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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
Location 6p21.3      Physical location : 2.529.780 - 31.239.855
Synonym name
  • HLA-C, alpha chain, 44kDa, class Ia (see MHC1)
  • HLA class I heavy chain
  • HLA class I histocompatibility antigen C alpha chain
  • Synonym symbol(s) D6S204, FLJ27082, HLA-Cw, HLA-JY3, HLC-C, HLA-Cw*050x, PSORS1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 3.33 kb     8 Exon(s)
    MAPPING cloned Y linked Y status confirmed
    Physical map
    DDR1 6p21.3 discoidin domain receptor family, member 1 VARS2L 6p21.33 valyl-tRNA synthetase 2-like GTF2H4 6p21.3 general transcription factor IIH, polypeptide 4, 52kDa LOC389376 6 similar to GSGL541 DPCR1 6p21.32 similar to GSGL541 LOC389377 6 similar to KMQK697 C6orf15 6p21.3 chromosome 6 open reading frame 15 PSORS1C1 6p21.3 psoriasis susceptibility 1 candidate 1 CDSN 6p21.3 corneodesmosin PSORS1C2 6p21.3 psoriasis susceptibility 1 candidate 2 C6orf18 6p21.3 chromosome 6 open reading frame 18 TCF19 6p21.3 transcription factor 19 (SC1) POU5F1 6p21.31 POU domain, class 5, transcription factor 1 LOC253018 6p21.32 hypothetical protein LOC253018 LOC391911 6 similar to HLA-B-associated transcript 1A; HLA-B associated transcript 1A; HLA-B associated transcript 1; Nuclear RNA helicase HLA-C 6p21.3 major histocompatibility complex, class I, C HLA-B 6p21.3 major histocompatibility complex, class I, B MICA 6p21.3 MHC class I polypeptide-related sequence A HCP5 6p21.3 HLA complex P5 MICB 6p21.3 MHC class I polypeptide-related sequence B PPIP9 6p21.3 peptidylprolyl isomerase (cyclophilin) pseudogene 9 BAT1 6p21.33 HLA-B associated transcript 1 ATP6V1G2 6p21.3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2 NFKBIL1 6p21.3 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 LTA 6p21.3 lymphotoxin alpha (TNF superfamily, member 1) TNF 6p21.3 tumor necrosis factor (TNF superfamily, member 2)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1543 38 366 - -
    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