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KLKB1 Gene

protein-coding   GIFtS: 69
GCID: GC04P187130

Kallikrein B, Plasma (Fletcher Factor) 1


(Previous symbol: KLK3)
  See KLKB1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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
kininogenin2     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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, and malignant essential hypertension. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is TMPRSS11D.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   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 plasmidKLKB1 promoter sequence
   Search Chromatin IP Primers for KLKB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for KLKB1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn127, Asn308, Asn396, Asn453, Asn494
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for KLKB1 (P03952) (see all 14)
     DIALIKL  CWVTGWG  HPRCLLF  SGGPLVC 


    See KLKB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000883.2  
    ENSEMBL proteins: 
     ENSP00000426629   ENSP00000412366   ENSP00000264690   ENSP00000415563   ENSP00000392231  
     ENSP00000424469  
    Reactome Protein details: P03952

    KLKB1 Human Recombinant Protein Products:

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    Novus Biologicals KLKB1 Protein
    Novus Biologicals KLKB1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for KLKB1 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KLK: Kallikreins

    Selected InterPro protein domains (see all 7):
     IPR003609 Pan_app
     IPR003014 PAN-1_domain
     IPR001314 Peptidase_S1A
     IPR009003 Trypsin-like_Pept_dom
     IPR000177 Apple

    Graphical View of Domain Structure for InterPro Entry P03952

    ProtoNet protein and cluster: P03952

    4 Blocks protein domains:
    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


    Find genes that share domains with KLKB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005506iron ion binding ----
    GO:0005515protein binding IPI2844223
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
         
    Find genes that share ontologies with KLKB1           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Klkb1):
     cardiovascular system  homeostasis/metabolism 

    Find genes that share phenotypes with KLKB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Klkb1tm1Tigm for KLKB1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KLKB1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KLKB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KLKB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KLKB1

    miRNA
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    miRTarBase miRNAs that target KLKB1:
    hsa-mir-335-5p (MIRT017222)

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    SwitchGear 3'UTR luciferase reporter plasmidKLKB1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KLKB1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: KLKB1 (NM_000892)
    Sino Biological Human cDNA Clone for KLKB1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLKB1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLKB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KLKB1_HUMAN, P03952: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4
    cytosol1
    endoplasmic reticulum1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with KLKB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for KLKB1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Blood Clotting Cascade0.42
    Blood Coagulation Signaling Pathways0.51
    Intrinsic Pathway0.00
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    3Collagen biosynthesis and modifying enzymes
    Intrinsic Prothrombin Activation Pathway0.39
    Blood Coagulation Cascade0.38
    4Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34
    5Hemostasis
    Hemostasis0.43


    Find genes that share SuperPaths with KLKB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    3 Downloadable PowerPoint Slides of GeneGlobe 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


    2 Reactome Pathways for KLKB1
        Intrinsic Pathway
    Activation of Matrix Metalloproteinases


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KLKB1
    Interactions:

        Search GeneGlobe Interaction Network for KLKB1

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

    Selected 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): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002542Factor XII activation TAS2510163
    GO:0006508proteolysis TAS1993180
    GO:0007596blood coagulation TAS--
    GO:0007597blood coagulation, intrinsic pathway TAS--
    GO:0022617extracellular matrix disassembly TAS--

    Find genes that share ontologies with KLKB1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for KLKB1
      Browse compounds at ApexBio 

    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--

    Selected Novoseek inferred 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)



    Find genes that share compounds with KLKB1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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

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      QuantiFast Probe-based Assays in human, mouse, rat KLKB1

    Additional mRNA sequence: 

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

    2 DOTS entries:

    DT.106311  DT.95161416 

    Selected AceView cDNA sequences (see all 30):

    N52213 BM055325 AI798892 CB161250 NM_000892 AW772626 AI670809 M13143 
    CB163561 AW182528 CD652077 BM054935 CB162532 BM055046 CB116942 CB164461 
    AW780005 BI771604 CB161814 BX119761 AV699505 N73158 BG981671 BM715596 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KLKB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGTGTGTT
    KLKB1 Expression
    About this image


    KLKB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 4 entries
             hIPS1
     
     Liver (Hepatobiliary System)
             Liver Lobule
    KLKB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLKB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.237642
        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 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KLKB1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klkb11 , 5 kallikrein B, plasma 11, 5 79.94(n)1
    76.18(a)1
      8 (25.17 cM)5
    166211  NM_008455.21  NP_032481.21 
     452694425 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    57(a)
    1 → many
    4(60984023-61001007)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    54(a)
    1 → many
    5(112144573-112182752)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC056000.12   -- 73.48(n)    BC056000.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KLKB1 gene
    TMPRSS11D2  TMPRSS32  TMPRSS11B2  TMPRSS62  TMPRSS11A2  TMPRSS72  TMPRSS52  TMPRSS42  
    ST142  TMPRSS132  TMPRSS11E2  TMPRSS22  F112  HPN2  TMPRSS152  TMPRSS11F2  
    Selected 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

    Find genes that share paralogs with KLKB1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KLKB1 (see all 952)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs37334021,2,,4
    C,FPrekallikrein deficiency (PKK deficiency)4 pathogenic1186916829(+) CACCAA/C/GTAACA 2 N S mis1 ese323NS NA WA CSA EA EU 7037
    VAR_0549084
    Prekallikrein deficiency (PKK deficiency)4--see VAR_0549082 C Y mis40--------
    VAR_0549074
    Prekallikrein deficiency (PKK deficiency)4--see VAR_0549072 G R mis40--------
    rs1219649491,2
    Cpathogenic1186916738(+) GCCATC/TGAGAC 2 R * stg11Minor allele frequency- T:0.00EU 1319
    rs1219649511,2
    C,Fpathogenic1186937230(+) AGAATG/ACCAGA 2 /Y /C mis12Minor allele frequency- A:0.00NA EU 5617
    rs99942081,2
    C,F,H--186905482(+) ttcacG/Accatt 1 -- us2k17Minor allele frequency- A:0.27NA WA CSA 15
    rs1844568181,2
    --186905537(+) CACCAC/TGCCTG 1 -- us2k10--------
    rs68471841,2
    C--186905604(+) ggtctC/Tgatct 1 -- us2k10--------
    rs1886592271,2
    --186905631(+) ACCCAC/TCTTGG 1 -- us2k10--------
    rs1814075861,2
    --186905668(+) ATGAGC/TCACTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KLKB1 (187130133 - 187179625 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KLKB1 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2728931CNV Deletion23290073
    esv2728934CNV Deletion23290073
    esv2294811CNV Deletion18987734
    esv1184118CNV Deletion17803354
    esv2728933CNV Deletion23290073
    esv991336CNV Deletion20482838
    esv2348562CNV Deletion18987734
    esv2670775CNV Deletion23128226
    esv2728932CNV Deletion23290073
    esv25841CNV Loss19812545

    Human Gene Mutation Database (HGMD): KLKB1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KLKB1
    DNA2.0 Custom Variant and Variant Library Synthesis for KLKB1

    (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.)
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    OMIM gene information: 229000   
    OMIM disorders: 612423  
    UniProtKB/Swiss-Prot: KLKB1_HUMAN, P03952
  • Prekallikrein deficiency (PKK deficiency) [MIM:612423]: This disorder is a blood coagulation defect.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for KLKB1:    
    About MalaCards
    prekallikrein deficiency    malignant essential hypertension    fletcher factor deficiency    factor xii deficiency
    essential hypertension

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

    Find genes that share disorders with KLKB1           About GenesLikeMe

    10 Novoseek inferred 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

    Genetic Association Database (GAD): KLKB1
    Human Genome Epidemiology (HuGE) Navigator: KLKB1 (9 documents)

    Export disorders for KLKB1 gene to outside databases

    (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)
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    PubMed articles for KLKB1 gene, integrated from 10 sources (see all 152):
    (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. (Biochemistry 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. (Genomics 2000)
    3. Common variation in KLKB1 and essential hypertension risk: tagging-SNP haplotype analysis in a case-control study. (PubMed id 17318641)1, 4, 9 Lu X....Gu D. (Hum. Genet. 2007)
    4. 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. (Hypertension 1998)
    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. (PubMed id 1998666)1, 2, 9 McMullen B.A.... Davie E.W. (Biochemistry 1991)
    6. Genetic variants associated with deep vein thrombosis: the F11 locus. (PubMed id 19583818)1, 4, 9 Li Y....Rosendaal F.R. (J. Thromb. Haemost. 2009)
    7. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PubMed id 22286219)1, 4 Kettunen J....Ripatti S. (Nat. Genet. 2012)
    8. Human metabolic individuality in biomedical and pharmaceutical research. (PubMed id 21886157)1, 4 Suhre K....Gieger C. (Nature 2011)
    9. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    10. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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