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    KNG1 kininogen 1 [ Homo sapiens (human) ]

    Gene ID: 3827, updated on 30-Jun-2015
    Official Symbol
    KNG1provided by HGNC
    Official Full Name
    kininogen 1provided by HGNC
    Primary source
    HGNC:HGNC:6383
    See related
    HPRD:01970; MIM:612358
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BK; BDK; KNG
    Summary
    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. Bradykinin also functions as an antimicrobial peptide with antibacterial and antifungal activity. 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, Nov 2014]
    Orthologs
    See KNG1 in Epigenomics, MapViewer
    Location:
    3q27
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (186717309..186744410)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186435098..186462199)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374258 Neighboring gene histidine-rich glycoprotein Neighboring gene histidine-rich glycoprotein pseudogene Neighboring gene uncharacterized LOC105374259 Neighboring gene proteasome 26S subunit, non-ATPase, 10 pseudogene 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    High molecular weight kininogen deficiency
    MedGen: C0272340 OMIM: 228960 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.
    NHGRI GWA Catalog
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    NHGRI GWA Catalog
    Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1-ADIPOQ.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heparin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    blood coagulation, intrinsic pathway TAS
    Traceable Author Statement
    more info
     
    inflammatory response TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of blood coagulation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet activation TAS
    Traceable Author Statement
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of cytosolic calcium ion concentration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of renal sodium excretion TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of urine volume TAS
    Traceable Author Statement
    more info
    PubMed 
    smooth muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    vasodilation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    kininogen-1
    Names
    HMWK
    alpha-2-thiol proteinase inhibitor
    bradykinin
    fitzgerald factor
    high molecular weight kininogen
    williams-Fitzgerald-Flaujeac factor

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016009.1 RefSeqGene

      Range
      5001..32102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000893.3NP_000884.1  kininogen-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_000884.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (2), also known as low molecular weight preprokininogen, has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC109780, AC112907, DC362362, K02566
      Consensus CDS
      CCDS3281.1
      UniProtKB/Swiss-Prot
      P01042
      Conserved Domains (1) summary
      cd00042
      Location:266370
      CY; Cystatin-like domain; Cystatins are a family of cysteine protease inhibitors that occur mainly as single domain proteins. However some extracellular proteins such as kininogen, His-rich glycoprotein and fetuin also contain these domains.
    2. NM_001102416.2NP_001095886.1  kininogen-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001095886.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1), also known as high molecular weight preprokininogen.
      Source sequence(s)
      AC109780, AC112907, DC362362, K02566
      Consensus CDS
      CCDS43183.1
      UniProtKB/Swiss-Prot
      P01042
      Conserved Domains (1) summary
      cd00042
      Location:266370
      CY; Cystatin-like domain; Cystatins are a family of cysteine protease inhibitors that occur mainly as single domain proteins. However some extracellular proteins such as kininogen, His-rich glycoprotein and fetuin also contain these domains.
    3. NM_001166451.1NP_001159923.1  kininogen-1 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice pattern in the 3' coding region and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus and lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC112907, CD014130, DC362362
      Consensus CDS
      CCDS54695.1
      UniProtKB/Swiss-Prot
      P01042
      Conserved Domains (1) summary
      cd00042
      Location:230334
      CY; Cystatin-like domain; Cystatins are a family of cysteine protease inhibitors that occur mainly as single domain proteins. However some extracellular proteins such as kininogen, His-rich glycoprotein and fetuin also contain these domains.

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

      Range
      186717309..186744410
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      186399036..186425781
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)