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FLASH GENE
Symbol KEL contributors: mct/npt - updated : 03-03-2009
HGNC name Kell blood group, metallo-endopeptidase
HGNC id 6308
Corresponding disease
KEL Kell blood group
Location 7q33      Physical location : 142.638.202 - 142.659.503
Synonym name
  • Kell blood group
  • Kell blood group glycoprotein
  • CD238 antigen
  • Synonym symbol(s) CD238, ECE3, KEL1
    EC.number 3.4.24.11
    DNA
    TYPE functioning gene
    STRUCTURE 21.30 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 2562 82.8 732 - Claperon (2007))
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen    
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
  • erythroid cells
  • transcribed in bone marrow-derived mesenchymal stem cells (MSCs)
  • cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two globular domains consisting mostly of alpha-helical segments
  • the domain situated closest to the membrane contains both the N- and C-terminal sequences and the enzyme-active site
  • the outer domain contains all of the amino acids whose substitutions lead to different Kell blood group phenotypes (Lee 2003)
  • a conserved pentapeptide zinc (HEXXH) binding motif at the C terminus
  • conjugated GlycoP , MetalloP
    HOMOLOGY
    Homologene
    FAMILY
  • zinc endopeptidase family
  • M13 subfamily of neutral endopeptidase
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type II integral membrane glycoprotein
    basic FUNCTION
  • probable zinc endopeptidase activity
  • metalloprotease with demonstrated enzymatic activity (Claperon 2007)
  • functions as an endothelin-3-converting enzyme (Lee 2003)
  • cleaves the precursors of the endothelin peptides, and inactivates members of the tachykinin family with enzymatic properties resembling those of other members of the M13 family of metalloproteases to which it belongs (Claperon 2005)
  • metalloendopeptidase that preferentially cleaves a Trp(21)-Ile(22) bond of big endothelin-3 producing bioactive endothelin-3 (EDN3) (Sha 2006)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • binds 1 zinc ion per subunit
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) KEL
    related resource Blood Group Antigen Mutation Database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS