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

Gene ID: 51752, updated on 19-Jul-2014
Official Symbol
ERAP1provided by HGNC
Official Full Name
endoplasmic reticulum aminopeptidase 1provided by HGNC
Primary source
HGNC:18173
Locus tag
UNQ584/PRO1154
See related
Ensembl:ENSG00000164307; HPRD:06015; 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]
See ERAP1 in Epigenomics, MapViewer
Location:
5q15
Exon count:
22
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (96760810..96814145, 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 uncharacterized LOC101929710 Neighboring gene NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5-like Neighboring gene proprotein convertase subtilisin/kexin type 1 Neighboring gene calpastatin Neighboring gene uncharacterized LOC102724748 Neighboring gene uncharacterized LOC101929747 Neighboring gene endoplasmic reticulum aminopeptidase 2 Neighboring gene leucyl/cystinyl aminopeptidase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
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 
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 
metalloexopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 
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 region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome 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
endoplasmic reticulum aminopeptidase 1
aminopeptidase PILS
adipocyte-derived leucine aminopeptidase
aminopeptidase regulator of TNFR1 shedding
puromycin-insensitive leucyl-specific aminopeptidase
endoplasmic reticulum aminopeptidase associated with antigen processing
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 

    Range
    5001..58335
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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, OTTHUMP00000222801, ENST00000443439, OTTHUMT00000370699
    Conserved Domains (3) summary
    cd09601
    Location:61531
    Blast Score: 1729
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    COG0308
    Location:51928
    Blast Score: 1026
    PepN; Aminopeptidase N [Amino acid transport and metabolism]
    pfam11838
    Location:597916
    Blast Score: 458
    ERAP1_C; ERAP1-like C-terminal domain
  2. NM_001198541.1NP_001185470.1  endoplasmic reticulum aminopeptidase 1 isoform b precursor

    See proteins identical to 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, BC030775, DC398730
    Consensus CDS
    CCDS47250.1
    UniProtKB/Swiss-Prot
    Q9NZ08
    Conserved Domains (3) summary
    cd09601
    Location:61531
    Blast Score: 1729
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    COG0308
    Location:51928
    Blast Score: 1026
    PepN; Aminopeptidase N [Amino acid transport and metabolism]
    pfam11838
    Location:597916
    Blast Score: 458
    ERAP1_C; ERAP1-like C-terminal domain
  3. NM_016442.3NP_057526.3  endoplasmic reticulum aminopeptidase 1 isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC008906, AF222340, DA327238, DA704693
    Consensus CDS
    CCDS4085.1
    UniProtKB/Swiss-Prot
    Q9NZ08
    Related
    ENSP00000296754, OTTHUMP00000158909, ENST00000296754, OTTHUMT00000250626
    Conserved Domains (3) summary
    cd09601
    Location:61531
    Blast Score: 1729
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    COG0308
    Location:51928
    Blast Score: 1026
    PepN; Aminopeptidase N [Amino acid transport and metabolism]
    pfam11838
    Location:597916
    Blast Score: 457
    ERAP1_C; ERAP1-like C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    96760810..96814145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272015.2XP_005272072.1  

    See proteins identical to XP_005272072.1

    Conserved Domains (3) summary
    cd09601
    Location:61531
    Blast Score: 1729
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    COG0308
    Location:51928
    Blast Score: 1027
    PepN; Aminopeptidase N [Amino acid transport and metabolism]
    pfam11838
    Location:597916
    Blast Score: 458
    ERAP1_C; ERAP1-like C-terminal domain
  2. XM_005272016.2XP_005272073.1  

    See proteins identical to XP_005272073.1

    Conserved Domains (3) summary
    cd09601
    Location:61531
    Blast Score: 1729
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    COG0308
    Location:51928
    Blast Score: 1027
    PepN; Aminopeptidase N [Amino acid transport and metabolism]
    pfam11838
    Location:597916
    Blast Score: 458
    ERAP1_C; ERAP1-like C-terminal domain

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    91286769..91340086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

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