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    ERAP2 endoplasmic reticulum aminopeptidase 2 [ Homo sapiens (human) ]

    Gene ID: 64167, updated on 12-Sep-2017
    Official Symbol
    ERAP2provided by HGNC
    Official Full Name
    endoplasmic reticulum aminopeptidase 2provided by HGNC
    Primary source
    HGNC:HGNC:29499
    See related
    Ensembl:ENSG00000164308 MIM:609497; Vega:OTTHUMG00000128718
    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
    LRAP; L-RAP
    Summary
    This gene encodes a zinc metalloaminopeptidase of the M1 protease family that resides in the endoplasmic reticulum and functions in N-terminal trimming antigenic epitopes for presentation by major histocompatibility complex (MHC) class I molecules. Certain mutations in this gene are associated with the inflammatory arthritis syndrome ankylosing spondylitis and pre-eclampsia. This gene is located adjacent to a closely related aminopeptidase gene on chromosome 5. [provided by RefSeq, Jul 2016]
    Orthologs
    Location:
    5q15
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (96875940..96919703)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (96211644..96255420)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724748 Neighboring gene endoplasmic reticulum aminopeptidase 1 Neighboring gene uncharacterized LOC105379092 Neighboring gene uncharacterized LOC101929747 Neighboring gene ribosomal protein S20 pseudogene 16 Neighboring gene leucyl and cystinyl aminopeptidase

    • 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
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with ERAP2; predicted interaction to be involved in antigenicity/immunity PubMed
    capsid gag HIV-1 p24 levels in PBMC cultures are significantly lower in ERAP2 homoA compared with both homoB and heteroAB samples, suggesting homoA is correlated with resistance to HIV-1 infection PubMed

    Go to the HIV-1, Human Interaction Database

    • 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

    • FLJ23633, FLJ23701, FLJ23807

    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 
    metalloaminopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    metallopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    zinc ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    peptide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of blood pressure TAS
    Traceable Author Statement
    more info
    PubMed 
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    endoplasmic reticulum aminopeptidase 2
    Names
    leukocyte-derived arginine aminopeptidase
    NP_001123612.1
    NP_071745.1
    XP_011541846.1

    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_051092.1 RefSeqGene

      Range
      5001..48778
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130140.2NP_001123612.1  endoplasmic reticulum aminopeptidase 2 isoform 1

      See identical proteins and their annotated locations for NP_001123612.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein (isoform 1).
      Source sequence(s)
      AC008850, AF191545, AK312864, AV688559, CA311579, DA990479, DB159802
      Consensus CDS
      CCDS4086.1
      UniProtKB/Swiss-Prot
      Q6P179
      UniProtKB/TrEMBL
      B2R769
      Conserved Domains (3) summary
      cd09601
      Location:76548
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:68458
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:621938
      ERAP1_C; ERAP1-like C-terminal domain
    2. NM_001329229.1NP_001316158.1  endoplasmic reticulum aminopeptidase 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AC008850, AV688559, BC065240, BU430967, CA311579, DA990479
      UniProtKB/Swiss-Prot
      Q6P179
      Conserved Domains (3) summary
      cd09601
      Location:76503
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:68413
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:576893
      ERAP1_C; ERAP1-like C-terminal domain
    3. NM_001329233.1NP_001316162.1  endoplasmic reticulum aminopeptidase 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR, lacks multiple exons in the 3' coding region and its 3' terminal exon extends past a known splice donor site, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AV688559, BC017927, BC065240, BU430967, DA990479
      UniProtKB/Swiss-Prot
      Q6P179
      Conserved Domains (1) summary
      cl14813
      Location:76325
      GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
    4. NM_022350.4NP_071745.1  endoplasmic reticulum aminopeptidase 2 isoform 1

      See identical proteins and their annotated locations for NP_071745.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 2 both encode the same protein (isoform 1).
      Source sequence(s)
      AC008850, AF191545, AK312864, AV688559, BU430967, CA311579, DA990479
      Consensus CDS
      CCDS4086.1
      UniProtKB/Swiss-Prot
      Q6P179
      UniProtKB/TrEMBL
      B2R769
      Related
      ENSP00000400376.3, OTTHUMP00000158906, ENST00000437043.7, OTTHUMT00000250623
      Conserved Domains (3) summary
      cd09601
      Location:76548
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:68458
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:621938
      ERAP1_C; ERAP1-like C-terminal domain

    RNA

    1. NR_137637.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB163917, AC008850, AC009126, AV688559, BC065240, BU430967, CA311579, DA990479

    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
      96875940..96919703
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543544.1XP_011541846.1  endoplasmic reticulum aminopeptidase 2 isoform X1

      Conserved Domains (3) summary
      cd09601
      Location:76525
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:68458
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:598915
      ERAP1_C; ERAP1-like C-terminal domain

    RNA

    1. XR_948283.2 RNA Sequence

    2. XR_001742179.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      95644340..95688104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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