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    ERAP1 endoplasmic reticulum aminopeptidase 1 [ Homo sapiens (human) ]

    Gene ID: 51752, updated on 22-Apr-2017
    Official Symbol
    ERAP1provided by HGNC
    Official Full Name
    endoplasmic reticulum aminopeptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:18173
    See related
    Ensembl:ENSG00000164307 MIM:606832; Vega:OTTHUMG00000128721
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALAP; A-LAP; ARTS1; ERAAP; APPILS; ARTS-1; ERAAP1; PILSAP; PILS-AP
    Summary
    The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
    Orthologs
    Location:
    5q15
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (96759245..96935983, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (96096514..96149848, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene calpastatin Neighboring gene uncharacterized LOC107986363 Neighboring gene uncharacterized LOC105379094 Neighboring gene uncharacterized LOC102724748 Neighboring gene uncharacterized LOC105379092 Neighboring gene endoplasmic reticulum aminopeptidase 2 Neighboring gene uncharacterized LOC101929747 Neighboring gene ribosomal protein S20 pseudogene 16 Neighboring gene leucyl and cystinyl aminopeptidase Neighboring gene SET pseudogene 22

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
    NHGRI GWA Catalog
    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1.
    NHGRI GWA Catalog
    Genome-wide association study of alcohol dependence.
    NHGRI GWA Catalog
    Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
    NHGRI GWA Catalog
    Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
    NHGRI GWA Catalog
    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen Presentation: Folding, assembly and peptide loading of class I MHC, organism-specific biosystem (from REACTOME)
      Antigen Presentation: Folding, assembly and peptide loading of class I MHC, organism-specific biosystemUnlike other glycoproteins, correct folding of MHC class I molecules is not sufficient to trigger their exit from the ER, they exit only after peptide loading. Described here is the process of antige...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0525

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aminopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endopeptidase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    interleukin-1, Type II receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    interleukin-6 receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metalloaminopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    metalloexopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    zinc ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    angiogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    antigen processing and presentation of endogenous peptide antigen via MHC class I NAS
    Non-traceable Author Statement
    more info
    PubMed 
    antigen processing and presentation of endogenous peptide antigen via MHC class I TAS
    Traceable Author Statement
    more info
    PubMed 
    antigen processing and presentation of peptide antigen via MHC class I TAS
    Traceable Author Statement
    more info
     
    cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    fat cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    membrane protein ectodomain proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of blood pressure NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of blood pressure TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of innate immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    response to bacterium NAS
    Non-traceable Author Statement
    more info
    PubMed 
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    cytosol NAS
    Non-traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    endoplasmic reticulum aminopeptidase 1
    Names
    CTD-2260A17.2
    adipocyte-derived leucine aminopeptidase
    aminopeptidase PILS
    aminopeptidase regulator of TNFR1 shedding
    endoplasmic reticulum aminopeptidase 1 delta-Exon-11 isoform
    endoplasmic reticulum aminopeptidase 1 delta-Exon-13 isoform
    endoplasmic reticulum aminopeptidase 1 delta-Exon-14 isoform
    endoplasmic reticulum aminopeptidase 1 delta-Exon-15 isoform
    endoplasmic reticulum aminopeptidase associated with antigen processing
    puromycin-insensitive leucyl-specific aminopeptidase
    type 1 tumor necrosis factor receptor shedding aminopeptidase regulator

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027839.1 RefSeqGene

      Range
      10957..58335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040458.2NP_001035548.1  endoplasmic reticulum aminopeptidase 1 isoform b precursor

      See identical proteins and their annotated locations for NP_001035548.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform.
      Source sequence(s)
      AC008906, AF222340, DA327238, DA704693
      Consensus CDS
      CCDS47250.1
      UniProtKB/Swiss-Prot
      Q9NZ08
      Related
      ENSP00000406304.2, OTTHUMP00000222801, ENST00000443439.6, OTTHUMT00000370699
      Conserved Domains (3) summary
      cd09601
      Location:61531
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:53441
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:598914
      ERAP1_C; ERAP1-like C-terminal domain
    2. NM_001198541.2NP_001185470.1  endoplasmic reticulum aminopeptidase 1 isoform b precursor

      See identical proteins and their annotated locations for NP_001185470.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence and in the 5' UTR compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform.
      Source sequence(s)
      AC008906, AF222340, BC030775, DC398730
      Consensus CDS
      CCDS47250.1
      UniProtKB/Swiss-Prot
      Q9NZ08
      Conserved Domains (3) summary
      cd09601
      Location:61531
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:53441
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:598914
      ERAP1_C; ERAP1-like C-terminal domain
    3. NM_001349244.1NP_001336173.1  endoplasmic reticulum aminopeptidase 1 isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 encode the same isoform (a).
      Source sequence(s)
      AC008906, AF222340, AI291936, BP358233, DA704693
    4. NM_016442.4NP_057526.3  endoplasmic reticulum aminopeptidase 1 isoform a precursor

      See identical proteins and their annotated locations for NP_057526.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 4 encode the same isoform (a).
      Source sequence(s)
      AC008906, AF222340, AI291936, DA327238, DA704693
      Consensus CDS
      CCDS4085.1
      UniProtKB/Swiss-Prot
      Q9NZ08
      Related
      ENSP00000296754.3, OTTHUMP00000158909, ENST00000296754.7, OTTHUMT00000250626
      Conserved Domains (3) summary
      cd09601
      Location:61531
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:53441
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:598914
      ERAP1_C; ERAP1-like C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      96759245..96935983 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009582.1XP_016865071.1  endoplasmic reticulum aminopeptidase 1 isoform X3

      UniProtKB/Swiss-Prot
      Q9NZ08
      Conserved Domains (3) summary
      cd09601
      Location:61531
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:53441
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:598914
      ERAP1_C; ERAP1-like C-terminal domain
    2. XM_017009581.1XP_016865070.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      Conserved Domains (3) summary
      cd09601
      Location:61531
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:53441
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:598914
      ERAP1_C; ERAP1-like C-terminal domain
    3. XM_011543485.2XP_011541787.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      See identical proteins and their annotated locations for XP_011541787.1

      Conserved Domains (3) summary
      cd09601
      Location:61531
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:53441
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:598914
      ERAP1_C; ERAP1-like C-terminal domain
    4. XM_011543481.2XP_011541783.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      See identical proteins and their annotated locations for XP_011541783.1

      Conserved Domains (3) summary
      cd09601
      Location:61531
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:53441
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:598914
      ERAP1_C; ERAP1-like C-terminal domain
    5. XM_011543484.2XP_011541786.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      See identical proteins and their annotated locations for XP_011541786.1

      Conserved Domains (3) summary
      cd09601
      Location:61531
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:53441
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:598914
      ERAP1_C; ERAP1-like C-terminal domain
    6. XM_011543480.2XP_011541782.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      See identical proteins and their annotated locations for XP_011541782.1

      Conserved Domains (3) summary
      cd09601
      Location:61531
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:53441
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:598914
      ERAP1_C; ERAP1-like C-terminal domain
    7. XM_017009580.1XP_016865069.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      Conserved Domains (3) summary
      cd09601
      Location:61531
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:53441
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:598914
      ERAP1_C; ERAP1-like C-terminal domain
    8. XM_005272016.4XP_005272073.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      See identical proteins and their annotated locations for XP_005272073.1

      Conserved Domains (3) summary
      cd09601
      Location:61531
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:53441
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:598914
      ERAP1_C; ERAP1-like C-terminal domain
    9. XM_005272015.4XP_005272072.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      See identical proteins and their annotated locations for XP_005272072.1

      Conserved Domains (3) summary
      cd09601
      Location:61531
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:53441
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:598914
      ERAP1_C; ERAP1-like C-terminal domain
    10. XM_017009583.1XP_016865072.1  endoplasmic reticulum aminopeptidase 1 isoform X4

    11. XM_011543486.2XP_011541788.1  endoplasmic reticulum aminopeptidase 1 isoform X2

      See identical proteins and their annotated locations for XP_011541788.1

      UniProtKB/Swiss-Prot
      Q9NZ08
      Conserved Domains (3) summary
      cd09601
      Location:61531
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:53441
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:598914
      ERAP1_C; ERAP1-like C-terminal domain

    RNA

    1. XR_001742119.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      95529237..95582553 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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