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Aliases for ERAP1 Gene

Aliases for ERAP1 Gene

  • Endoplasmic Reticulum Aminopeptidase 1 2 3
  • 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 63
  • EC 3.4.11.- 4
  • EC 3.4.11 63
  • 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 juvenile psoriatic arthritis and spondyloarthropathy 1. Among its related pathways are Immune System and Antigen processing- Ubiquitination and Proteasome degradation. GO annotations related to this gene include metallopeptidase activity and metalloexopeptidase activity. An important paralog of this gene is LVRN.

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

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

Genomics for ERAP1 Gene

Regulatory Elements for ERAP1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 zinc ion per subunit.;
    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

Proteomics data for ERAP1 Gene at MOPED

Selected DME Specific Peptides for ERAP1 Gene

Post-translational modifications for ERAP1 Gene

Antibody Products

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

Domains & Families for ERAP1 Gene

Protein Domains for ERAP1 Gene

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 CatalyticActivity:
Release of an N-terminal amino acid, Xaa- -Xbb-, in which Xaa is preferably Leu, but may be other amino acids including Met, Cys and Phe.
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

Gene Ontology (GO) - Molecular Function for ERAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity IDA 10220586
GO:0005138 interleukin-6 receptor binding IPI 12748171
GO:0005151 interleukin-1, Type II receptor binding TAS 15691326
GO:0005164 tumor necrosis factor receptor binding IEA --
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

Animal Models for ERAP1 Gene

MGI Knock Outs for ERAP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERAP1

In Situ Assay Products

Flow Cytometry Products

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
Jensen Localization Image for ERAP1 Gene COMPARTMENTS Subcellular localization image for ERAP1 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
extracellular 5
nucleus 2
plasma membrane 2

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 --
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Angiogenic Growth Factors in human,mouse,rat
    • Growth Factors in human,mouse,rat

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:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0006508 proteolysis --
GO:0006509 membrane protein ectodomain proteolysis IDA 12748171
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: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bradykinin Pharma Full agonist, Agonist Endogenous agonist at bradykinin receptors (B2 > B1) 38
KALLIDIN Pharma Full agonist, Agonist 0
leucine Nutra 93

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ang ii
VEGF
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERAP1

Flow Cytometry Products

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 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, MOPED, and MaxQB for ERAP1 Gene



SOURCE GeneReport for Unigene cluster for ERAP1 Gene Hs.666524

mRNA Expression by UniProt/SwissProt for ERAP1 Gene

Q9NZ08-ERAP1_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expression patterns with ERAP1: view

Protein tissue co-expression partners for ERAP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ERAP1 35
  • 86.96 (n)
  • 88.06 (a)
ERAP1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERAP1 35
  • 86.44 (n)
  • 84.66 (a)
ERAP1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Erap1 35
  • 86.3 (n)
  • 86.23 (a)
Erap1 16
Erap1 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERAP1 35
  • 99.61 (n)
  • 99.68 (a)
ERAP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Erap1 35
  • 85.79 (n)
  • 85.37 (a)
oppossum
(Monodelphis domestica)
Mammalia ERAP1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 70 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves ERAP1 35
  • 70.82 (n)
  • 69.24 (a)
ERAP1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERAP1 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erap1 35
  • 67.64 (n)
  • 66.93 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
zgc:56194 35
  • 65.44 (n)
  • 63.76 (a)
ERAP1 (1 of 2) 36
  • 57 (a)
OneToMany
ERAP1 (2 of 2) 36
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG4467 36
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F49B2.6 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for ERAP1:
  • 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 MAF
VAR_012779 -
VAR_012780 -
VAR_012781 -
VAR_012782 -
VAR_012783 -

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

Variant ID Type Subtype PubMed ID
nsv830411 CNV Loss 17160897
nsv516293 CNV Gain+Loss 19592680
nsv436983 CNV Loss 16327808

Variation tolerance for ERAP1 Gene

Residual Variation Intolerance Score: 71.86% 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

HapMap Linkage Disequilibrium report
ERAP1
Human Gene Mutation Database (HGMD)
ERAP1

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

Disorders for ERAP1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ERAP1 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
juvenile psoriatic arthritis
  • juvenile arthritis
spondyloarthropathy 1
  • psoriatic arthritis
enthesitis-related arthritis
  • era
spondylitis
birdshot chorioretinopathy
  • bscr
- elite association
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 S.-C. … Goldberg A.L. (Proc. Natl. Acad. Sci. U.S.A. 2005) 2 23 67
  2. Identification of ARTS-1 as a novel TNFR1-binding protein that promotes TNFR1 ectodomain shedding. (PMID: 12189246) Cui X. … Levine S.J. (J. Clin. Invest. 2002) 2 23 67
  3. Molecular cloning of adipocyte-derived leucine aminopeptidase highly related to placental leucine aminopeptidase/oxytocinase. (PMID: 10220586) Hattori A. … Tsujimoto M. (J. Biochem. 1999) 2 23 67
  4. [Expression and significance of differentially expressed protein endoplasmic reticulum aminopeptidase 1 in ovarian carcinoma with lymph node metastasis]. (PMID: 20367925) Liu B. … Li L. (Zhonghua Fu Chan Ke Za Zhi 2010) 23 67
  5. 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) PazA!r B. … PoA^r G. (J. Rheumatol. 2010) 23 67

Products for ERAP1 Gene

Sources for ERAP1 Gene

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