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

ERAP1 Gene

protein-coding   GIFtS: 64
GCID: GC05M096124

endoplasmic reticulum aminopeptidase 1
 Explore 21 diseases affiliated with
ERAP1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ERAP1    

Aliases
for ERAP1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Endoplasmic Reticulum Aminopeptidase 11 2     Type 1 Tumor Necrosis Factor Receptor Shedding Aminopeptidase Regulator2 3
A-LAP1 2 3     APPILS2 3
ARTS-11 2 3     ALAP2 5
PILS-AP1 2 3     PILSAP2 5
KIAA05251 3 5     ERAAP2
ARTS12 3 5     Aminopeptidase Regulator Of TNFR1 Shedding2
ERAAP11 2     Endoplasmic Reticulum Aminopeptidase Associated With Antigen Processing2
Adipocyte-Derived Leucine Aminopeptidase2 3     EC 3.4.11.-3
Aminopeptidase PILS2 3     EC 3.4.118
Puromycin-Insensitive Leucyl-Specific Aminopeptidase2 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


Summaries
for ERAP1 gene

(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:
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)

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)


Genomic Views
for ERAP1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_034772.6  
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:
 96,143,892 bp from pter
Size:
 47,379 bases      Orientation:
 minus strand

Proteins
for ERAP1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000296754   ENSP00000406304   ENSP00000425381   ENSP00000427025   ENSP00000422631  
     ENSP00000421697   ENSP00000414374  
    Reactome Protein details: Q9NZ08
    Human Recombinant Protein Products: 
    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 (see all 2): ERAP1
    OriGene Protein Over-expression Lysate (see all 3): 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 ProSpec Recombinant Proteins
    Uscn Proteins for ERAP1

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IDA11056387
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum NAS12748171
    GO:0005788endoplasmic reticulum lumen TAS--
    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

    Assay Products for ERAP1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ERAP1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ERAP1

    Protein Domains /
    Families
    for ERAP1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ERAP1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB001930 Membrane alanyl dipeptidase (M1) family signature

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


    Function
    for ERAP1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): ERAP1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERAP1
    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 plasmid: ERAP1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ERAP1 (see all 4)
    OriGene shRNA RFP: ERAP1
    OriGene siRNA: ERAP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERAP1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ERAP1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ERAP1 (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    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 

    Cell Line
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    Search LifeMap BioReagents cell lines for ERAP1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERAP1

    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177aminopeptidase activity IDA12748171
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005138interleukin-6 receptor binding IPI12748171
    GO:0005151interleukin-1, Type II receptor binding TAS15691326
    GO:0005164tumor necrosis factor receptor binding ----


    ERAP1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ERAP1:
     Decreased melanin production 

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


    Pathways & Interactions
    for ERAP1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune System
    		Immune System1.00
    		Adaptive Immune System0.59
    2TWEAK Pathway
    		Apoptosis and survival_TNFR1 signaling pathway0.40
    		Apoptosis and survival TNFR1 signaling pathway0.40
    3Trimming of peptides in ER
    		Trimming of peptides in ER1.00
    4Antigen processing: Ubiquitination & Proteasome degradation
    		Class I MHC mediated antigen processing & presentation0.83
    5Translocation of peptide bound MHC class I complex to cell surface
    		Antigen Presentation: Folding, assembly and peptide loading of class I MHC0.28

    Pathway sources
    See GeneCards unified pathways
    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

    5        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
    Trimming of peptides in ER



    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



    Drugs & Compounds
    for ERAP1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for ERAP1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    10 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 ENST00000414384(uc010jbm.2)

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 2): ERAP1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERAP1
    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 plasmid: ERAP1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ERAP1 (see all 4)
    OriGene shRNA RFP: ERAP1
    OriGene siRNA: ERAP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERAP1
    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): ERAP1 (NM_001198541)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ERAP1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ERAP1

    Additional cDNA 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):

    Z98524 CB108940 CA395050 BP352702 AA436906 AA765630 AL702989 CD515426 
    BX395862 R50175 BM765543 BQ016692 BC019347 BG057181 AL601936 AI632045 
    AK094985 AL553834 AA251904 T27536 AW293268 AW452755 CA313060 AI634860 

    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

    Expression
    for ERAP1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAATATTGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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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    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ERAP1
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    In Situ
    Assay Products:     
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    Orthologs
    for ERAP1 gene

    (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.

    Orthologs for ERAP1 gene from 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 66(a)
    		 1 ↔ 1
    		 2(26489816-26512810)
    zebrafish
    (Danio rerio)    		 Actinopterygii BC045983.12   -- 77.2(n)   393175  BC045983.1 
    honey bee
    (Apis mellifera)    		 Insecta --
    --
    		 --
    		 31(a)
    28(a)
    		 possible ortholog
    possible ortholog
    		 GroupUn.6298(9080-17993)
    Group4.16(111874-116967)
    worm
    (Caenorhabditis elegans)    		 Secernentea T07F10.16
    F49B2.66
    		 --
    		 23(a)
    23(a)
    		 possible ortholog
    1 ↔ many
    		 V(12859364-12863816)
    I(14331073-14339827)


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

    Paralogs
    for ERAP1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ERAP1 gene
    ENPEP2  TRHDE2  AQPEP2  NPEPPS2  ENSG000001740932  LNPEP2  ANPEP2  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



    Genomic Variants
    for ERAP1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/996 NCBI SNPs in ERAP1 are shown (see all 996)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs362269131,2
    		C--91302812(+) TGTTA-/TTCTG 
                TTCTG     		3 -- int10--------
    rs1998520321,2
    		C--91302816(-) CAGAAC/TAGAAT 3 -- int10--------
    rs265131,2
    		C,F,H,--91302922(-) CAGCAC/TTTACG 3 -- int17Minor allele frequency- T:0.07MN NS EA NA 722
    rs1135214321,2
    		--91303073(+) TAAAAC/TCCACA 3 -- int10--------
    rs117471481,2
    		C,F,A,H,--91303122(+) GGCTAC/TCTCCT 3 -- int15Minor allele frequency- T:0.04NA 264
    rs117403751,2
    		C,F,A,H,--91303156(+) CATTTG/CTGGGT 3 -- int118Minor allele frequency- C:0.06NA NS EA 1746
    rs117471791,2
    		C,F,H,--91303228(+) TTGTGC/TGATTC 3 -- int15Minor allele frequency- T:0.04NA 264
    rs117504641,2
    		C,F,H,--91303290(+) AATCCA/GTCAAT 3 -- int118Minor allele frequency- G:0.06NS EA NA 1766
    rs117381151,2
    		C,F,A,H,--91303331(+) GACCAT/AGATGT 3 -- int116Minor allele frequency- A:0.06NS EA NA 1912
    rs117411001,2
    		C,F,A,H,--91303504(+) ACAGTG/ACAACT 3 -- int15Minor allele frequency- A:0.04NA 264

    HapMap Linkage Disequilibrium report for ERAP1 (96096514 - 96143892 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ERAP1
         1 Indel: 10781
    Human Gene Mutation Database (HGMD): ERAP1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for ERAP1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ERAP1 for disorders           About GeneDecksing

    OMIM gene information: 606832    OMIM disorders: --

    20/21 diseases for ERAP1 (see all 21):    About MalaCards
    ankylosing spondylitis    alcohol dependence    psoriatic arthritis    ankylosis
    leukemia/lymphoma    spondylitis    endometrial carcinoma    hypertension
    endometrial cancer    cervical carcinoma    alcoholism    ovarian carcinoma
    esophageal cancer    esophagitis    cervicitis    arthritis
    carcinoma    psoriasis    leukemia    neuroblastoma

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

    4 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: ERAP1 (30 documents)

    Export disorders for ERAP1 gene to outside databases

    Publications
    for ERAP1 gene

    (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 94):
    (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. 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)
    5. 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)
    6. 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)
    7. Structural basis for antigenic peptide precursor processing by the endoplasmic reticulum aminopeptidase ERAP1. (PubMed id 21478864)1, 2 Nguyen T.T.... Stern L.J. (2011)
    8. Concerted peptide trimming by human ERAP1 and ERAP2 aminopeptidase complexes in the endoplasmic reticulum. (PubMed id 15908954)1, 2 Saveanu L....van Endert P.M. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)

    External Searches for ERAP1 gene

    (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)

    Genome Databases showing ERAP1 gene

    (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

    Other Databases showing ERAP1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0525

    Specialized Databases showing ERAP1 gene

    (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

    Intellectual Property
    for ERAP1 gene

    (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



    Products
    for ERAP1 gene

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    About This Section

     
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