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FLASH GENE
Symbol HLA-C contributors: npt/ - updated : 26-09-2007
HGNC name major histocompatibility complex, class I, C
HGNC id 4933
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly
Lymphoid/Immunespleen   highly
Reproductivefemale systemuterus  highly
Respiratorylung   highly
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, alpha 2
  • a transmembranee segment
  • a cytoplasmic tail, 36 alleles
    • conjugated GlycoP
    mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • HLA-class II family
    • CATEGORY antigen
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in the presentation of foreign antigens to the immune system
    • 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
  • to psoriasis (PSORS1)
  • multinodular goiter
  • to metastatic progression of melanoma
  • to Graves disease
    • Variant & Polymorphism other
  • HLA-Cw4 allele can act as a protector against the development of multinodular goiter
  • alleles (HLA-C(Lys80)) seem to be associated with metastatic progression of melanoma
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS