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FLASH GENE
Symbol HLA-B contributors: mct/npt - updated : 19/11/2008
HGNC name major histocompatibility complex, class I, B
HGNC id 4932
Location 6p21.3      Physical location : 2.615.166 - 31.324.989
Synonym name
  • HLA-B,beta chain, 44kDa, class Ia (see MHC1)
  • ankylosing spondylitis
  • MHC class I antigen HLA-B heavy chain
  • HLA class I histocompatibility antigen, B-7 alpha chain
  • lymphocyte antigen
  • HLA class I histocompatibility antigen, Cw-5 alpha chain
  • MHC class I antigen B*
    • Synonym symbol(s) AS, HLA-B-7301, HLA-B73, HLAB, HLAC, SPDA1, Bw*, MGC111087
    DNA
    TYPE functioning gene
    STRUCTURE 3.34 kb     8 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1578 38 362 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    cells
    SystemCellPubmedSpeciesStageRna symbol
     mast cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two extracellular globular domains, alpha 1 and alpha 2
  • a transmembranee segment
  • a cytoplasmic tail, highly polymorphic, 118 alleles
    • conjugated GlycoP
    mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • MHC class I family
    • CATEGORY antigen
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimer of alpha and beta chain, the alpha 1 domain forming the peptide groove with the beta 1 domain of HLA-DMB
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • releasing the CLIP molecule from the peptide binding site
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • ankylosing spondylitis (AS)
  • Behcet's disease
  • to psoriasis arthropathy
    • Variant & Polymorphism other
  • interaction between KIR3DS1 and HLA-B (BW4-80Ile) decreases progression of HIV1
  • HLA-B51 associated to Behcet's disease
  • HLA-B27 associated to ankylosing spondylitis (may arise because of aberrant folding of HLA-B27 molecules within the ER)
  • HLA-B51 may play a role in the pathogenesis of psoriasis arthropathy
  • linkage to the HLA-B region in one AS pedigree (Gu 2009)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS