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FLASH GENE
Symbol KLKB1 contributors: mct/npt - updated : 08-07-2009
HGNC name kallikrein B, plasma (Fletcher factor) 1
HGNC id 6371
Corresponding disease
KLKB1D Fletcher factor deficiency
Location 4q35.2      Physical location : 187.148.671 - 187.179.624
Synonym name
  • kininogenin
  • plasma kallikrein B1
  • Synonym symbol(s) KLK3, HMWK, PPK
    EC.number 3.4.21.34
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, head to head
    STRUCTURE 30.95 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC285435 4q35.1 hypothetical LOC285435 LOC391723 4 similar to Heslike SLC25A4 4q35 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 KIAA1430 4q35.1 KIAA1430 protein SNX25 4q35.1 sorting nexin 25 DKFZp761O0113 4q35.1 hypothetical protein DKFZp761O0113 Lrp2bp 4q35.1 low density lipoprotein receptor-related protein binding protein FLJ11200 4q35.1 hypothetical protein FLJ11200 MGC33607 4q35.1 hypothetical protein MGC33607 ALP LOC391724 4 similar to glycine-rich protein ARGBP2 4q35.1 similar to glycine-rich protein PRO0618 4q35.1 PRO0618 protein TLR3 4q35 toll-like receptor 3 DKFZP564J102 4q35.1 DKFZP564J102 protein LOC285440 4q35.1 hypothetical protein LOC285440 KLKB1 4q35 kallikrein B, plasma (Fletcher factor) 1 F11 4q35 coagulation factor XI (plasma thromboplastin antecedent) LOC391725 4 similar to solute carrier family 25, member 5; adenine nucleotide translocator 2, fibroblast isoform (ATP-ADP carrier protein) MTNR1A 4q35.1 melatonin receptor 1A FAT 4q34-q35 FAT tumor suppressor homolog 1 (Drosophila) MRPS36P2 4q35.1 mitochondrial ribosomal protein S36 pseudogene
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2252 - 638 - Hooley (2007)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveepithelial cell
    Digestivehepatocyte
    Endocrineislet cell (alpha,beta...)
    Reproductivegranulosa cell
    ReproductiveLeydig cell
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    physiological period embryo
    Text in multiple different progenitor-derived cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal peptide
  • an heavy chain (371AA), a light chain (248AA) held by disulfide bond after cleavage
  • a catalytic domain in light chain with four tandem repeat sequences (apple domain, binding to the C-terminal domain (D6(H)) of high-molecular weight KNG1 (HMWK)) (Katsuda 2007)
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • peptidase S1 family
  • plasma kallikrein subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • serine protease, cleaving bonds in kininogen to produce bradykinin
  • activating coagulation factors F12 and F7 in contact activation pathway
  • catalyzes the release of kinins and other vasoactive peptides and may be involved in the pathogenesis of hypertension
  • plays a central role in the contact system that activates blood coagulation and is involved in the regulation of blood pressure (Hooley 2007)
  • synthesised in hepatocytes and secreted into the blood, where it participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation (Fink 2007)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS coagulation/hemostasis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with KNG1 (HMWK) that may play a crucial role in the first step of blood coagulation (Katsuda 2007)
  • activating F2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) KLKB1D
    Susceptibility to hypertension
    Variant & Polymorphism other The Hap1 (AGAC) and Hap3 (CGAC)polymorphisms, significantly increase the risk of essential hypertension. Among the drinkers, the association between Hap1 and hypertension became stronger
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS