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FLASH GENE
Symbol SERPINB6 contributors: mct/npt - updated : 10-04-2010
HGNC name serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6
HGNC id 8950
Corresponding disease
DFNB91 neurosensory deafness 91
Location 6p25.2      Physical location : 2.948.393 - 2.972.399
Synonym name
  • protease inhibitor 6
  • placental thrombin inhibitor
  • cytoplasmic antiproteinase
  • Synonym symbol(s) PI6, CAP, PTI, FTI6, MSTP057, MGC111370, DKFZp686I04222
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text clustered with PI9, ELANH2
    STRUCTURE 23.70 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - SERPINB6 - SERPINB9 - SERPINB1 - cen
    Authors Scott (99)
    Physical map
    LOC285770 6p25.2 similar to FLJ00254 protein C6orf195 6p25.2 chromosome 6 open reading frame 195 LOC340156 6p25.2 hypothetical protein LOC340156 WRNIP1 6p24.3 Werner helicase interacting protein 1 SERPINB1 6p25 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1 SERPINB9 6p25 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9 SERPINB6 6p25 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6 NQO2 6p25-p24.3 NAD(P)H dehydrogenase, quinone 2 LOC391864 6 similar to HIV TAT specific factor 1; cofactor required for Tat activation of HIV-1 transcription LOC221754 6p25.2 similar to dJ40E16.3 (novel gene similar to D. melanogaster CG5327 ) RIPK1 6p25.3-p24.1 receptor (TNFRSF)-interacting serine-threonine kinase 1 BPHL 6p25 biphenyl hydrolase-like (serine hydrolase; breast epithelial mucin-associated antigen) TUBB 6p21.3 tubulin, beta polypeptide MGC8685 6p25 tubulin, beta polypeptide paralog LOC389362 6 LOC389362 C6orf85 6p25.2 chromosome 6 open reading frame 85 DKFZP434F011 6p25.2-p25.1 ion transporter protein C6orf145 6p25.1 chromosome 6 open reading frame 145 D6S2654E 6pter DNA segment on chromosome 6(unique) 2654 expressed sequence LOC389363 6 hypothetical gene supported by AF118652; NM_006541
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1665 - 376 - Scott (2007)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Endocrinepancreas    
    Hearing/Equilibriumearinner  highly
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmonocyte
    Blood/Hematopoieticneutrophil
    Blood/Hematopoieticplatelet
    Cardiovascularendothelial cell
    Hearing / Equilibriumcochlea cell
    Skin/Tegumentkeratinocyte
    cell lineage mast cells
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • high molecular weight
  • HOMOLOGY
    intraspecies homolog to the genes of the serpin cluster on chromosome 18 (SPI@2),highly
    Homologene
    FAMILY
  • serpin family, ovalbumin subgroup
  • Ov-serpin subfamily
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • placental thrombin inhibitor
  • cytoplasmic antiprotease
  • playing a role in mast cells, to regulate the activity of endogenous beta-tryptase in the cytoplasm
  • possible role of the SERPINB6 family members in gonad development, gametogenesis, and/or fertilization (Charron 2006)
  • intracellular serpin produced by leukocytes, platelets, endothelial cells, keratinocytes and other epithelial cells that is a potent cathepsin G inhibitor (Scott 2007)
  • protects the intracellular compartment of keratinocytes from ectopic KLK8 (Scott 2007)
  • plays an important role in the inner ear in the protection against leakage of lysosomal content during stress and that loss of this protection results in cell death and sensorineural hearing loss (Sirmaci 2010)
  • potent inhibitor of the monocyte/granulocyte protease cathepsin G, which is stored in azurophilic granules and then released into phagolysosomes or secreted during inflammation (Sirmaci 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • complexing with kallikrein 2 in prostate cancer tissue
  • inhibits th serine protease kallikrein-8 (KLK8) (in human and mouse skin, SERPINB6 and kallikrein-8 co-localize in differentiated keratinocyte) (Scott 2007)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB91
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS