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FLASH GENE
Symbol F12 contributors: mct/npt - updated : 15/09/2008
HGNC name coagulation factor XII (Hageman factor)
HGNC id 3530
DNA
TYPE functioning gene
STRUCTURE 7.44 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   hormone   HRE
text structure estrogen-responsive elements in the promoter region
MAPPING cloned Y linked N status confirmed
Physical map
KIAA1893 5q35.3 G protein-regulated inducer of neurite outgrowth 1 SNCB 5q35 synuclein, beta LOC253314 5q35.3 similar to eukaryotic translation initiation factor eIF4E-1 MGC14859 5q35.3 hypothetical protein MGC14859 LOC389348 5 LOC389348 KIAA1976 5q35.3 netrin receptor Unc5h1 HK3 5q35.2-q35.3 hexokinase 3 (white cell) RAP80 5q35.3 receptor associated protein 80 JAZ 5q35.3 double-stranded RNA-binding zinc finger protein JAZ FGFR4 5q35.3 fibroblast growth factor receptor 4 NSD1 5q35.1-q35.3 nuclear receptor binding SET domain protein 1 RAB24 5q35.3 RAB24, member RAS oncogene family PX19 5q35.3 px19-like protein MXD3 5q35.3 MAX dimerization protein 3 LMAN2 5q35 lectin, mannose-binding 2 RGS14 5q35.3 regulator of G-protein signalling 14 SLC34A1 5q35.1 solute carrier family 34 (sodium phosphate), member 1 LOC345456 5q35.3 similar to profilin 3 F12 5q35.1 coagulation factor XII (Hageman factor) GPRK6 5q35 G protein-coupled receptor kinase 6 MGC10772 5q35.3 hypothetical protein MGC10772 DBN1 5q35.3 drebrin 1 FLJ22570 5q35.3 Dok-like protein DDX41 5q35.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 HSGP25L2G 5q35.3 gp25L2 protein LOC391854 5 similar to Beta-1,4-galactosyltransferase 7 (Beta-1,4-GalTase 7) (Beta4Gal-T7) (b4Gal-T7) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7) ENIGMA 5q34-q35 similar to Beta-1,4-galactosyltransferase 7 (Beta-1,4-GalTase 7) (Beta4Gal-T7) (b4Gal-T7) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7) FLJ10404 5q35.3 hypothetical protein FLJ10404 B4GALT7 5q35.2-q35.3 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) LOC202181 5q35.3 hypothetical protein LOC202181 NY-REN-7 5q35.3 NY-REN-7 antigen LOC391855 5 similar to olfactory receptor MOR126-1 LOC389349 5 hypothetical gene supported by NM_032361 LOC285647 5q35.3 similar to FLJ00052 protein PROP1 5q11.2 prophet of Pit1, paired-like homeodomain transcription factor LOC389350 5 similar to KIAA0752 protein LOC285658 5q35.3 similar to 60S ribosomal protein L19
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 2060 - 615 - -
  • a 19 aa signal peptide of 2.1 kda
  • alpha-factor XIIa heavy chain (a 353 aa petide of 39.6 kda, from 20 to 372 aa)
  • beta-factor XIIa light chain (a 9 aa petide of 0.9 kda, from 354 to 362 aa)
  • alpha-factor XIIa light chain (a 243 aa petide of 26.1 kda, from 373 to 615 aa)
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     liver    
    Respiratorylung    
    cell lineage
    cell lines
    fluid/secretion serum
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a fibronectin type II domain
  • a fibronectin type I domain
  • two EGF-like domains
  • a cysteine-rich kringle domain,
  • a proline-rich domain
  • a serine protease (peptidase S1) domains
  • conjugated GlycoP
    isoforms Precursor zymogen
    HOMOLOGY
    interspecies homolog to rattus F12 (73.5 pc)
    homolog to murine F12 (72.2 pc)
    Homologene
    FAMILY
  • peptidase S1 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • serine protease, participating in the initiation of blood
  • coagulation, fibrinolysis, and the generation of bradykinin and angiotensin
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS coagulation/hemostasis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cleaving prekellikrein
  • activating FVII, FXI
  • cell & other
    REGULATION
    activated by cleavage producing a heavy and a light (catalytic) chains
    Other positively regulated by estrogens
    ASSOCIATED DISORDERS
    corresponding disease(s) F12 , HAE3
    Susceptibility to shortening of the activated partial thromboplastin time (aPTT)
    Variant & Polymorphism SNP s2731672 increasing the risk of aPTT (Houlihan 2010)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS