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FLASH GENE
Symbol ERAP1 contributors: mct/pgu - updated : 16-04-2014
HGNC name endoplasmic reticulum aminopeptidase 1
HGNC id 18173
Location 5q15      Physical location : 96.096.514 - 96.143.892
Synonym name
  • adipocyte-derived leucine aminopeptidase
  • aminopeptidase PILS
  • type 1 tumor necrosis factor receptor shedding aminopeptidase regulator
  • puromycin-insensitive leucyl-specific aminopeptidase
  • aminopeptidase regulator of TNFR1 shedding
  • Synonym symbol(s) ALAP, ERAAP, APPILS, PILSAP, KIAA0525, ARTS-1, ARTS1, A-LAP, ERAAP1, PILS-AP
    EC.number 3.4.11.-
    DNA
    TYPE functioning gene
    STRUCTURE 47.30 kb     20 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 5584 107.8 948 - 2006 17015730
    19 - 5085 107.2 941 - 2006 17015730
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
     thymus   highly
    Respiratoryrespiratory tracttrachea  highly
    Urinarykidneytubuleconvoluted tubuleproximal tubule  Homo sapiens
     kidneytubuleconvoluted tubuledistal tubule  Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Connectivebone   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal signal peptide
  • five potential N glycosylation sites
  • one potential membrane spanning domain
  • one zinc finger binding motif
  • mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Erap1 (85.7pc)
    homolog to rattus Erap1 (84.8pc)
    intraspecies paralog to ERAP2
    Homologene
    FAMILY
  • M1 family of zinc metallopeptidase
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • playing a role in the regulation of blood pressure through inactivation of angiotensin 2 and/or generation of bradykinin in the kidney
  • NUCB2/ERAP1 complexes, which associate with TNFRSF1A play an important role in mediating TNFRSF1A release to the extracellular compartment
  • a multifunctional aminopeptidase that may modulate inflammatory events by promoting IL6Ralpha and TNFR1 shedding
  • IFN-gamma-induced aminopeptidase that trims longer precursors to the antigenic peptides presented on MHC class I molecules to facilitates antigen presentation
  • major enzyme that trims precursor peptides in the endoplasmic reticulum and, in this process, can generate or destroy antigenic peptides (trims MHC class I-presented peptides and plays an important role in immunodominance)
  • having function in the cleavage of cell-surface cytokine receptors (e.g. TNFR1) and peptide binding to MHC class I molecules in the ER
  • play a role in blood pressure regulation and essential hypertension in addition to innate immune and inflammatory responses
  • ERAP1, ERAP2, LNPEP play critical roles in the generation of antigenic peptides
  • trims antigen precursors to fit into MHC class I proteins, through a generic aminopeptidase structure adapted for the specialized function of trimming antigenic precursors
  • endoplasmic reticulum aminopeptidase involved in peptide trimming before HLA class I presentation
  • ERAP1 and ERAP2 cooperate to trim antigenic peptide precursors for loading onto MHC class I molecules and help regulate the adaptive immune response
  • ERAP1 and ERAP2 might play an important role in shaping the MHC class I-presented peptide repertoire
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • NUCB2/ERAP1 complexes
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • zinc ion
  • protein
  • interacting with NUCB2 (via its helix-loop-helix domains, binds the ERAP1 extracellular domain)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to ankylosing spondylitis (AS), in HLA-B27-positive individuals
  • to preeclampsia
  • Variant & Polymorphism SNP , other
  • snp ERAP1-56 and ERAP1-127 significantly associated with clinical outcome in cervical carcinoma
  • rs27434, rs27689 and rs27043 strongly associated to AS
  • polymorphisms of ERAP1 increasing the risk of ankylosing spondylitis (AS), in HLA-B27-positive individuals (
  • associated with preeclampsia
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    healthy mice Erap1-/-. MHC class I levels were reduced in Erap1 -/- splenocytes, but not fibroblasts, and peptide trimming in Erap1 -/- fibroblasts was reduced. The immune response in Erap1 -/- mice to some viral peptides was altered due to lack of the trimming enzyme