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FLASH GENE
Symbol HLA-F contributors: mct - updated : 25-10-2018
HGNC name major histocompatibility complex, class I, F
HGNC id 4963
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three globular extracellular domains, alpha 1 and alpha 2 forming the peptide binding groove
  • a I, C-like alpha 3 domain
  • a single transmembrane domain
  • a cytoplasmic tail
    • conjugated GlycoP
    mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • HLA, class I family
    • CATEGORY antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text
  • highly expressed, for example, in placental villi, on the surface of invasive and migratory extra-villus trophoblasts (EVTs) and decidual stromal cells (DSCs)
    • basic FUNCTION
  • likely to only bind to a restricted set of proteins
  • is thought to regulate immune responses and could play an important role in regulating maternal-fetal immunotolerance during pregnancy
  • HLA-F expression increases during the menstrual cycle and is upregulated by progesterone during the differentiation of endometrial stromal fibroblasts (ESFs) into DSCs
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
  • forming an heterodimer with beta 2 microglobular (B2M)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other TAP and tapasin dependent
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    as the menstrual cycle progresses and is upregulated by progesterone, PGR, and GATA2 during the differentiation of ESFs into DSCs and dysregulation is associated with implantation failure and recurrent spontaneous abortion
    Susceptibility to variation of fecundability
    Variant & Polymorphism SNP
  • SNP rs2523393, which is an eQTL for HLA-F, is significantly associated with fecundability
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS