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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ERAP1 Gene

protein-coding   GIFtS: 67
GCID: GC05M096124

Endoplasmic Reticulum Aminopeptidase 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Endoplasmic Reticulum Aminopeptidase 11 2     PILS-AP2 3
Adipocyte-Derived Leucine Aminopeptidase1 2 3     ALAP2 5
Puromycin-Insensitive Leucyl-Specific Aminopeptidase1 2 3     PILSAP2 5
ARTS12 3 5     KIAA05253 5
Aminopeptidase Regulator Of TNFR1 Shedding1 2     ERAAP2
Aminopeptidase PILS2 3     ERAAP12
Type 1 Tumor Necrosis Factor Receptor Shedding Aminopeptidase Regulator2 3     Endoplasmic Reticulum Aminopeptidase Associated With Antigen Processing2
A-LAP2 3     EC 3.4.11.-3
APPILS2 3     EC 3.4.118
ARTS-12 3     EC 3.4.11.38

External Ids:    HGNC: 181731   Entrez Gene: 517522   Ensembl: ENSG000001643077   OMIM: 6068325   UniProtKB: Q9NZ083   

Export aliases for ERAP1 gene to outside databases

Previous GC identifer: GC05M091286


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 enthesitis-related arthritis, and juvenile psoriatic arthritis, and among its related super-pathways are Immune System and Antigen processing: Ubiquitination & Proteasome degradation. GO annotations related to this gene include metalloexopeptidase activity and metalloendopeptidase activity. An important paralog of this gene is LNPEP.

UniProtKB/Swiss-Prot: ERAP1_HUMAN, Q9NZ08
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

Gene Wiki entry for ERAP1 (ARTS-1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ERAP1 gene promoter:
         Nkx2-5   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   HNF-1A   E47   HOXA5   HNF-1   POU2F1c   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ERAP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ERAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ERAP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q15   Ensembl cytogenetic band:  5q15   HGNC cytogenetic band: 5q15

ERAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERAP1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M096124:  view genomic region     (about GC identifiers)

Start:
96,096,514 bp from pter      End:
96,149,848 bp from pter
Size:
53,335 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ERAP1_HUMAN, Q9NZ08 (See protein sequence)
Recommended Name: Endoplasmic reticulum aminopeptidase 1  
Size: 941 amino acids; 107235 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: Monomer. May also exist as a heterodimer; with ERAP2. Interacts with RBMX
Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein (Probable)
Caution: It is uncertain whether Met-1 or Met-13 is the initiator
Sequence caution: Sequence=BAA25451.2; Type=Erroneous initiation;
4 PDB 3D structures from and Proteopedia for ERAP1:
2YD0 (3D)        3MDJ (3D)        3QNF (3D)        3RJO (3D)    
Secondary accessions: O60278 Q6UWY6 Q8NEL4 Q8TAD0 Q9UHF8 Q9UKY2
Alternative splicing: 2 isoforms:  Q9NZ08-1   Q9NZ08-2   

Explore the universe of human proteins at neXtProt for ERAP1: NX_Q9NZ08

Explore proteomics data for ERAP1 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NZ08

  • 4/9 DME Specific Peptides for ERAP1 (Q9NZ08) (see all 9)
     GYYIVHY  STYLVAF  WFGNLVT  WLNEGFA 

    ERAP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ERAP1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001035548.1  NP_001185470.1  NP_057526.3  

    ENSEMBL proteins: 
     ENSP00000296754   ENSP00000406304   ENSP00000425381   ENSP00000427025   ENSP00000422631  
     ENSP00000421697  
    Reactome Protein details: Q9NZ08
    Human Recombinant Protein Products for ERAP1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ERAP1 (Aminopeptidase PILS/ARTS1)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for ERAP1
    OriGene Protein Over-expression Lysate for ERAP1
    OriGene MassSpec for ERAP1 
    OriGene Custom Protein Services for ERAP1
    GenScript Custom Purified and Recombinant Proteins Services for ERAP1
    Novus Biologicals ERAP1 Protein
    Novus Biologicals ERAP1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ERAP1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IDA11056387
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum NAS12748171
    GO:0005788endoplasmic reticulum lumen TAS15691326
    GO:0005789endoplasmic reticulum membrane IEA--

    ERAP1 for ontologies           About GeneDecksing



    ERAP1 Antibody Products: 
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    Abcam antibodies for ERAP1
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    ThermoFisher Antibodies for ERAP1
    LSBio Antibodies in human, mouse, rat for ERAP1 

    Assay Products for ERAP1: 
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    GenScript Custom Assay Services for ERAP1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ERAP1 
    Cloud-Clone Corp. CLIAs for ERAP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: Endoplasmic reticulum aminopeptidase 1 
    Aminopeptidases

    3 InterPro protein domains:
     IPR014782 Peptidase_M1_N
     IPR024571 DUF3358
     IPR001930 Peptidase_M1

    Graphical View of Domain Structure for InterPro Entry Q9NZ08

    ProtoNet protein and cluster: Q9NZ08

    1 Blocks protein domain: IPB001930 Membrane alanyl dipeptidase (M1) family signature

    UniProtKB/Swiss-Prot: ERAP1_HUMAN, Q9NZ08
    Similarity: Belongs to the peptidase M1 family


    ERAP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERAP1_HUMAN, Q9NZ08
    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
    Catalytic activity: 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
    Induction: By IFNG/IFN-gamma

         Enzyme Numbers (IUBMB): EC 3.4.11.-1 EC 3.4.11.32 EC 3.4.112

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177aminopeptidase activity IDA10220586
    GO:0005138interleukin-6 receptor binding IPI12748171
    GO:0005151interleukin-1, Type II receptor binding TAS15691326
    GO:0005515protein binding IPI18445477
    GO:0008235metalloexopeptidase activity IDA10220586
         
    ERAP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ERAP1:
     Decreased melanin production 

         5 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Erap1):
     cellular  hematopoietic system  immune system  no phenotypic analysis  renal/urinary system 

    ERAP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ERAP1: Erap1tm1Luc Erap1tm1.1Gnie Erap1tm1Iay Erap1tm1Nsha Erap1tm1Lex

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ERAP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ERAP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERAP1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERAP1 

    miRNA
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    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate ERAP1 (see all 30):
    hsa-miR-323-3p hsa-miR-30c hsa-miR-502-5p hsa-miR-16-2* hsa-miR-125a-3p hsa-miR-30d hsa-miR-944 hsa-miR-3171
    SwitchGear 3'UTR luciferase reporter plasmidERAP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of ERAP1

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): ERAP1 (NM_001198541)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERAP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERAP1
    Sirion Biotech Customized lentivirus for stable overexpression of ERAP1 
                         Customized lentivirus expression plasmids for stable overexpression of ERAP1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERAP1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ERAP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Immune System
    Immune System0.56
    Adaptive Immune System0.56
    2Antigen processing: Ubiquitination & Proteasome degradation
    Class I MHC mediated antigen processing & presentation0.83
    3TWEAK Pathway
    Apoptosis and survival TNFR1 signaling pathway0.52
    4COPII (Coat Protein 2) Mediated Vesicle Transport
    Antigen Presentation: Folding, assembly and peptide loading of class I MHC0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ERAP1
        Apoptosis and survival TNFR1 signaling pathway


    1 GeneGo (Thomson Reuters) Pathway for ERAP1
        Apoptosis and survival TNFR1 signaling pathway

    4        Reactome Pathways for ERAP1
        Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System



    ERAP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ERAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/17 Interacting proteins for ERAP1 (Q9NZ081, 3 ENSP000002967544) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL6RP088871, 3, ENSP000003574704EBI-299412,EBI-299383 I2D: score=2 STRING: ENSP00000357470
    TNFRSF1AP194383, ENSP000001627494I2D: score=4 STRING: ENSP00000162749
    ARFGEF2Q9Y6D53I2D: score=1 
    ERAP2Q6P1793I2D: score=1 
    NUCB2P803033I2D: score=1 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis TAS15691326
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0006508proteolysis ----
    GO:0006509membrane protein ectodomain proteolysis IDA12748171
    GO:0008217regulation of blood pressure TAS15691326

    ERAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ERAP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ERAP1

    1 HMDB Compound for ERAP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    BradykininCallidin I (see all 5)58-82-2--

    4 Novoseek inferred chemical compound relationships for ERAP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kallidin 73.1 1 14691298 (1)
    leucine 70.5 34 11481040 (3), 15314084 (2), 10220586 (2), 11857741 (2) (see all 15)
    ang ii 52.4 4 14654715 (2), 15741767 (1)
    vegf 20.7 5 14695154 (2), 15741767 (2), 16769060 (1)

    Search CenterWatch for drugs/clinical trials and news about ERAP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ERAP1 gene (3 alternative transcripts): 
    NM_001040458.1  NM_001198541.1  NM_016442.3  

    Unigene Cluster for ERAP1:

    Endoplasmic reticulum aminopeptidase 1
    Hs.666524  [show with all ESTs]
    Unigene Representative Sequence: AB011097
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296754(uc003kml.3) ENST00000443439(uc003kmm.3 uc003kmn.3)
    ENST00000512852 ENST00000514604 ENST00000507859 ENST00000503311 ENST00000503921
    ENST00000508227 ENST00000507154
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate ERAP1 (see all 30):
    hsa-miR-323-3p hsa-miR-30c hsa-miR-502-5p hsa-miR-16-2* hsa-miR-125a-3p hsa-miR-30d hsa-miR-944 hsa-miR-3171
    SwitchGear 3'UTR luciferase reporter plasmidERAP1 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERAP1
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    Additional mRNA sequence: 

    AB011097.2 AF106037.1 AF183569.1 AF222340.1 AK222873.1 AK291636.1 AK310535.1 AL110186.1 
    AY028806.1 AY028807.1 AY358590.1 BC030775.1 

    24 DOTS entries:

    DT.95242840  DT.100735425  DT.318663  DT.99957007  DT.100773028  DT.65284304  DT.95242825  DT.100014685 
    DT.91782042  DT.120833725  DT.97822633  DT.99938422  DT.120833738  DT.120833751  DT.318669  DT.40232005 
    DT.70103022  DT.91782120  DT.100850135  DT.100850141  DT.40291535  DT.95087424  DT.95201006  DT.99971904 

    24/198 AceView cDNA sequences (see all 198):

    CF138097 Z98524 AA579916 AK094985 BG057181 AW452755 AL553834 CA395050 
    AW274499 BC030775 BX395862 BC019347 AI634860 BQ016692 AI632045 AA036753 
    AW293268 BX371835 BU624113 BM765543 AA491080 AA436906 AA251904 CB108940 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for ERAP1 (see all 9)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for ERAP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ERAP1 expression in normal human tissues (normalized intensities)      ERAP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAATATTGA
    ERAP1 Expression
    About this image


    ERAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             bone marrow cd34+   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

    See ERAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ERAP1

    SOURCE GeneReport for Unigene cluster: Hs.666524

    UniProtKB/Swiss-Prot: ERAP1_HUMAN, Q9NZ08
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Arrays including ERAP1: 
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              Angiogenic Growth Factors in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERAP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ERAP1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Erap11 , 5 endoplasmic reticulum aminopeptidase 11, 5 85.98(n)1
    85.65(a)1
      13 (40.48 cM)5
    808981  NM_030711.41  NP_109636.11 
     746398725 
    chicken
    (Gallus gallus)
    Aves ERAP11 endoplasmic reticulum aminopeptidase 1 70.65(n)
    68.97(a)
      427122  XM_001232417.2  XP_001232418.2 
    lizard
    (Anolis carolinensis)
    Reptilia ERAP16
    endoplasmic reticulum aminopeptidase 1
    66(a)
    1 ↔ 1
    2(26484998-26512846)
    zebrafish
    (Danio rerio)
    Actinopterygii BC045983.12   -- 77.2(n)   393175  BC045983.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Psa6
    Puromycin sensitive aminopeptidase
    26(a)
    possible ortholog
    3L(1502843-1523380)
    worm
    (Caenorhabditis elegans)
    Secernentea pam-16
    T07F10.16
    (see all 5)
    Protein T07F10.1, isoform a
    (see all 5)
    28(a)
    25(a)
    (see all 5)
    possible ortholog
    many ↔ many
    (see all 5)
    IV(7543981-7550804)
    V(12859381-12863833)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AAP16
    APE26
    Arginine/alanine aminopeptidase, overproduction st...
    Aminopeptidase yscII; may have a role in obtaining...
    30(a)
    28(a)
    many ↔ many
    many ↔ many
    VIII(198740-201310)
    XI(154991-158232)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ERAP1 gene
    LNPEP2  ENPEP2  ANPEP2  TRHDE2  AQPEP2  NPEPPS2  ERAP22  
    8 SIMAP similar genes for ERAP1 using alignment to 3 protein entries:     ERAP1_HUMAN (see all proteins):
    ERAP2    LNPEP    ENPEP    ANPEP    AQPEP    FLJ90650
    TRHDE    NPEPPS

    ERAP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1173 SNPs in ERAP1 are shown (see all 1173)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs727739241,2
    --91307966(+) TTACAA/CTTTTT 3 -- int10--------
    rs2008636861,2
    C--91309785(+) CACAC-/ACACACA
    CACACACAT
    ACACA
    3 -- int10--------
    rs1134457761,2
    C,F--91341548(+) GGGGTC/TTCTTC 1 -- us2k11Minor allele frequency- T:0.00CSA 1
    rs38393001,2
    C--96110969(-) TCTTTCTTT/-  
            
    TGTGA
    5 -- ut31 cds1 int1 trp31Minor allele frequency- -:0.50CSA 2
    rs1469250651,2
    C--96110969(+) TCACA-/AAAG  
            
    AAAGA
    3 -- ut31 int10--------
    rs615012161,2
    C--96110970(+) AAAGA-/AAGA  
            
    CTTCA
    3 -- ut31 int11Minor allele frequency- AAGA:0.00NA 2
    rs2017726241,2
    C--96110972(+) CAAAAA/GAAAGA 3 -- ut31 int10--------
    rs1929485171,2
    --96111004(+) GTCCTA/GTTTGC 3 -- ut31 int10--------
    rs340233491,2
    C--96111043(+) GTACT-/ATCA  
            
    ATCAT
    3 -- ut31 int10--------
    rs719028341,2
    C--96111044(+) TACTA-/ATCA  
            
    TCATT
    3 -- ut31 int10--------

    HapMap Linkage Disequilibrium report for ERAP1 (96096514 - 96149848 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ERAP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv830411CNV Loss17160897
    nsv436983CNV Loss16327808
    nsv516293CNV Gain+Loss19592680


    Human Gene Mutation Database (HGMD): ERAP1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606832    OMIM disorders: --

    20/22 diseases for ERAP1 (see all 22):    About MalaCards
    enthesitis-related arthritis    juvenile psoriatic arthritis    ankylosing spondylitis    ankylosis
    endometrial carcinoma    spondylitis    psoriatic arthritis    alcohol dependence
    esophageal cancer    essential hypertension    alcoholism    hypertension
    type 1 diabetes    esophagitis    neuroblastoma    cervicitis
    arthritis    pneumonia    multiple sclerosis    melanoma

    2 diseases from the University of Copenhagen DISEASES database for ERAP1:
    Ankylosing spondylitis     Psoriasis

    ERAP1 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for ERAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    essential hypertension 40.9 3 13678427 (2), 19578876 (1)
    endometrial carcinoma 31.5 7 14695154 (3), 15741767 (2)
    tumors 3.79 8 16585582 (3), 14654715 (1), 20367925 (1), 14695154 (1) (see all 5)
    adenocarcinoma 0 4 15741767 (3), 14654715 (1)

    Genetic Association Database (GAD): ERAP1
    Human Genome Epidemiology (HuGE) Navigator: ERAP1 (30 documents)

    Export disorders for ERAP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ERAP1 gene, integrated from 9 sources (see all 108):
    (articles sorted by number of sources associating them with ERAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The ER aminopeptidase, ERAP1, trims precursors to lengths of MHC class I peptides by a 'molecular ruler' mechanism. (PubMed id 16286653)1, 2, 3, 9 Chang S.C....Goldberg A.L. (2005)
    2. Molecular cloning of adipocyte-derived leucine aminopeptidase highly related to placental leucine aminopeptidase/oxytocinase. (PubMed id 10220586)1, 2, 3, 9 Hattori A.... Tsujimoto M. (1999)
    3. Identification of ARTS-1 as a novel TNFR1-binding protein that promotes TNFR1 ectodomain shedding. (PubMed id 12189246)1, 3, 9 Cui X....Levine S.J. (2002)
    4. Association of ARTS1 gene polymorphisms with ankylosi ng spondylitis in the Hungarian population: the rs27044 variant is associated w ith HLA-B*2705 subtype in Hungarian patients with ankylosing spondylitis. (PubMed id 20032103)1, 4, 9 PazA!r B....PoA^r G. (2010)
    5. Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis. (PubMed id 19404951)1, 4, 9 Maksymowych W.P....Rahman P. (2009)
    6. Genomic organization of the human adipocyte-derived leucine aminopeptidase gene and its relationship to the placental leucine aminopeptidase/oxytocinase gene. (PubMed id 11481040)1, 2, 9 Hattori A.... Tsujimoto M. (2001)
    7. Characterization of recombinant human adipocyte-derived leucine aminopeptidase expressed in Chinese hamster ovary cells. (PubMed id 11056387)1, 2, 9 Hattori A.... Tsujimoto M. (2000)
    8. An association between RBMX, a heterogeneous nuclear ribonucleoprotein, and ARTS-1 regulates extracellular TNFR1 release. (PubMed id 18445477)1, 2, 9 Adamik B....Levine S.J. (2008)
    9. The ERAP2 gene is associated with preeclampsia in Aus tralian and Norwegian populations. (PubMed id 19578876)1, 4, 9 Johnson M.P....Moses E.K. (2009)
    10. Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis. (PubMed id 19433412)1, 4, 9 Tsui F.W....Inman R.D. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51752 HGNC: 18173 AceView: ARTS-1 Ensembl:ENSG00000164307 euGenes: HUgn51752
    ECgene: ERAP1 H-InvDB: ERAP1

    (According to HUGE)
    About This Section
    HUGE: KIAA0525

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ERAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ERAP1 gene:
    Search GeneIP for patents involving ERAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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