNA
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AK292624.1 AK297672.1 AK313378.1 BC117349.1 BC117351.1 BC143911.1 M13143.2 

    2 DOTS entries:

    DT.106311  DT.95161416 

    24/30 AceView cDNA sequences (see all 30):

    N52213 AI798892 CB161250 BM055325 M13143 AW772626 CB162532 AI670809 
    BX119761 CB164461 AW780005 CB161814 BI771604 AW182528 BM055046 CB116942 
    BM054935 CB163561 NM_000892 CD652077 AV699505 N73158 BM715596 AV689323 

    GeneLoc Exon Structure


    Expression
    for KLKB1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KLKB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTGTGTGTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KLKB1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    ES04(HES-4) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    See KLKB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLKB1

    SOURCE GeneReport for Unigene cluster: Hs.237642
        SABiosciences Custom PCR Arrays for KLKB1
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLKB1

    Orthologs
    for KLKB1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for KLKB1 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves F1NUN5_CHICK6
    		 Uncharacterized protein
    		 57(a)
    		 1 → many
    		 4(63215033-63231234)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 53(a)
    		 1 → many
    		 5(112145960-112171893)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BC056000.12   -- 73.48(n)    BC056000.1 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 7(a)
    		 1 → many
    		 Group8.13(34141-43800)


    ENSEMBL Gene Tree for KLKB1 (if available)
    TreeFam Gene Tree for KLKB1 (if available) 

    Paralogs
    for KLKB1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLKB1 gene
    PRSS462  PRSS552  PRSS482  PRSS222  PRSS272  PRSS212  PRSS452  TPSG12  
    TPSD12  PRSS382  TPSAB12  PRSS532  PRSS502  PRSS422  PRSS362  PRSS332  
    PRSS82  F112  OVCH12  
    18/84 SIMAP similar genes for KLKB1 using alignment to 6 protein entries:     KLKB1_HUMAN (see all proteins) (see all similar genes):
    CYP3A5    F11    CELA2B    TMPRSS3    PRSS55    PRSS1
    DKFZp586F0824    F12    PRSS8    UNQ9391    TMPRSS5    DKFZp779M0222
    MGC52282    PROC    PROC1    PRSS21    TMPRSS11F    PRSS22

    KLKB1 for paralogs           About GeneDecksing



    Genomic Variants
    for KLKB1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for KLKB1
         2 CNVs: 68875 68874
         6 Indels: 12603 46582 12604 68876 27554 46581
    Human Gene Mutation Database (HGMD): KLKB1
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KLKB1
    DNA2.0 Custom Variant and Variant Library Synthesis for KLKB1

    Disorders / Diseases
    for KLKB1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    KLKB1 for disorders           About GeneDecksing

    OMIM gene information: 229000   
    OMIM disorders: 612423  
    UniProtKB/Swiss-Prot: KLKB1_HUMAN, P03952
  • Defects in KLKB1 are the cause of prekallikrein deficiency (PKK deficiency) [MIM:612423]; also known as
    • Fletcher factor deficiency. This disorder is a blood coagulation defect

    20/37 diseases for KLKB1 (see all 37):    About MalaCards
    prekallikrein deficiency    fletcher factor deficiency    disseminated intravascular coagulation    factor xii deficiency
    deep vein thrombosis    essential hypertension    ovarian hyperstimulation syndrome    malignant essential hypertension
    diabetic retinopathy    liver cirrhosis    coronary heart disease    atopic dermatitis
    hypertension    ulcerative colitis    pleurisy    angioedema
    hypertensive nephropathy    thrombosis    hepatocellular carcinoma    urticaria

    4 diseases from the University of Copenhagen DISEASES database for KLKB1:
    Urticaria     Factor XII deficiency     Pleurisy     Acute pancreatitis

    10 Novoseek disease relationships for KLKB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypertension renal 45.3 1 1325521 (1)
    essential hypertension 32.6 3 17318641 (3)
    liver cirrhosis 25.6 3 8250496 (2), 8833936 (1)
    diabetic retinopathy 12.5 2 16099335 (2)
    cancer 5.41 4 1689607 (1), 19462932 (1), 1906858 (1)
    retinopathy 2.21 1 8596745 (1)
    renal disease 0 1 12716755 (1)
    inflammation 0 1 17696780 (1)
    cirrhosis 0 1 2154845 (1)
    hepatocellular carcinoma 0 2 8250496 (2)

    Genatlas disease: KLKB1
    Fletcher factor deficiency,without bleeding diathesis

    Human Genome Epidemiology (HuGE) Navigator: KLKB1 (9 documents)

    Export disorders for KLKB1 gene to outside databases

    Publications
    for KLKB1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KLKB1 gene, integrated from 9 sources (see all 149):
    (articles sorted by number of sources associating them with KLKB1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human plasma prekallikrein, a zymogen to a serine protease that contains four tandem repeats. (PubMed id 3521732)1, 2, 3 Chung D.W....Davie E.W. (1986)
    2. Genomic structure of the human plasma prekallikrein gene, identification of allelic variants, and analysis in end-stage renal disease. (PubMed id 11031105)1, 2, 9 Yu H.... Bowden D.W. (2000)
    3. Identification of human plasma kallikrein gene polymorphisms and evaluation of their role in end-stage renal disease. (PubMed id 9535413)1, 3, 9 Yu H....Freedman B.I. (1998)
    4. Location of the disulfide bonds in human plasma prekallikrein: the presence of four novel apple domains in the amino-terminal portion of the molecule. (PubMed id 1998666)1, 2, 9 McMullen B.A.... Davie E.W. (1991)
    5. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519)1, 2 Zhang H.... Aebersold R. (2003)
    8. Inactivation of human plasma kallikrein and factor XIa by protein C inhibitor. (PubMed id 2844223)1, 2 Meijers J.C....Bouma B.N. (1988)
    9. High and low molecular weight kininogen and plasma prekallikrein/plasma kallikrein in villous capillaries of human term placenta. (PubMed id 8761966)1, 9 Hermann A....Rehbock J. (1996)
    10. Common variation in KLKB1 and essential hypertension risk: tagging-SNP haplotype analysis in a case-control study. (PubMed id 17318641)1, 9 Lu X....Gu D. (2007)

    External Searches for KLKB1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing KLKB1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3818 HGNC: 6371 AceView: KLKB1 Ensembl:ENSG00000164344 euGenes: HUgn3818
    ECgene: KLKB1 Kegg: 3818 H-InvDB: KLKB1

    Other Databases showing KLKB1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KLKB1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KLKB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KLKB1 Genetics and Cytogenetics in Oncology and Haematology
    SeattleSNPshttp://pga.gs.washington.edu/data/klkb1/

    Intellectual Property
    for KLKB1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for KLKB1 gene:
    Search GeneIP for patents involving KLKB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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