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

    Gene ID: 51752, updated on 9-Dec-2024

    Summary

    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; AllianceGenome:HGNC:18173
    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]
    Expression
    Ubiquitous expression in fat (RPKM 18.4), duodenum (RPKM 14.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ERAP1 in Genome Data Viewer
    Location:
    5q15
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (96760813..96935854, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (97261648..97314923, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (96096517..96149848, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929710 Neighboring gene calpastatin Neighboring gene NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5-like Neighboring gene Sharpr-MPRA regulatory region 11450 Neighboring gene MPRA-validated peak5360 silencer Neighboring gene MPRA-validated peak5361 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22815 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:95992448-95993647 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:95997733-95998234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16193 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:96038749-96039248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16194 Neighboring gene uncharacterized LOC107986363 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:96069728-96070260 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:96116076-96117275 Neighboring gene uncharacterized LOC124901031 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:96143101-96143602 Neighboring gene uncharacterized LOC124901033 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:96143603-96144102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22817 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:96172729-96173230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:96173231-96173730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22821 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:96220180-96220354 Neighboring gene Sharpr-MPRA regulatory region 14932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22824 Neighboring gene uncharacterized LOC124901030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22829 Neighboring gene Sharpr-MPRA regulatory region 4368 Neighboring gene endoplasmic reticulum aminopeptidase 2 Neighboring gene ribosomal protein S20 pseudogene 16 Neighboring gene MPRA-validated peak5362 silencer Neighboring gene leucyl and cystinyl aminopeptidase Neighboring gene SET pseudogene 22

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
    EBI GWAS Catalog
    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
    EBI GWAS Catalog
    Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1.
    EBI GWAS Catalog
    Genome-wide association study of alcohol dependence.
    EBI GWAS Catalog
    Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with ERAP1; predicted interaction to be involved in antigenicity/immunity PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0525

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aminopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables endopeptidase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables interleukin-1, type II receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables interleukin-6 receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metalloaminopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloexopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    endoplasmic reticulum aminopeptidase 1
    Names
    adipocyte-derived leucine aminopeptidase
    aminopeptidase PILS
    aminopeptidase regulator of TNFR1 shedding
    endoplasmic reticulum aminopeptidase associated with antigen processing
    puromycin-insensitive leucyl-specific aminopeptidase
    type 1 tumor necrosis factor receptor shedding aminopeptidase regulator

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_027839.2 RefSeqGene

      Range
      133039..166500
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040458.3NP_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
      O60278, Q6UWY6, Q8NEL4, Q8TAD0, Q9NZ08, Q9UHF8, Q9UKY2
      UniProtKB/TrEMBL
      A0A0A7E7X3
      Related
      ENSP00000406304.2, ENST00000443439.7
      Conserved Domains (2) 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)
      pfam11838
      Location:597916
      ERAP1_C; ERAP1-like C-terminal domain
    2. NM_001198541.3NP_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
      O60278, Q6UWY6, Q8NEL4, Q8TAD0, Q9NZ08, Q9UHF8, Q9UKY2
      UniProtKB/TrEMBL
      A0A0A7E7X3
      Conserved Domains (2) 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)
      pfam11838
      Location:597916
      ERAP1_C; ERAP1-like C-terminal domain
    3. NM_001349244.2NP_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
      Consensus CDS
      CCDS4085.1
      UniProtKB/TrEMBL
      A0A0A7E7X3
      Conserved Domains (2) 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)
      pfam11838
      Location:597916
      ERAP1_C; ERAP1-like C-terminal domain
    4. NM_016442.5NP_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/TrEMBL
      A0A0A7E7X3
      Related
      ENSP00000296754.3, ENST00000296754.7
      Conserved Domains (2) 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)
      pfam11838
      Location:597916
      ERAP1_C; ERAP1-like C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      96760813..96935854 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417310.1XP_047273266.1  endoplasmic reticulum aminopeptidase 1 isoform X3

      UniProtKB/TrEMBL
      A0A0A7E7X3
    2. XM_047417309.1XP_047273265.1  endoplasmic reticulum aminopeptidase 1 isoform X3

      UniProtKB/TrEMBL
      A0A0A7E7X3
    3. XM_047417308.1XP_047273264.1  endoplasmic reticulum aminopeptidase 1 isoform X3

      UniProtKB/TrEMBL
      A0A0A7E7X3
    4. XM_017009581.2XP_016865070.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      UniProtKB/TrEMBL
      A0A0A7E7X3
      Conserved Domains (2) 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)
      pfam11838
      Location:597916
      ERAP1_C; ERAP1-like C-terminal domain
    5. XM_011543485.3XP_011541787.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      See identical proteins and their annotated locations for XP_011541787.1

      UniProtKB/TrEMBL
      A0A0A7E7X3
      Conserved Domains (2) 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)
      pfam11838
      Location:597916
      ERAP1_C; ERAP1-like C-terminal domain
    6. XM_011543484.3XP_011541786.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      See identical proteins and their annotated locations for XP_011541786.1

      UniProtKB/TrEMBL
      A0A0A7E7X3
      Conserved Domains (2) 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)
      pfam11838
      Location:597916
      ERAP1_C; ERAP1-like C-terminal domain
    7. XM_005272015.6XP_005272072.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      See identical proteins and their annotated locations for XP_005272072.1

      UniProtKB/TrEMBL
      A0A0A7E7X3
      Conserved Domains (2) 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)
      pfam11838
      Location:597916
      ERAP1_C; ERAP1-like C-terminal domain
    8. XM_047417305.1XP_047273261.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      UniProtKB/TrEMBL
      A0A0A7E7X3
    9. XM_047417306.1XP_047273262.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      UniProtKB/TrEMBL
      A0A0A7E7X3
    10. XM_005272016.5XP_005272073.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      See identical proteins and their annotated locations for XP_005272073.1

      UniProtKB/TrEMBL
      A0A0A7E7X3
      Conserved Domains (2) 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)
      pfam11838
      Location:597916
      ERAP1_C; ERAP1-like C-terminal domain
    11. XM_047417307.1XP_047273263.1  endoplasmic reticulum aminopeptidase 1 isoform X1

      UniProtKB/TrEMBL
      A0A0A7E7X3
    12. XM_017009583.3XP_016865072.1  endoplasmic reticulum aminopeptidase 1 isoform X4

    13. XM_011543486.4XP_011541788.1  endoplasmic reticulum aminopeptidase 1 isoform X2

      See identical proteins and their annotated locations for XP_011541788.1

      UniProtKB/Swiss-Prot
      O60278, Q6UWY6, Q8NEL4, Q8TAD0, Q9NZ08, Q9UHF8, Q9UKY2
      UniProtKB/TrEMBL
      A0A0A7E7X3
      Conserved Domains (2) 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)
      pfam11838
      Location:597916
      ERAP1_C; ERAP1-like C-terminal domain
    14. XM_047417312.1XP_047273268.1  endoplasmic reticulum aminopeptidase 1 isoform X5

      UniProtKB/TrEMBL
      A0A075BTL2, A0A075BV59
    15. XM_047417311.1XP_047273267.1  endoplasmic reticulum aminopeptidase 1 isoform X5

      UniProtKB/TrEMBL
      A0A075BTL2, A0A075BV59

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      97261648..97314923 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)