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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hereditary angioedema, and vascular dementia. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for KLK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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: 

  • 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 located1
  • Glycosylation2 at Ser93, Asn102, Ser104, Asn108, Asn165, Ser167
  • Selected DME Specific Peptides for KLK1 (P06870) (see all 9)
     PPIQSRI  CDGVLQG  PDDLQCV  GDSGGPL 


    See KLK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002248.1  
    ENSEMBL proteins: 
     ENSP00000472939   ENSP00000301420   ENSP00000400994  
    Reactome Protein details: P06870

    KLK1 Human Recombinant Protein Products:

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    Novus Biologicals KLK1 Lysates
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    Sino Biological Cell Lysate for KLK1
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    Cloud-Clone Corp. Proteins for KLK1

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    KLK1 Assay Products:

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    Cloud-Clone Corp. CLIAs for KLK1


    (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

    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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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: Let us create your new Knockout/Knockin mouse model for KLK1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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

    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KLK1

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    OriGene clones in human, mouse for KLK1 (see all 4)
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    GenScript: all cDNA clones in your preferred vector: KLK1 (NM_002257)
    Sino Biological Human cDNA Clone for KLK1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLK1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for KLK1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLK1


    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular3
    golgi apparatus1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19232384
    GO:0070062extracellular vesicular exosome IDA19056867

    KLK1 for ontologies           About GeneDecksing


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

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Intrinsic Prothrombin Activation Pathway0.39
    Blood Coagulation Cascade0.38
    2Formation of Fibrin Clot (Clotting Cascade)
    Blood Clotting Cascade0.42
    3Cell adhesion ECM remodeling
    Cell adhesion ECM remodeling0.31
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    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

    3 Downloadable PowerPoint Slides of GeneGlobe 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


    1 Reactome Pathway for KLK1
        Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)


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


    KLK1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KLK1: 
              Nephrotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KLK1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for KLK1 (P068703 ENSP000003014204) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    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:    About this table

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

    KLK1 for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    KLK1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLK1
    Primer
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    OriGene qPCR primer pairs and template standards for KLK1
    OriGene qSTAR qPCR primer pairs in human, mouse for KLK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat KLK1
      QuantiTect SYBR Green Assays in human, mouse, rat KLK1
      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 

    Selected AceView cDNA sequences (see all 84):

    CB958527 AW015670 S77952 NM_002257 X13561 AY429508 BI834054 BQ776791 
    BF593588 AI628456 AW235647 M25629 AW004861 BG655746 BI839088 BG656040 
    BF431659 BI837023 BQ778529 AA366980 BP334360 BG758556 BM773339 BI759204 

    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™, 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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    KLK1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Neurons
             GABA neuron-like cells
     
     Brain (Nervous System)
             GABA neuron-like cells
     
     Pancreas (Endocrine System)
     
     Kidney (Urinary System)
    KLK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLK1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including KLK1: 
              Nephrotoxicity in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for KLK1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat KLK1
    QuantiTect SYBR Green Assays in human, mouse, rat KLK1
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KLK1 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    40(a)
    1 → many
    GL343514.1(217681-240007)
            Species with no ortholog for KLK1

    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)
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    Paralogs for KLK1 gene
    KLK102  ENSG000002697412  KLK42  PRSS372  KLK112  KLK72  KLK142  KLK92  
    KLK122  KLK132  KLK62  KLK22  KLK152  KLK52  PRSS12  PRSS582  
    PRSS32  KLK82  KLK32  
    Selected 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    KLK13    KLK6    PRSS2    PRSS3    DKFZp586F0824
    KLK5    KLK12    PRSS1    KLK10    KLK4    KLK15

    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), 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 KLK1 (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
    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 147910    OMIM disorders: --

    Selected diseases for KLK1 (see all 35):    
    About MalaCards
    hereditary angioedema    vascular dementia    vesicoureteral reflux    angioedema
    intracranial aneurysm    abdominal aortic aneurysm    temporal lobe epilepsy    aortic aneurysm
    lupus nephritis    nephritis    childhood leukemia    dementia
    nasopharyngitis    colon adenocarcinoma    essential hypertension    meningioma
    hypertension    ovarian cancer    renal cell carcinoma    cerebritis

    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)
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    PubMed articles for KLK1 gene, integrated from 10 sources (see all 143):
    (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. (Kidney Int. 2004)
    2. Association of the tissue kallikrein gene promoter with ESRD and hypertension. (PubMed id 11849458)1, 4, 9 Yu H....Bowden D.W. (Kidney Int. 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. (Genomics 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. (J. Hypertens. 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. (J. Rheumatol. 2010)
    6. Genetic analysis of 22 candidate genes for hypertension in the Japanese population. (PubMed id 15167446)1, 4, 9 Iwai N....Shioji K. (J. Hypertens. 2004)
    7. [Association of single nucleotide polymorphisms of kallikrein 1 gene with cerebral hemorrhage in Changsha Han Chinese]. (PubMed id 20533273)1, 4 Zeng Y....Hu Z.P. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010)
    8. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    9. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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: 3816 HGNC: 6357 AceView: KLK1 Ensembl:ENSG00000167748 euGenes: HUgn3816
    ECgene: KLK1 Kegg: 3816 H-InvDB: KLK1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    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

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    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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