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

Gene ID: 51752, updated on 20-Jan-2019

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
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

Genomic context

See ERAP1 in Genome Data Viewer
Location:
5q15
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (96760273..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 endoplasmic reticulum aminopeptidase 2 Neighboring gene ribosomal protein S20 pseudogene 16 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 FunctionsWhat's a GeneRIF?

Phenotypes

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

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
metalloexopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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
PubMed 
positive regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 HDA PubMed 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space HDA PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane HDA PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    132795..180174
    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
    Q9NZ08
    Related
    ENSP00000406304.2, ENST00000443439.6
    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_001198541.2NP_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 (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_001349244.1NP_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
    Consensus CDS
    CCDS4085.1
    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_016442.4NP_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, 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    96760273..96935983 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    96934091..96936084 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446113.1XP_024301881.1  endoplasmic reticulum aminopeptidase 1 isoform X1

    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. XM_017009581.1XP_016865070.1  endoplasmic reticulum aminopeptidase 1 isoform X1

    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. XM_011543485.2XP_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: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. XM_011543481.2XP_011541783.1  endoplasmic reticulum aminopeptidase 1 isoform X1

    See identical proteins and their annotated locations for XP_011541783.1

    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_011543484.2XP_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: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_011543480.2XP_011541782.1  endoplasmic reticulum aminopeptidase 1 isoform X1

    See identical proteins and their annotated locations for XP_011541782.1

    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_005272016.4XP_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: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_005272015.5XP_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: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
  9. XM_017009583.2XP_016865072.1  endoplasmic reticulum aminopeptidase 1 isoform X3

  10. XM_011543486.3XP_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 (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

RNA

  1. XR_001742119.2 RNA Sequence

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