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Aliases for ERAP1 Gene

Aliases for ERAP1 Gene

  • Endoplasmic Reticulum Aminopeptidase 1 2 3 5
  • Puromycin-Insensitive Leucyl-Specific Aminopeptidase 2 3 4
  • Adipocyte-Derived Leucine Aminopeptidase 2 3 4
  • Type 1 Tumor Necrosis Factor Receptor Shedding Aminopeptidase Regulator 3 4
  • Aminopeptidase Regulator Of TNFR1 Shedding 2 3
  • Aminopeptidase PILS 3 4
  • PILS-AP 3 4
  • APPILS 3 4
  • ARTS-1 3 4
  • A-LAP 3 4
  • ARTS1 3 4
  • Endoplasmic Reticulum Aminopeptidase Associated With Antigen Processing 3
  • Endoplasmic Reticulum Aminopeptidase 1 Delta-Exon-11 Isoform 3
  • Endoplasmic Reticulum Aminopeptidase 1 Delta-Exon-13 Isoform 3
  • Endoplasmic Reticulum Aminopeptidase 1 Delta-Exon-14 Isoform 3
  • Endoplasmic Reticulum Aminopeptidase 1 Delta-Exon-15 Isoform 3
  • CTD-2260A17.2 3
  • EC 3.4.11.3 58
  • EC 3.4.11.- 4
  • EC 3.4.11 58
  • KIAA0525 4
  • ERAAP1 3
  • PILSAP 3
  • ERAAP 3
  • ALAP 3

External Ids for ERAP1 Gene

Previous GeneCards Identifiers for ERAP1 Gene

  • GC05M096124
  • GC05M091286

Summaries for ERAP1 Gene

Entrez Gene Summary for ERAP1 Gene

  • 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]

GeneCards Summary for ERAP1 Gene

ERAP1 (Endoplasmic Reticulum Aminopeptidase 1) is a Protein Coding gene. Diseases associated with ERAP1 include Birdshot Chorioretinopathy and Behcet Syndrome. Among its related pathways are Antigen Presentation- Folding, assembly and peptide loading of class I MHC and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include metallopeptidase activity and metalloexopeptidase activity. An important paralog of this gene is ERAP2.

UniProtKB/Swiss-Prot for ERAP1 Gene

  • Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activity toward peptides with charged C-terminus. May play a role in the inactivation of peptide hormones. May be involved in the regulation of blood pressure through the inactivation of angiotensin II and/or the generation of bradykinin in the kidney.

Gene Wiki entry for ERAP1 Gene

Additional gene information for ERAP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERAP1 Gene

Genomics for ERAP1 Gene

Regulatory Elements for ERAP1 Gene

Enhancers for ERAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H096805 1.7 FANTOM5 ENCODE dbSUPER 50.7 +128.5 128501 4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 RIOK2 ERAP1 ERAP2 ENSG00000248734 ENSG00000251054 LOC391813 LOC105379096 CAST LNPEP ENSG00000272109
GH05H096815 1.6 FANTOM5 Ensembl ENCODE dbSUPER 45.6 +118.9 118904 2 POLR2A ATF7 PRDM10 RUNX3 IKZF2 ZNF687 NR2F1 NRF1 DPF2 ELF1 ERAP1 ENSG00000248734 ERAP2 LNPEP LOC105379092
GH05H096779 1.4 Ensembl ENCODE dbSUPER 50.1 +154.4 154389 3 FOXA2 ZSCAN4 INSM2 ZNF76 FEZF1 RARA ZNF121 ZNF366 ZSCAN5C ZNF391 ERAP1 ENSG00000248734 RIOK2 GC05P096777
GH05H096822 1.4 FANTOM5 ENCODE dbSUPER 37.8 +112.0 112027 1 PKNOX1 FOXA2 FEZF1 RFX5 ZNF766 GATA2 ZNF366 FOS RUNX3 USF2 ERAP1 ENSG00000248734 ERAP2 ENSG00000247121 CAST LOC105379092
GH05H096879 1.7 FANTOM5 Ensembl ENCODE dbSUPER 30.3 +54.9 54859 3 HDAC1 BATF ZNF766 ZNF366 SCRT2 FOS ATF7 RUNX3 IKZF2 JUNB ERAP2 ERAP1 ENSG00000248734 LIX1 RIOK2 CAST LNPEP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ERAP1 on UCSC Golden Path with GeneCards custom track

Promoters for ERAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000184391 124 3601 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3

Genomic Location for ERAP1 Gene

Chromosome:
5
Start:
96,760,810 bp from pter
End:
96,935,924 bp from pter
Size:
175,115 bases
Orientation:
Minus strand

Genomic View for ERAP1 Gene

Genes around ERAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERAP1 Gene

Proteins for ERAP1 Gene

  • Protein details for ERAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZ08-ERAP1_HUMAN
    Recommended name:
    Endoplasmic reticulum aminopeptidase 1
    Protein Accession:
    Q9NZ08
    Secondary Accessions:
    • O60278
    • Q6UWY6
    • Q8NEL4
    • Q8TAD0
    • Q9UHF8
    • Q9UKY2

    Protein attributes for ERAP1 Gene

    Size:
    941 amino acids
    Molecular mass:
    107235 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer. May also exist as a heterodimer; with ERAP2. Interacts with RBMX.
    SequenceCaution:
    • Sequence=BAA25451.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ERAP1 Gene

    Alternative splice isoforms for ERAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERAP1 Gene

Selected DME Specific Peptides for ERAP1 Gene

Q9NZ08:
  • WWNDLWLNE
  • GAMENWG
  • FSIKIRRE
  • STYLVAF
  • GYYIVHY
  • WFGNLVT
  • HELAHQWFG
  • TWTLQKG
  • WLNEGFA

Post-translational modifications for ERAP1 Gene

  • N-glycosylated.
  • Glycosylation at isoforms=270, posLast=154154, isoforms=2414, posLast=760760, and isoforms=2901
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ERAP1 (Aminopeptidase PILS/ARTS1)

Domains & Families for ERAP1 Gene

Gene Families for ERAP1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ERAP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZ08

UniProtKB/Swiss-Prot:

ERAP1_HUMAN :
  • Belongs to the peptidase M1 family.
Family:
  • Belongs to the peptidase M1 family.
genes like me logo Genes that share domains with ERAP1: view

Function for ERAP1 Gene

Molecular function for ERAP1 Gene

UniProtKB/Swiss-Prot Function:
Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activity toward peptides with charged C-terminus. May play a role in the inactivation of peptide hormones. May be involved in the regulation of blood pressure through the inactivation of angiotensin II and/or the generation of bradykinin in the kidney.
UniProtKB/Swiss-Prot Induction:
By IFNG/IFN-gamma.

Enzyme Numbers (IUBMB) for ERAP1 Gene

Phenotypes From GWAS Catalog for ERAP1 Gene

Gene Ontology (GO) - Molecular Function for ERAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity EXP 12436109
GO:0004177 aminopeptidase activity IEA,IDA 10220586
GO:0005138 interleukin-6 receptor binding IPI 12748171
GO:0005151 interleukin-1, Type II receptor binding TAS 15691326
GO:0005515 protein binding IPI 18445477
genes like me logo Genes that share ontologies with ERAP1: view
genes like me logo Genes that share phenotypes with ERAP1: view

Human Phenotype Ontology for ERAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERAP1 Gene

MGI Knock Outs for ERAP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ERAP1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ERAP1
  • Applied Biological Materials Clones for ERAP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for ERAP1 Gene

Localization for ERAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERAP1 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERAP1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 4
nucleus 2
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 11056387
GO:0005615 extracellular space IDA 16502470
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum NAS 12748171
GO:0005788 endoplasmic reticulum lumen TAS 15691326
genes like me logo Genes that share ontologies with ERAP1: view

Pathways & Interactions for ERAP1 Gene

genes like me logo Genes that share pathways with ERAP1: view

Gene Ontology (GO) - Biological Process for ERAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis TAS 15691326
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with ERAP1: view

No data available for SIGNOR curated interactions for ERAP1 Gene

Drugs & Compounds for ERAP1 Gene

(3) Drugs for ERAP1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bradykinin Investigational Pharma Full agonist, Agonist Endogenous agonist at bradykinin receptors (B2 > B1) 52

(2) Additional Compounds for ERAP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ERAP1: view

Transcripts for ERAP1 Gene

Unigene Clusters for ERAP1 Gene

Endoplasmic reticulum aminopeptidase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ERAP1
  • Applied Biological Materials Clones for ERAP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ERAP1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^
SP1: - -
SP2:
SP3:
SP4: - - - - - - - -
SP5:
SP6: - - - -
SP7: - -
SP8: -
SP9:

ExUns: 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21
SP1: -
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for ERAP1 Gene

GeneLoc Exon Structure for
ERAP1
ECgene alternative splicing isoforms for
ERAP1

Expression for ERAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ERAP1 Gene

Protein differential expression in normal tissues from HIPED for ERAP1 Gene

This gene is overexpressed in Tlymphocyte (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ERAP1 Gene



Protein tissue co-expression partners for ERAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ERAP1 Gene:

ERAP1

SOURCE GeneReport for Unigene cluster for ERAP1 Gene:

Hs.666524

mRNA Expression by UniProt/SwissProt for ERAP1 Gene:

Q9NZ08-ERAP1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ERAP1 Gene

  • Blood(4.6)
  • Nervous system(4.6)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with ERAP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERAP1 Gene

Orthologs for ERAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ERAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERAP1 33 34
  • 99.61 (n)
cow
(Bos Taurus)
Mammalia ERAP1 33 34
  • 86.96 (n)
dog
(Canis familiaris)
Mammalia ERAP1 33 34
  • 86.44 (n)
mouse
(Mus musculus)
Mammalia Erap1 33 16 34
  • 86.3 (n)
rat
(Rattus norvegicus)
Mammalia Erap1 33
  • 85.79 (n)
oppossum
(Monodelphis domestica)
Mammalia ERAP1 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves ERAP1 34 33
  • 70.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERAP1 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erap1 33
  • 67.64 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:56194 33
  • 65.44 (n)
ERAP1 (2 of 2) 34
  • 60 (a)
OneToMany
ERAP1 (1 of 2) 34
  • 57 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG4467 34
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F49B2.6 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToMany
Species where no ortholog for ERAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ERAP1 Gene

ENSEMBL:
Gene Tree for ERAP1 (if available)
TreeFam:
Gene Tree for ERAP1 (if available)

Paralogs for ERAP1 Gene

Paralogs for ERAP1 Gene

(8) SIMAP similar genes for ERAP1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ERAP1: view

Variants for ERAP1 Gene

Sequence variations from dbSNP and Humsavar for ERAP1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs786205141 Pathogenic 96,762,313(-) AACCA(-/C)TTCAG nc-transcript-variant, reference, utr-variant-3-prime, frameshift-variant
rs556623443 Likely benign 96,793,922(+) TTCCA(C/T)AGCAC intron-variant, nc-transcript-variant, reference, missense
rs34261036 Benign 96,895,352(+) AGAGC(C/G/T)GCAAT intron-variant, nc-transcript-variant, reference, missense
rs1000013911 -- 96,841,538(+) CACCA(-/C)CCCCC intron-variant
rs1000039730 -- 96,803,695(+) GGTTC(C/T)CCAGA nc-transcript-variant, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ERAP1 Gene

Variant ID Type Subtype PubMed ID
esv3605865 CNV loss 21293372
nsv1021263 CNV loss 25217958
nsv1028741 CNV gain 25217958
nsv436983 CNV loss 16327808
nsv476820 CNV novel sequence insertion 20440878
nsv516293 CNV gain+loss 19592680
nsv598962 CNV gain 21841781
nsv598963 CNV gain 21841781
nsv830411 CNV loss 17160897

Variation tolerance for ERAP1 Gene

Residual Variation Intolerance Score: 71.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.01; 98.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERAP1 Gene

Human Gene Mutation Database (HGMD)
ERAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERAP1 Gene

Disorders for ERAP1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ERAP1 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
birdshot chorioretinopathy
  • birdshot chorioretinitis
behcet syndrome
  • behcet's disease
spondylitis
hypertension, essential
  • hypertension, essential 3
- elite association - COSMIC cancer census association via MalaCards
Search ERAP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ERAP1

Genetic Association Database (GAD)
ERAP1
Human Genome Epidemiology (HuGE) Navigator
ERAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERAP1
genes like me logo Genes that share disorders with ERAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERAP1 Gene

Publications for ERAP1 Gene

  1. The ER aminopeptidase, ERAP1, trims precursors to lengths of MHC class I peptides by a "molecular ruler" mechanism. (PMID: 16286653) Chang SC … Goldberg AL (Proceedings of the National Academy of Sciences of the United States of America 2005) 2 3 4 22 60
  2. Molecular cloning of adipocyte-derived leucine aminopeptidase highly related to placental leucine aminopeptidase/oxytocinase. (PMID: 10220586) Hattori A … Tsujimoto M (Journal of biochemistry 1999) 2 3 4 22 60
  3. Association of ARTS1 gene polymorphisms with ankylosing spondylitis in the Hungarian population: the rs27044 variant is associated with HLA-B*2705 subtype in Hungarian patients with ankylosing spondylitis. (PMID: 20032103) Pazár B … Poór G (The Journal of rheumatology 2010) 3 22 45 60
  4. Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis. (PMID: 19433412) Tsui FW … Inman RD (Annals of the rheumatic diseases 2010) 3 22 45 60
  5. The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations. (PMID: 19578876) Johnson MP … Moses EK (Human genetics 2009) 3 22 45 60

Products for ERAP1 Gene

  • Addgene plasmids for ERAP1

Sources for ERAP1 Gene

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