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

KLK1 Gene

protein-coding   GIFtS: 71
GCID: GC19M051322

Kallikrein 1

(Previous names: kallikrein 1, renal/pancreas/salivary)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Kallikrein 11 2     Klk62
Kallikrein 1, Renal/Pancreas/Salivary1 2     Glandular Kallikrein 12
Kidney/Pancreas/Salivary Gland Kallikrein2 3     hK12
Tissue Kallikrein2 3     Kallikrein Serine Protease 12
EC 3.4.21.353 8     kallikrein-12
KLKR2 5     EC 3.4.218

External Ids:    HGNC: 63571   Entrez Gene: 38162   Ensembl: ENSG000001677487   OMIM: 1479105   UniProtKB: P068703   

Export aliases for KLK1 gene to outside databases

Previous GC identifers: GC19M051951 GC19M051683 GC19M055998 GC19M056014 GC19M047656


(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 KLK1 Gene:
Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests
that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease
biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19.
This protein is functionally conserved in its capacity to release the vasoactive peptide, Lys-bradykinin, from
low molecular weight kininogen. (provided by RefSeq, Jul 2008)

GeneCards Summary for KLK1 Gene: 
KLK1 (kallikrein 1) is a protein-coding gene. Diseases associated with KLK1 include vascular dementia, and hereditary angioedema, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and Blood Coagulation Signaling Pathways. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is KLK10.

UniProtKB/Swiss-Prot: KLK1_HUMAN, P06870
Function: Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin

Gene Wiki entry for KLK1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLK1 gene promoter:
         Max1   NF-kappaB1   NF-kappaB   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KLK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLK1


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

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3

KLK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLK1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M051322:  view genomic region     (about GC identifiers)

Start:
51,322,404 bp from pter      End:
51,327,043 bp from pter
Size:
4,640 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KLK1_HUMAN, P06870 (See protein sequence)
Recommended Name: Kallikrein-1 precursor  
Size: 262 amino acids; 28890 Da
1 PDB 3D structure from and Proteopedia for KLK1:
1SPJ (3D)    
Secondary accessions: Q66US9 Q86U61 Q8TCV8 Q9BS53 Q9NQU4 Q9UD19 Q9UMJ1
Alternative splicing: 2 isoforms:  P06870-1   P06870-2   

Explore the universe of human proteins at neXtProt for KLK1: NX_P06870

Explore proteomics data for KLK1 at MOPED 

Post-translational modifications:

  • UniProtKB: The O-linked polysaccharides on Ser-93, Ser-104 and Ser-167 are probably the mucin type linked to GalNAc. In
    PubMed:3163150, GalNAc was detected with the corresponding peptides but not located
  • View neXtProt modification sites for NX_P06870

  • 4/9 DME Specific Peptides for KLK1 (P06870) (see all 9)
     PPIQSRI  CDGVLQG  PDDLQCV  GDSGGPL 

    KLK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KLK1 Protein Expression
    REFSEQ proteins: NP_002248.1  
    ENSEMBL proteins: 
     ENSP00000472939   ENSP00000301420   ENSP00000400994  
    Reactome Protein details: P06870
    Human Recombinant Protein Products for KLK1: 
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for KLK1
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    GenScript Purified and Recombinant Proteins for KLK1
    Novus Biologicals KLK1 Proteins
    Novus Biologicals KLK1 Lysates
    Sino Biological Recombinant Protein for KLK1
    Sino Biological Cell Lysate for KLK1 
    ProSpec Recombinant Protein for KLK1
    Cloud-Clone Corp. Proteins for KLK1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19232384

    KLK1 for ontologies           About GeneDecksing



    KLK1 Antibody Products: 
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    Abcam antibodies for KLK1
    Cloud-Clone Corp. Antibodies for KLK1 
    ThermoFisher Antibodies for KLK1
    LSBio Antibodies in human, mouse, rat for KLK1 

    Assay Products for KLK1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript KLK1-Activity-based Protease Assay for Compound Screening
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KLK1 
    Cloud-Clone Corp. CLIAs for KLK1


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

    4 InterPro protein domains:
     IPR001314 Peptidase_S1A
     IPR009003 Trypsin-like_Pept_dom
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS

    Graphical View of Domain Structure for InterPro Entry P06870

    ProtoNet protein and cluster: P06870

    2 Blocks protein domains:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: KLK1_HUMAN, P06870
    Similarity: Belongs to the peptidase S1 family. Kallikrein subfamily
    Similarity: Contains 1 peptidase S1 domain


    KLK1 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KLK1_HUMAN, P06870
    Function: Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin
    Catalytic activity: Preferential cleavage of Arg- -Xaa bonds in small molecule substrates. Highly selective action
    to release kallidin (lysyl-bradykinin) from kininogen involves hydrolysis of Met- -Xaa or Leu- -Xaa

         Genatlas biochemistry entry for KLK1:
    kallikrein 1,renal/pancreas/salivary

         Enzyme Numbers (IUBMB): EC 3.4.21.351 2 EC 3.4.212

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity NAS7749372
         
    KLK1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KLK1:
     Increased viability after born 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KLK1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KLK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KLK1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KLK1 

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    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLK1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KLK1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Intrinsic Prothrombin Activation Pathway0.40
    Blood Coagulation Cascade0.39
    2Formation of Fibrin Clot (Clotting Cascade)
    Blood Clotting Cascade0.42
    3Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    4Cell adhesion ECM remodeling
    Cell adhesion ECM remodeling0.31
    5Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
    Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KLK1
        Cell adhesion ECM remodeling

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KLK1
        MSP-RON Signaling
    Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway

    1 GeneGo (Thomson Reuters) Pathway for KLK1
        Cell adhesion ECM remodeling

    1 BioSystems Pathway for KLK1
        Blood Clotting Cascade


    2        Reactome Pathways for KLK1
        Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
    Metabolism of proteins


    1         Kegg Pathway  (Kegg details for KLK1):
        Endocrine and other factor-regulated calcium reabsorption


    KLK1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KLK1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/7 Interacting proteins for KLK1 (P068703 ENSP000003014204) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SERPINA5P051543, ENSP000003332034I2D: score=1 STRING: ENSP00000333203
    SERPINA4P296223, ENSP000002988414I2D: score=3 STRING: ENSP00000298841
    KNG1P010423, ENSP000002650234I2D: score=1 STRING: ENSP00000265023
    CFHP086033I2D: score=1 
    PSMF1Q925303I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--

    KLK1 for ontologies           About GeneDecksing



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

    KLK1 for compounds           About GeneDecksing

    EMD Millipore small molecules for KLK1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KLK1

    2 HMDB Compounds for KLK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    SomatostatinGrowth hormone release inhibiting factor;Somatostatin-14;Ala-Gly-Cys-Lys-Asn-Phe-Phe-Trp-Lys-Thr-Phe-Thr-Ser-Cys ----
    Somatostatin fragment 3-14Cys-Lys-Asn-Phe-Phe-Trp-Lys-Thr-Phe-Thr-Ser-Cys [Disulfide bridge: 3-14] ----

    1 DrugBank Compound for KLK1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AprotininBayer A 128 (see all 5)9087-70-1target--15277296

    5 Novoseek inferred chemical compound relationships for KLK1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kininogen 75.1 3 10232657 (1), 18713009 (1), 19923143 (1)
    anthranilate 56 1 10191281 (1)
    serine 51.1 6 10438493 (1), 19527222 (1), 10232657 (1), 18713009 (1) (see all 6)
    steroid 0 1 15167446 (1)
    arginine 0 1 11027412 (1)

    Search CenterWatch for drugs/clinical trials and news about KLK1

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KLK1 gene: 
    NM_002257.3  

    Unigene Cluster for KLK1:

    Kallikrein 1
    Hs.123107  [show with all ESTs]
    Unigene Representative Sequence: AK293363
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000593859 ENST00000593325 ENST00000301420(uc002ptk.1) ENST00000596300
    ENST00000448701(uc010ycg.1)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KLK1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate KLK1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KLK1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KLK1
    Clone
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    OriGene clones in human, mouse for KLK1 (see all 5)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KLK1 (NM_002257)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLK1
    Sirion Biotech Customized lentivirus for stable overexpression of KLK1 
                         Customized lentivirus expression plasmids for stable overexpression of KLK1 
    Primer
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    OriGene qPCR primer pairs and template standards for KLK1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLK1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLK1

    Additional mRNA sequence: 

    AK293363.1 AY429508.1 AY703451.1 BC005313.1 BT007253.1 M12706.1 M25629.1 S77952.1 
    X13561.1 

    4 DOTS entries:

    DT.442582  DT.92421645  DT.101970509  DT.121463940 

    24/84 AceView cDNA sequences (see all 84):

    BQ776791 NM_002257 AW015670 S77952 CB958527 BI834054 AY429508 BF593588 
    X13561 M12706 BM919307 BI837023 AI760972 BT007253 BF431659 CA448565 
    BP334360 AA954717 BQ776444 BX103886 BI839088 BU616534 BU599652 CB178637 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for KLK1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5
    SP1:                              
    SP2:                              


    ECgene alternative splicing isoforms for KLK1

    (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

    KLK1 expression in normal human tissues (normalized intensities)      KLK1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCTACGTC
    KLK1 Expression
    About this image


    KLK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Pancreas (Endocrine System)
             Pancreatic Islet   
     
     Colon (Gastrointestinal Tract)
             colonic mucosal (ibs)   
     
     Neuron (Nervous System)
             GABA neuron-like cells ( Generation of motor and gamma-aminobutyric acid (GABA)...
     
     Brain (Nervous System)
             GABA neuron-like cells ( Generation of motor and gamma-aminobutyric acid (GABA)...
     
     Oral Cavity (Gastrointestinal Tract)
             Salivary gland   

    See KLK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLK1

    SOURCE GeneReport for Unigene cluster: Hs.123107

    UniProtKB/Swiss-Prot: KLK1_HUMAN, P06870
    Tissue specificity: Isoform 2 is expressed in pancreas, salivary glands, kidney, colon, prostate gland, testis,
    spleen and the colon adenocarcinoma cell line T84

        SABiosciences Expression via Pathway-Focused PCR Array including KLK1: 
              Nephrotoxicity in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLK1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLK1

    (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
      --

    ENSEMBL Gene Tree for KLK1 (if available)
    TreeFam Gene Tree for KLK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLK1 gene
    KLK102  ENSG000002697412  KLK42  PRSS372  KLK112  KLK72  KLK142  KLK92  
    KLK122  KLK132  KLK62  KLK22  KLK152  KLK52  PRSS12  PRSS582  
    PRSS32  KLK82  KLK32  
    18/61 SIMAP similar genes for KLK1 using alignment to 4 protein entries:     KLK1_HUMAN (see all proteins) (see all similar genes):
    KLK2    APS    KLK3    KLK8    KLK7    KLK11
    TRY8    TRY6    KLK13    PRSS3    KLK6    PRSS2
    DKFZp586F0824    KLK5    KLK12    PRSS1    KLK10    KLK4

    KLK1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KLK1
    PGOHUM00000259349


    (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) 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

    10/202 SNPs in KLK1 are shown (see all 202)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs55151,2,4
    C,F,Hpathogenic151505421(-) GGGTCG/ACCACA 2 /H /R mis1 ese329Minor allele frequency- A:0.05MN NS EA NA CSA WA EU 8504
    rs32128261,2
    C,F--51324605(-) ACCCA-/CT/TC 
            
    TCTCT
    1 -- int12NS 82
    rs32128181,2
    H--51326563(-) TCCTGC/TCCCCT 1 -- int16Minor allele frequency- T:0.00NS EA 500
    rs1387440301,2
    --51326635(+) AGAGAC/TAGAGA 1 -- int10--------
    rs32128561,2
    C,F,H--51326750(-) TAGTGC/TTCACT 1 -- int19Minor allele frequency- T:0.01NS EA NA 636
    rs24344521,2
    H--51326795(+) GTGGGG/CCCGCG 1 -- int14Minor allele frequency- C:0.00NS EA 420
    rs1868053431,2
    --51326800(+) GCCGCA/GCAAGA 1 -- int10--------
    rs32128171,2
    C,F,H--51326846(-) CTGGCC/TCACAG 1 -- int112Minor allele frequency- T:0.01NS EA 1152
    rs3704199411,2
    C--51326889(+) CTTAT-/CGGGGG 1 -- int10--------
    rs3759624961,2
    C--51326893(+) TCGGGA/GGGGGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for KLK1 (51322404 - 51327043 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KLK1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv203n21CNV Loss19592680
    dgv3977n71CNV Loss21882294
    dgv204n21CNV Loss19592680


    Human Gene Mutation Database (HGMD): KLK1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KLK1
    DNA2.0 Custom Variant and Variant Library Synthesis for KLK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 147910    OMIM disorders: --

    20/35 diseases for KLK1 (see all 35):    About MalaCards
    vascular dementia    hereditary angioedema    vesicoureteral reflux    angioedema
    cerebral hemorrhage    intracranial aneurysm    abdominal aortic aneurysm    temporal lobe epilepsy
    blood clots    lupus nephritis    aortic aneurysm    nephritis
    colon adenocarcinoma    nasopharyngitis    dementia    essential hypertension
    meningioma    hypertension    cerebritis    renal cell carcinoma

    2 diseases from the University of Copenhagen DISEASES database for KLK1:
    Hypertension     Ovarian cancer

    KLK1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for KLK1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 16.8 4 15015574 (2), 16109785 (1)
    ovarian cancer 6.6 1 16109785 (1)
    renal failure chronic 0.414 2 11849458 (1), 15086490 (1)
    tumors 0 1 9815828 (1)

    Genetic Association Database (GAD): KLK1
    Human Genome Epidemiology (HuGE) Navigator: KLK1 (24 documents)

    Export disorders for KLK1 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)
    About This Section

    PubMed articles for KLK1 gene, integrated from 9 sources (see all 137):
    (articles sorted by number of sources associating them with KLK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Significance of the tissue kallikrein promoter and transforming growth factor-beta1 polymorphisms with renal progression in children with vesicoureteral reflux. (PubMed id 15086490)1, 4, 9 Lee-Chen G.J....Lin C.Y. (2004)
    2. Association of the tissue kallikrein gene promoter with ESRD and hypertension. (PubMed id 11849458)1, 4, 9 Yu H....Bowden D.W. (2002)
    3. Human glandular Kallikrein genes: genetic and physical mapping of the KLK1 locus using a highly polymorphic microsatellite PCR marker. (PubMed id 1684954)1, 3, 9 Richards R.I....Shaw D. (1991)
    4. A coding polymorphism of the kallikrein 1 gene is associated with essential hypertension: a tagging SNP-based association study in a Chinese Han population. (PubMed id 17762646)1, 4, 9 Zhao W....Gu D. (2007)
    5. KLK1 gene polymorphisms are not associated with lupus nephritis in a Chinese Han population. (PubMed id 20516044)1, 4, 9 Zhou X.J....Zhang H. (2010)
    6. Genetic analysis of 22 candidate genes for hypertension in the Japanese population. (PubMed id 15167446)1, 4, 9 Iwai N....Shioji K. (2004)
    7. [Association of single nucleotide polymorphisms of ka llikrein 1 gene with cerebral hemorrhage in Changsha Han Chinese] (PubMed id 20533273)1, 4 Zeng Y....Hu Z.P. (2010)
    8. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    9. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3816 HGNC: 6357 AceView: KLK1 Ensembl:ENSG00000167748 euGenes: HUgn3816
    ECgene: KLK1 Kegg: 3816 H-InvDB: KLK1

    (According to HUGE)
    About This Section
      --

    (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 KLK1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KLK1 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Kallikrein
    SeattleSNPshttp://pga.gs.washington.edu/data/klk1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KLK1 gene:
    Search GeneIP for patents involving KLK1

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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