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

KNG1 Gene

protein-coding   GIFtS: 68
GCID: GC03P186435

Kininogen 1

(Previous name: kininogen)
(Previous symbols: KNG, BDK)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Kininogen 11 2     High Molecular Weight Kininogen2 3
KNG1 2 3 5     Williams-Fitzgerald-Flaujeac Factor2 3
BDK1 2 3     HMWK2 3
Alpha-2-Thiol Proteinase Inhibitor1 2 3     kininogen1
bradykinin1 2     BK2
Fitzgerald Factor2 3     kininogen-12

External Ids:    HGNC: 63831   Entrez Gene: 38272   Ensembl: ENSG000001138897   OMIM: 6123585   UniProtKB: P010423   

Export aliases for KNG1 gene to outside databases

Previous GC identifers: GC03P187757 GC03P187917 GC03P183844


(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 KNG1 Gene:
This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and
low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the
kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from
HMWK. In contrast to HMWK, LMWK is not involved in blood coagulation. Three transcript variants encoding
different isoforms have been found for this gene.(provided by RefSeq, Oct 2009)

GeneCards Summary for KNG1 Gene: 
KNG1 (kininogen 1) is a protein-coding gene. Diseases associated with KNG1 include kininogen deficiency, and high molecular weight kininogen deficiency, and among its related super-pathways are ACE Inhibitor Pathway and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include cysteine-type endopeptidase inhibitor activity and receptor binding.

UniProtKB/Swiss-Prot: KNG1_HUMAN, P01042
Function: (1) Kininogens are inhibitors of thiol proteases; (2) HMW-kininogen plays an important role in blood
coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; (3) HMW-kininogen
inhibits the thrombin- and plasmin-induced aggregation of thrombocytes; (4) the active peptide bradykinin that is
released from HMW-kininogen shows a variety of physiological effects: (4A) influence in smooth muscle
contraction, (4B) induction of hypotension, (4C) natriuresis and diuresis, (4D) decrease in blood glucose level,
(4E) it is a mediator of inflammation and causes (4E1) increase in vascular permeability, (4E2) stimulation of
nociceptors (4E3) release of other mediators of inflammation (e.g. prostaglandins), (4F) it has a
cardioprotective effect (directly via bradykinin action, indirectly via endothelium-derived relaxing factor
action); (5) LMW-kininogen inhibits the aggregation of thrombocytes; (6) LMW-kininogen is in contrast to
HMW-kininogen not involved in blood clotting

summary for KNG1 Gene:
Bradykinin and related kinins are a family of small peptides which act as mediators of inflammation and
pain. They exert a variety of biological effects on the endothelium and peripheral circulation through their
action on two G-protein-coupled bradykinin receptor subtypes, the B1 receptor and the B2 receptor.
Bradykinin is an important pro-inflammatory molecule that causes vasodilation, plasma protein extravasation,
smooth muscle contraction and pain.

Gene Wiki entry for KNG1 (Kininogen 1) 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_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KNG1 gene promoter:
         SRF   C/EBPbeta   SRF (504 AA)   HTF   FOXD3   HNF-3beta   AREB6   Chx10   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKNG1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KNG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KNG1


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

Entrez Gene cytogenetic band: 3q27   Ensembl cytogenetic band:  3q27.3   HGNC cytogenetic band: 3q27.3

KNG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KNG1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P186435:  view genomic region     (about GC identifiers)

Start:
186,435,065 bp from pter      End:
186,462,199 bp from pter
Size:
27,135 bases      Orientation:
plus 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: KNG1_HUMAN, P01042 (See protein sequence)
Recommended Name: Kininogen-1 precursor  
Size: 644 amino acids; 71957 Da
Subcellular location: Secreted, extracellular space
5 PDB 3D structures from and Proteopedia for KNG1:
2WOK (3D)        4ASQ (3D)        4ASR (3D)        4ECB (3D)        4ECC (3D)    
Secondary accessions: A8K474 B2RCR2 C9JEX1 P01043 Q53EQ0 Q6PAU9 Q7M4P1
Alternative splicing: 3 isoforms:  P01042-1   P01042-2   P01042-3   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for KNG1: NX_P01042

Explore proteomics data for KNG1 at MOPED 

Post-translational modifications:

  • UniProtKB: Bradykinin is released from kininogen by plasma kallikrein
  • UniProtKB: Hydroxylation of Pro-383 occurs prior to the release of bradykinin
  • UniProtKB: Phosphorylation sites are present in the extracellular medium
  • UniProtKB: N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P01042

  • KNG1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KNG1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000884.1  NP_001095886.1  NP_001159923.1  

    ENSEMBL proteins: 
     ENSP00000287611   ENSP00000265023   ENSP00000396025  
    Reactome Protein details: P01042
    Human Recombinant Protein Products for KNG1: 
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    OriGene Purified Protein for KNG1
    OriGene Protein Over-expression Lysate for KNG1
    OriGene MassSpec for KNG1 
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    GenScript Custom Purified and Recombinant Proteins Services for KNG1
    Novus Biologicals KNG1 Proteins
    Novus Biologicals KNG1 Lysates
    Sino Biological Recombinant Protein for KNG1
    Sino Biological Cell Lysate for KNG1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KNG1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane TAS--
    GO:0031093platelet alpha granule lumen TAS--

    KNG1 for ontologies           About GeneDecksing



    KNG1 Antibody Products: 
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    Abcam antibodies for KNG1
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    ThermoFisher Antibody for KNG1
    LSBio Antibodies in human, mouse, rat for KNG1 

    Assay Products for KNG1: 
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    Enzo Life Sciences assays for KNG1
    Cloud-Clone Corp. ELISAs for KNG1 
    Cloud-Clone Corp. CLIAs for KNG1


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

    4 InterPro protein domains:
     IPR027358 Kininogen-type_cystatin_dom
     IPR018073 Prot_inh_cystat_CS
     IPR000010 Prot_inh_cystat
     IPR002395 Kininogen

    Graphical View of Domain Structure for InterPro Entry P01042

    ProtoNet protein and cluster: P01042

    2 Blocks protein domains:
    IPB000010 Cysteine protease inhibitor
    IPB002395 HMW kininogen signature


    UniProtKB/Swiss-Prot: KNG1_HUMAN, P01042
    Similarity: Contains 3 cystatin kininogen-type domains


    KNG1 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: KNG1_HUMAN, P01042
    Function: (1) Kininogens are inhibitors of thiol proteases; (2) HMW-kininogen plays an important role in blood
    coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; (3) HMW-kininogen
    inhibits the thrombin- and plasmin-induced aggregation of thrombocytes; (4) the active peptide bradykinin that is
    released from HMW-kininogen shows a variety of physiological effects: (4A) influence in smooth muscle
    contraction, (4B) induction of hypotension, (4C) natriuresis and diuresis, (4D) decrease in blood glucose level,
    (4E) it is a mediator of inflammation and causes (4E1) increase in vascular permeability, (4E2) stimulation of
    nociceptors (4E3) release of other mediators of inflammation (e.g. prostaglandins), (4F) it has a
    cardioprotective effect (directly via bradykinin action, indirectly via endothelium-derived relaxing factor
    action); (5) LMW-kininogen inhibits the aggregation of thrombocytes; (6) LMW-kininogen is in contrast to
    HMW-kininogen not involved in blood clotting

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004869cysteine-type endopeptidase inhibitor activity IEA--
    GO:0005102receptor binding IPI11290596
    GO:0005515protein binding IPI--
    GO:0008201heparin binding NAS12911595
    GO:0008270zinc ion binding NAS12911595
         
    KNG1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KNG1:
     Decreased influenza A/WSN/33 r  Decreased viability with pacli 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Kng1):
     homeostasis/metabolism 

    KNG1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kng1tm1Krmc for KNG1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KNG1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KNG1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KNG1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KNG1 

    miRNA
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate KNG1 (see all 10):
    hsa-miR-379 hsa-miR-361-5p hsa-miR-3655 hsa-miR-449c* hsa-miR-488 hsa-miR-3074-3p hsa-miR-578 hsa-miR-942
    SwitchGear 3'UTR luciferase reporter plasmidKNG1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    Sino Biological Human cDNA Clone for KNG1
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                         Customized lentivirus expression plasmids for stable overexpression of KNG1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KNG1


    (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 KNG1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    ACE Inhibitor Pathway0.85
    ACE Inhibitor Pathway, Pharmacodynamics0.85
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics0.85
    2Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.59
    Blood Coagulation Signaling Pathways0.51
    Intrinsic Pathway0.59
    3Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    4Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)0.71
    Peptide ligand-binding receptors0.60
    GPCR ligand binding0.71
    G alpha (i) signalling events0.46
    5Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for KNG1
        Blood Coagulation Signaling Pathways


    4 BioSystems Pathways for KNG1
        ACE Inhibitor Pathway
    Complement and Coagulation Cascades
    Syndecan-2-mediated signaling events
    amb2 Integrin signaling


    5/15        Reactome Pathways for KNG1 (see all 15)
        GPCR downstream signaling
    Hemostasis
    Peptide ligand-binding receptors
    Gastrin-CREB signalling pathway via PKC and MAPK
    Intrinsic Pathway

    2 PharmGKB Pathways for KNG1
        ACE Inhibitor Pathway, Pharmacodynamics
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for KNG1):
        Complement and coagulation cascades


    KNG1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KNG1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/314 Interacting proteins for KNG1 (P010421, 2, 3 ENSP000002650234) via UniProtKB, MINT, STRING, and/or I2D (see all 314)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    F11P039513, ENSP000002646914I2D: score=2 STRING: ENSP00000264691
    FTLP027923, ENSP000003665254I2D: score=2 STRING: ENSP00000366525
    ITGB2P051073, ENSP000003032424I2D: score=2 STRING: ENSP00000303242
    KLKB1P039523, ENSP000002646904I2D: score=2 STRING: ENSP00000264690
    PLAURQ034053, ENSP000003393284I2D: score=2 STRING: ENSP00000339328
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0006939smooth muscle contraction TAS11385996
    GO:0006954inflammatory response TAS11385996
    GO:0007162negative regulation of cell adhesion IDA11970955
    GO:0007204elevation of cytosolic calcium ion concentration IDA16014619

    KNG1 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

    KNG1 for compounds           About GeneDecksing

    EMD Millipore small molecules for KNG1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for KNG1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    HOE 140Potent and selective B2 antagonist[138614-30-9]
    WIN 64338 hydrochlorideBradykinin B2 antagonist[151039-63-3]
    R 715Potent and selective B1 antagonist[185052-09-9]
    Lys-[Des-Arg9]BradykininSelective B1 agonist[71800-36-7]
    BradykininEndogenous agonist at bradykinin receptors (B2 > B1)[6846-03-3]

    1 HMDB Compound for KNG1    About this table
    CompoundSynonyms CAS #PubMed Ids
    BradykininCallidin I (see all 5)58-82-2--

    10/142 Novoseek inferred chemical compound relationships for KNG1 gene (see all 142)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kininogen 91.2 146 9576999 (4), 11156092 (2), 11237764 (2), 8388750 (2) (see all 99)
    kallidin 90.5 129 2174657 (7), 8759196 (7), 8519379 (7), 1338489 (6) (see all 62)
    icatibant 87.8 36 9139696 (3), 7833220 (3), 16226247 (2), 11104833 (2) (see all 26)
    des-arg(10)-kallidin 85.5 23 12372905 (3), 7495867 (2), 9657256 (2), 12676165 (2) (see all 18)
    histamine 82 525 8511729 (14), 9174646 (8), 9666826 (7), 8818341 (7) (see all 99)
    enalaprilat 79.5 45 18180402 (3), 10082496 (3), 17716647 (3), 12566370 (3) (see all 25)
    nitric oxide 77.7 578 11791011 (5), 8818341 (4), 9890715 (4), 19950773 (4) (see all 99)
    sodium nitroprusside 77.2 197 9797190 (5), 8698436 (4), 7615016 (3), 11356600 (3) (see all 99)
    fr190997 76.4 15 15140628 (3), 11104833 (2), 12970081 (1), 9224807 (1) (see all 6)
    fr173657 76 8 11104833 (3), 14757160 (1), 15140628 (1), 10204994 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about KNG1

    (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 KNG1 gene (3 alternative transcripts): 
    NM_000893.3  NM_001102416.2  NM_001166451.1  

    Unigene Cluster for KNG1:

    Kininogen 1
    Hs.77741  [show with all ESTs]
    Unigene Representative Sequence: NM_001102416
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000287611(uc003fqr.3 uc021xil.1) ENST00000265023(uc011bsa.2)
    ENST00000447445
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KNG1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KNG1
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KNG1

    Additional mRNA sequence: 

    AK223589.1 AK290839.1 AK298440.1 AK303768.1 AK315230.1 BC026253.1 BC060039.1 K02566.1 

    11 DOTS entries:

    DT.86852188  DT.95261935  DT.92462290  DT.100829054  DT.101983292  DT.304009  DT.100829050  DT.95081498 
    DT.92462321  DT.100679781  DT.95138875 

    24/169 AceView cDNA sequences (see all 169):

    CB135222 CB164443 CB148843 CB137701 CR606410 R08394 CB147169 CR590667 
    CB122248 AI913254 CR591010 CB156861 CB121440 AI133186 CB137719 CB138536 
    CB147381 CB134907 CB135794 AI795915 AA705692 R89166 AV647770 CB146919 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KNG1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
    SP1:                                                              -                                       
    SP2:                                                  -           -                                       
    SP3:                                -     -                                                               


    ECgene alternative splicing isoforms for KNG1

    (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

    KNG1 expression in normal human tissues (normalized intensities)      KNG1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCAAGGAA
    KNG1 Expression
    About this image


    KNG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Liver (Hepatobiliary System)
             Human Hepatocyte (HH)   
     
     Kidney (Urinary System)
             kidney ; cells in tubules   
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Placenta (Extraembryonic Tissues)

    See KNG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KNG1

    SOURCE GeneReport for Unigene cluster: Hs.77741

    UniProtKB/Swiss-Prot: KNG1_HUMAN, P01042
    Tissue specificity: Secreted in plasma. T-kinin is detected in malignant ovarian, colon and breast carcinomas, but
    not in benign tumors

        SABiosciences Expression via Pathway-Focused PCR Arrays including KNG1: 
              Hypertension in human mouse rat
              Inflammatory Response & Autoimmunity in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    (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 chordates.

    Orthologs for KNG1 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kng11 , 5 kininogen 11, 5 72.58(n)1
    60.6(a)1
      16 (13.88 cM)5
    166441  NM_001102411.11  NP_001095881.11 
     230578655 
    chicken
    (Gallus gallus)
    Aves KNG11 kininogen 1 53.21(n)
    39.64(a)
      424957  XM_422766.3  XP_422766.2 
    lizard
    (Anolis carolinensis)
    Reptilia KNG16
    Uncharacterized protein
    36(a)
    1 ↔ 1
    GL343321.1(147308-173846)
    zebrafish
    (Danio rerio)
    Actinopterygii kng16
    kininogen 1
    23(a)
    1 ↔ 1
    22(39721702-39758755)


    ENSEMBL Gene Tree for KNG1 (if available)
    TreeFam Gene Tree for KNG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KNG1 gene
    1 SIMAP similar gene for KNG1 using alignment to 4 protein entries:     KNG1_HUMAN (see all proteins):
    CST7

    KNG1 for paralogs           About GeneDecksing



    (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

    UniProtKB/Swiss-Prot: KNG1_HUMAN, P01042
    Polymorphism: The T-kinin peptide is missing residues 378 to 380, probably as a result of a naturally occurring
    variant. The complete sequence of the T-kinin peptide is therefore ISRPPGFSPFR. This peptide is associated with
    malignant tumors but not with benign ones


    10/922 SNPs in KNG1 are shown (see all 922)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs119243901,2
    C,F,H--186433099(+) TCACAT/CAAAAA 3 -- us2k114Minor allele frequency- C:0.39EA NS NA WA CSA 678
    rs1835442491,2
    --186433140(+) AATACA/GATTTG 3 -- us2k10--------
    rs1504767811,2
    --186433148(+) TTGGCA/GGAAAA 3 -- us2k10--------
    rs1888730541,2
    --186433152(+) CAGAAA/GAGTAA 3 -- us2k10--------
    rs1922093841,2
    --186433259(+) TTAGAC/TATAGC 3 -- us2k10--------
    rs1824213211,2
    --186433345(+) AGTTCA/GAGACC 3 -- us2k10--------
    rs1385225201,2
    --186433372(+) TGAAAC/TCTCGT 3 -- us2k10--------
    rs1427061381,2
    C--186433384(+) TCTTCC/TAAAAA 3 -- us2k10--------
    rs622926411,2
    C,F--186433418(+) GGCAGA/TCCCCT 3 -- us2k13Minor allele frequency- T:0.17WA NA 6
    rs37742911,2
    C,F,A,H--186433471(+) TAACCC/TGGGAA 3 -- us2k19Minor allele frequency- T:0.41EA NS WA NA 550

    HapMap Linkage Disequilibrium report for KNG1 (186435065 - 186462199 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for KNG1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2661616CNV Deletion23128226
    esv2669790CNV Deletion23128226
    nsv878070CNV Loss21882294
    nsv878069CNV Loss21882294
    esv34136CNV Loss18971310
    nsv878068CNV Gain21882294
    dgv1541e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): KNG1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KNG1
    DNA2.0 Custom Variant and Variant Library Synthesis for KNG1

    (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: 612358   
    OMIM disorders: 228960  
    UniProtKB/Swiss-Prot: KNG1_HUMAN, P01042
  • High molecular weight kininogen deficiency (HMWK deficiency) [MIM:228960]: Autosomal recessive
    coagulation defect. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal
    surface-mediated activation of fibrinolysis. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/147 diseases for KNG1 (see all 147):    About MalaCards
    kininogen deficiency    high molecular weight kininogen deficiency    brain edema    c1 inhibitor deficiency
    plasminogen activator inhibitor type 1 deficiency    diffuse scleroderma    whiplash    streptococcal toxic-shock syndrome
    renal hypertension    angioedema    pulpitis    hereditary angioedema
    retinal ischemia    renovascular hypertension    rhinitis    impotence
    factor xii deficiency    pain agnosia    carcinoid syndrome    radiculopathy

    18 diseases from the University of Copenhagen DISEASES database for KNG1:
    Urticaria     Hypertension     Heart disease     C1 inhibitor deficiency
    Pleurisy     Asthma     Neuroblastoma     Atherosclerosis
    Kidney disease     Diabetes mellitus     Malignant glioma     Rhinitis
    Pancreatitis     Brain edema     Pain agnosia     Cerebrovascular accident
    Arthritis     Gastrointestinal system disease

    KNG1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/94 Novoseek inferred disease relationships for KNG1 gene (see all 94)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    angioedema 80.9 113 12639808 (7), 2185292 (3), 9530537 (3), 12222554 (2) (see all 59)
    angioedema, hereditary 79.5 25 18220146 (2), 17418383 (2), 20377108 (2), 18814451 (2) (see all 19)
    anaphylactoid reaction 66 17 8268545 (3), 8141183 (3), 7623993 (2), 2266684 (1) (see all 11)
    inflammation 59.1 144 8542147 (3), 18783336 (3), 11471646 (2), 8648021 (2) (see all 99)
    venous occlusion 59.1 25 10927043 (2), 9336392 (1), 11196511 (1), 7505360 (1) (see all 24)
    heart failure 54.8 45 18798730 (4), 11684627 (4), 10411851 (3), 10489393 (3) (see all 24)
    hyperalgesia 53.3 40 1752117 (6), 1491860 (5), 10422653 (4), 10640624 (4) (see all 24)
    essential hypertension 48.6 17 19289643 (2), 11355044 (2), 8562274 (1), 10560792 (1) (see all 13)
    cardiovascular diseases 47.3 17 11975815 (3), 17212359 (1), 16023651 (1), 10952948 (1) (see all 15)
    asthma 46.3 94 9762778 (4), 1970226 (3), 7597662 (3), 2127257 (2) (see all 62)

    Genetic Association Database (GAD): KNG1
    Human Genome Epidemiology (HuGE) Navigator: KNG1 (13 documents)

    Export disorders for KNG1 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 KNG1 gene, integrated from 9 sources (see all 2276):
    (articles sorted by number of sources associating them with KNG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal mapping of human kininogen gene (KNG) to 3q26----qter. (PubMed id 1733668)1, 3, 9 Cheung P.P....Colman R.W. (1992)
    2. Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time. (PubMed id 20303064)1, 4 Houlihan L.M....Deary I.J. (2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1-ADIPO Q. (PubMed id 20876611)1, 4 Wu Y....Mohlke K.L. (2010)
    5. 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)
    6. Genetic variation in angiotensin-converting enzyme-re lated pathways associated with sudden cardiac arrest risk. (PubMed id 19716087)1, 4 Sotoodehnia N....Siscovick D.S. (2009)
    7. Gender-specific association between the kininogen 1 gene variants and essential hypertension in Chinese Han population. (PubMed id 19330902)1, 4 Zhao W....Gu D. (2009)
    8. Kininogen gene (KNG) variation has a consistent effec t on aldosterone response to antihypertensive drug therapy: the GERA study. (PubMed id 19584173)1, 4 Barbalic M....Boerwinkle E. (2009)
    9. The rationale and design of the PERindopril GENEtic association study (PERGENE): a pharmacogenetic analysis of angiotensin-converting enzyme inhibitor therapy in patients with stable coronary artery disease. (PubMed id 19082699)1, 4 Brugts J.J....Simoons M.L. (2009)
    10. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (2008)

    (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: 3827 HGNC: 6383 AceView: KNG1 Ensembl:ENSG00000113889 euGenes: HUgn3827
    ECgene: KNG1 Kegg: 3827 H-InvDB: KNG1

    (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 KNG1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/High-molecular_weight_kininogen
    SeattleSNPshttp://pga.gs.washington.edu/data/kng/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KNG1 gene:
    Search GeneIP for patents involving KNG1

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



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