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

Gene ID: 51752, updated on 29-Mar-2023

Summary

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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
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Genomic context

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See ERAP1 in Genome Data Viewer
Location:
5q15
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (96760813..96935854, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (97261648..97314923, complement)
105.20220307 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 calpastatin 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_chr5:96143603-96144102 Neighboring gene uncharacterized LOC124901033 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:96143101-96143602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:96172729-96173230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:96173231-96173730 Neighboring gene Sharpr-MPRA regulatory region 14932 Neighboring gene endoplasmic reticulum aminopeptidase 2 Neighboring gene uncharacterized LOC124901030 Neighboring gene Sharpr-MPRA regulatory region 4368 Neighboring gene ribosomal protein S20 pseudogene 16 Neighboring gene leucyl and cystinyl aminopeptidase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Shedding new light on the role of ERAP1 in Type 1 diabetes: A perspective on disease management. Paldino G, et al. Autoimmun Rev, 2023 Apr. PMID 36740089
  2. Structural and biochemical insights into the association between ERAP1 polymorphism and autoimmune diseases. Liu S, et al. Biochem Biophys Res Commun, 2022 Dec 3. PMID 36228519
  3. Functional ERAP1 Variants Distinctively Associate with Ankylosing Spondylitis Susceptibility under the Influence of HLA-B27 in Taiwanese. Wang CM, et al. Cells, 2022 Aug 5. PMID 35954271, Free PMC Article
  4. Associations between ERAP1 polymorphisms and ankylosing spondylitis susceptibility in HLA-B27 positive population: a Meta-analysis and bioinformatics analysis. Bai Y, et al. Nucleosides Nucleotides Nucleic Acids, 2022. PMID 35139766
  5. ERAP1 Controls the Interaction of the Inhibitory Receptor KIR3DL1 With HLA-B51:01 by Affecting Natural Killer Cell Function. D'Amico S, et al. Front Immunol, 2021. PMID 34917091, Free PMC Article

See all (242) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Shedding new light on the role of ERAP1 in Type 1 diabetes: A perspective on disease management.
    Title: Shedding new light on the role of ERAP1 in Type 1 diabetes: A perspective on disease management.
  2. A Comparative Review of Pregnancy and Cancer and Their Association with Endoplasmic Reticulum Aminopeptidase 1 and 2.
    Title: A Comparative Review of Pregnancy and Cancer and Their Association with Endoplasmic Reticulum Aminopeptidase 1 and 2.
  3. Genetic polymorphisms of Endoplasmic reticulum amino peptidase 1 (ERAP1) and Interferon lambda 4 (IFN-lambda4) in Egyptian patients with type 1 diabetes mellitus.
    Title: Genetic polymorphisms of Endoplasmic reticulum amino peptidase 1 (ERAP1) and Interferon lambda 4 (IFN-λ4) in Egyptian patients with type 1 diabetes mellitus.
  4. The ER Aminopeptidases, ERAP1 and ERAP2, synergize to self-modulate their respective activities.
    Title: The ER Aminopeptidases, ERAP1 and ERAP2, synergize to self-modulate their respective activities.
  5. Structural and biochemical insights into the association between ERAP1 polymorphism and autoimmune diseases.
    Title: Structural and biochemical insights into the association between ERAP1 polymorphism and autoimmune diseases.
  6. Behcet's disease risk-variant HLA-B51/ERAP1-Hap10 alters human CD8 T cell immunity.
    Title: Behçet's disease risk-variant HLA-B51/ERAP1-Hap10 alters human CD8 T cell immunity.
  7. Functional ERAP1 Variants Distinctively Associate with Ankylosing Spondylitis Susceptibility under the Influence of HLA-B27 in Taiwanese.
    Title: Functional ERAP1 Variants Distinctively Associate with Ankylosing Spondylitis Susceptibility under the Influence of HLA-B27 in Taiwanese.
  8. Ankylosing Spondylitis Patients Display Aberrant ERAP1 Gene DNA Methylation and Expression.
    Title: Ankylosing Spondylitis Patients Display Aberrant ERAP1 Gene DNA Methylation and Expression.
  9. Associations between ERAP1 polymorphisms and ankylosing spondylitis susceptibility in HLA-B27 positive population: a Meta-analysis and bioinformatics analysis.
    Title: Associations between ERAP1 polymorphisms and ankylosing spondylitis susceptibility in HLA-B27 positive population: a Meta-analysis and bioinformatics analysis.
  10. ERAP1 as an emerging therapeutic target for medulloblastoma.
    Title: ERAP1 as an emerging therapeutic target for medulloblastoma.
Submit: New GeneRIF Correction See all GeneRIFs (190)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
 PubMed 
enables metalloexopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables peptide binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables zinc ion binding NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in angiogenesis TAS
Traceable Author Statement
more info
 PubMed 
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I TAS
Traceable Author Statement
more info
 PubMed 
involved_in antigen processing and presentation of peptide antigen via MHC class I TAS
Traceable Author Statement
more info
  
involved_in fat cell differentiation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in membrane protein ectodomain proteolysis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in peptide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in positive regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of blood pressure NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of blood pressure TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of innate immune response NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in response to bacterium 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
 PubMed 
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 
located_in membrane HDA PubMed 
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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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)

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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_001040458.3 → NP_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, Q9UKY2
    Related
    ENSP00000406304.2, ENST00000443439.7
    Conserved Domains (2) summary
    cd09601
    Location:61 → 531
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam11838
    Location:597 → 916
    ERAP1_C; ERAP1-like C-terminal domain

  2. NM_001198541.3 → NP_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, Q9UKY2
    Conserved Domains (2) summary
    cd09601
    Location:61 → 531
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam11838
    Location:597 → 916
    ERAP1_C; ERAP1-like C-terminal domain

  3. NM_001349244.2 → NP_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
    Conserved Domains (2) summary
    cd09601
    Location:61 → 531
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam11838
    Location:597 → 916
    ERAP1_C; ERAP1-like C-terminal domain

  4. NM_016442.5 → NP_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, ENST00000296754.7
    Conserved Domains (2) summary
    cd09601
    Location:61 → 531
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam11838
    Location:597 → 916
    ERAP1_C; ERAP1-like C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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_047417310.1 → XP_047273266.1  endoplasmic reticulum aminopeptidase 1 isoform X3

  2. XM_047417309.1 → XP_047273265.1  endoplasmic reticulum aminopeptidase 1 isoform X3

  3. XM_047417308.1 → XP_047273264.1  endoplasmic reticulum aminopeptidase 1 isoform X3

  4. XM_017009581.2 → XP_016865070.1  endoplasmic reticulum aminopeptidase 1 isoform X1

    Conserved Domains (2) summary
    cd09601
    Location:61 → 531
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam11838
    Location:597 → 916
    ERAP1_C; ERAP1-like C-terminal domain

  5. XM_011543485.3 → XP_011541787.1  endoplasmic reticulum aminopeptidase 1 isoform X1

    See identical proteins and their annotated locations for XP_011541787.1

    Conserved Domains (2) summary
    cd09601
    Location:61 → 531
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam11838
    Location:597 → 916
    ERAP1_C; ERAP1-like C-terminal domain

  6. XM_011543484.3 → XP_011541786.1  endoplasmic reticulum aminopeptidase 1 isoform X1

    See identical proteins and their annotated locations for XP_011541786.1

    Conserved Domains (2) summary
    cd09601
    Location:61 → 531
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam11838
    Location:597 → 916
    ERAP1_C; ERAP1-like C-terminal domain

  7. XM_005272015.6 → XP_005272072.1  endoplasmic reticulum aminopeptidase 1 isoform X1

    See identical proteins and their annotated locations for XP_005272072.1

    Conserved Domains (2) summary
    cd09601
    Location:61 → 531
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam11838
    Location:597 → 916
    ERAP1_C; ERAP1-like C-terminal domain

  8. XM_047417305.1 → XP_047273261.1  endoplasmic reticulum aminopeptidase 1 isoform X1

  9. XM_047417306.1 → XP_047273262.1  endoplasmic reticulum aminopeptidase 1 isoform X1

  10. XM_005272016.5 → XP_005272073.1  endoplasmic reticulum aminopeptidase 1 isoform X1

    See identical proteins and their annotated locations for XP_005272073.1

    Conserved Domains (2) summary
    cd09601
    Location:61 → 531
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam11838
    Location:597 → 916
    ERAP1_C; ERAP1-like C-terminal domain

  11. XM_047417307.1 → XP_047273263.1  endoplasmic reticulum aminopeptidase 1 isoform X1

  12. XM_017009583.3 → XP_016865072.1  endoplasmic reticulum aminopeptidase 1 isoform X4

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

    See identical proteins and their annotated locations for XP_011541788.1

    UniProtKB/Swiss-Prot
    Q9NZ08, Q9UKY2
    Conserved Domains (2) summary
    cd09601
    Location:61 → 531
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam11838
    Location:597 → 916
    ERAP1_C; ERAP1-like C-terminal domain

  14. XM_047417312.1 → XP_047273268.1  endoplasmic reticulum aminopeptidase 1 isoform X5

    UniProtKB/TrEMBL
    A0A075BTL2

  15. XM_047417311.1 → XP_047273267.1  endoplasmic reticulum aminopeptidase 1 isoform X5

    UniProtKB/TrEMBL
    A0A075BTL2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    97261648..97314923 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NZ08.3 GenPept UniProtKB/Swiss-Prot:Q9NZ08

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