Aliases for ERAP1 Gene
Aliases for ERAP1 Gene
- Endoplasmic Reticulum Aminopeptidase 1 2 3 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.- 4
- KIAA0525 4
- ERAAP1 3
- PILSAP 3
- ERAAP 3
- ALAP 3
External Ids for ERAP1 Gene
- HGNC: 18173
- Entrez Gene: 51752
- Ensembl: ENSG00000164307
- OMIM: 606832
- UniProtKB: Q9NZ08
Previous GeneCards Identifiers for ERAP1 Gene
- GC05M096124
- GC05M091286
Summaries 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 Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads and Birdshot Chorioretinopathy. Among its related pathways are Class I MHC mediated antigen processing and presentation and TNFR1 Pathway. Gene Ontology (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.
Additional gene information for ERAP1 Gene
- Monarch Initiative
- Search for ERAP1 at DataMed
- Search for ERAP1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERAP1 Gene
Genomics for ERAP1 Gene
GeneHancer (GH) Regulatory Elements for ERAP1 Gene
Promoters and enhancers for ERAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ERAP1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ERAP1 gene promoter:
-
- Zic3
- HOXA5
- E47
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
- HNF-1A
- HNF-1
- Nkx2-5
- POU2F1c
Regulatory Element Products
Genomic Locations for ERAP1 Gene
Genomic Locations for ERAP1 Gene
- chr5:96,760,810-96,935,924
- (GRCh38/hg38)
- Size:
- 175,115 bases
- Orientation:
- Minus strand
- chr5:96,096,514-96,149,848
- (GRCh37/hg19)
- Size:
- 53,335 bases
- Orientation:
- Minus strand
Genomic View for ERAP1 Gene
Genes around ERAP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q15 by Entrez Gene
- 5q15 by HGNC
- 5q15 by Ensembl
ERAP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for ERAP1 Gene
Post-translational modifications for ERAP1 Gene
- N-glycosylated.
- Glycosylation at Asn901, isoforms=2760, Asn414, isoforms=2154, and Asn70
- Modification sites at PhosphoSitePlus
Other Protein References for ERAP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for ERAP1 (Aminopeptidase PILS/ARTS1)
-
Custom Antibody ServicesOriGene Antibodies for ERAP1
- Novus Biologicals Antibodies for ERAP1
- Invitrogen Antibodies for ERAP1
- GeneTex ERAP1 Antibody for ERAP1
-
Boster Bio Antibodies for ERAP1
-
Custom Antibody ServicesProSci Antibodies for ERAP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ERAP1
Protein Products
- R&D Systems Proteins and Enzymes for ERAP1 (Aminopeptidase PILS/ARTS1)
-
OriGene Purified Proteins for ERAP1
- Search Origene for MassSpec and Protein Over-expression Lysates for ERAP1
- Origene Custom Protein Services for ERAP1
- antibodies-online: Search results for 7 available ERAP1 Proteins ranked by validation data
- Compare Top ERAP1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for ERAP1
Assay Products
- antibodies-online: Search results for 4 available ERAP1 Elisa Kits ranked by validation data
- Compare Top ERAP1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for ERAP1 Gene
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
Protein Domains for ERAP1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ERAP1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NZ08- Family:
-
- Belongs to the peptidase M1 family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004175 | endopeptidase activity | EXP | 12436109 |
| GO:0004177 | aminopeptidase activity | IDA,IEA | 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 |
Phenotypes for ERAP1 Gene
- MGI mutant phenotypes for ERAP1:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for ERAP1:
Animal Models for ERAP1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for ERAP1
- Cyagen custom Knockout/knockin (KOKI) mouse models for ERAP1
-
CRISPR Products
-
OriGene CRISPR knockouts for ERAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERAP1
- genomics-online: gRNA clones - Search results for 108 available ERAP1 gene related products
- Overview of 108 available ERAP1 gene related products
- Applied Biological Materials CRISPR for ERAP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERAP1
- GenScript: Design CRISPR guide RNA sequences for ERAP1
miRNA for ERAP1 Gene
- miRTarBase miRNAs that target ERAP1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ERAP1
- Browse OriGene Inhibitory RNA Products For ERAP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERAP1
- genomics-online: shRNA clones - Search results for 108 available ERAP1 gene related products
- Overview of 108 available ERAP1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ERAP1
- VectorBuilder custom plasmid, inducible vectors for ERAP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ERAP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ERAP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERAP1
- Applied Biological Materials Clones for ERAP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ERAP1
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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| nucleus | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| lysosome | 1 |
- Cytosol (2)
- Nucleoplasm (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IDA | 11056387 |
| GO:0005615 | extracellular space | HDA | 16502470 |
| GO:0005737 | cytoplasm | IBA,IEA | -- |
| GO:0005783 | endoplasmic reticulum | NAS | 12748171 |
| GO:0005788 | endoplasmic reticulum lumen | TAS | 15691326 |
Pathways & Interactions for ERAP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Antigen Presentation- Folding, assembly and peptide loading of class I MHC | ||
| 3 | Innate Immune System |
.61
|
|
| 4 | TNFR1 Pathway | ||
Pathways by source for ERAP1 Gene
1 GeneGo (Thomson Reuters) pathway for ERAP1 Gene
Interacting Proteins for ERAP1 Gene
GPS-Prot Interaction Network for ERAP1
| 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,IBA | -- |
No data available for SIGNOR curated interactions for ERAP1 Gene
Drugs & Compounds for ERAP1 Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for ERAP1 Gene
mRNA/cDNA for ERAP1 Gene
- (14) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (198) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000296754 5495 bps (uc003kml.4)
- ENST00000443439 4805 bps (uc003kmm.4)
- ENST00000503311 463 bps (uc063fpx.1)
- ENST00000503921 551 bps (uc063fpy.1)
- ENST00000507154 583 bps (uc063fqb.1)
Unigene Clusters for ERAP1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ERAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERAP1
- genomics-online: gRNA clones - Search results for 108 available ERAP1 gene related products
- Overview of 108 available ERAP1 gene related products
- Applied Biological Materials CRISPR for ERAP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERAP1
- GenScript: Design CRISPR guide RNA sequences for ERAP1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ERAP1
- Browse OriGene Inhibitory RNA Products For ERAP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERAP1
- genomics-online: shRNA clones - Search results for 108 available ERAP1 gene related products
- Overview of 108 available ERAP1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ERAP1
- VectorBuilder custom plasmid, inducible vectors for ERAP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ERAP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ERAP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERAP1
- Applied Biological Materials Clones for ERAP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for ERAP1 Gene
This gene is overexpressed in Tlymphocyte (7.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERAP1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ERAP1 Gene:
ERAP1SOURCE GeneReport for Unigene cluster for ERAP1 Gene:
Hs.666524mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for ERAP1
- genomics-online: primer clones - Search results for 108 available ERAP1 gene related products
- Overview of 108 available ERAP1 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ERAP1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ERAP1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ERAP1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Erap1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Erap1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ERAP1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | ERAP1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ERAP1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | erap1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zgc:56194 33 |
|
||
| ERAP1 (2 of 2) 34 |
|
OneToMany | |||
| ERAP1 (1 of 2) 34 |
|
OneToMany | |||
| -- 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG4467 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | F49B2.6 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ERAP1: view image
Paralogs for ERAP1 Gene
Variants for ERAP1 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs556623443 | likely-benign, Long QT syndrome | 96,793,922(-) | T/C | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs786205141 | pathogenic, Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | 96,762,313(-) | G/ | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | |
| rs34261036 | benign, not specified | 96,895,352(-) | T/C/G | genic_upstream_transcript_variant, intron_variant | |
| rs59338324 | benign, not specified | 96,765,328(-) | AAAAAAAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAAAAAAAA | genic_downstream_transcript_variant, intron_variant | |
| rs1000039730 | -- | 96,803,695(-) | C/T | 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv830411 | CNV | loss | 17160897 |
| nsv598963 | CNV | gain | 21841781 |
| nsv598962 | CNV | gain | 21841781 |
| nsv516293 | CNV | gain+loss | 19592680 |
| nsv476820 | CNV | novel sequence insertion | 20440878 |
| nsv436983 | CNV | loss | 16327808 |
| nsv1028741 | CNV | gain | 25217958 |
| nsv1021263 | CNV | loss | 25217958 |
| esv3605865 | CNV | loss | 21293372 |
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)
Additional Variant Information for ERAP1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERAP1 Gene
Disorders for ERAP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads |
|
|
| birdshot chorioretinopathy |
|
|
| behcet syndrome |
|
|
| knuckle pads |
|
|
| spondylitis |
|
|
Search ERAP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ERAP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for ERAP1 Gene
Publications for ERAP1 Gene
- 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 58
- 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 58
- Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis. (PMID: 19433412) Tsui FW … Inman RD (Annals of the rheumatic diseases 2010) 3 22 44 58
- 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 44 58
- Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus. (PMID: 19110536) Fung EY … Todd JA (Genes and immunity 2009) 3 22 44 58
Products for ERAP1 Gene
- R&D Systems Antibodies for ERAP1 (Aminopeptidase PILS/ARTS1)
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- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
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- Browse Proteins and Enzymes
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- Custom Antibody ServicesOriGene Antibodies for ERAP1
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- GenScript: Next-day shipping of latest version cDNA ORF clones for ERAP1 in any vector
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- GenScript: Design CRISPR guide RNA sequences for ERAP1
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Taconic Biosciences Mouse Models for ERAP1
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- VectorBuilder custom plasmid, inducible vectors for ERAP1
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- Mammalian expression: PiggyBac
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- Addgene plasmids for ERAP1
- antibodies-online: Search results for 70 available ERAP1 Antibodies ranked by validation data
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- Quality Products:
- antibodies-online: Search results for 7 available ERAP1 Proteins ranked by validation data
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- Quality Products:
- GeneTex ERAP1 Antibody for ERAP1
- Search GeneTex for Proteins for ERAP1
- Santa Cruz Biotechnology (SCBT) Antibodies for ERAP1
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- Custom Antibody ServicesProSci Antibodies for ERAP1
- Search for ERAP1 Proteins at ProSci
- Horizon Cell Lines for ERAP1
- genomics-online: cdna clones - Search results for 108 available ERAP1 gene related products
- Overview of 108 available ERAP1 gene related products
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- Overview of 108 available ERAP1 gene related products
- genomics-online: primer clones - Search results for 108 available ERAP1 gene related products
- Overview of 108 available ERAP1 gene related products
- genomics-online: shRNA clones - Search results for 108 available ERAP1 gene related products
- Overview of 108 available ERAP1 gene related products
- Browse GeneCopoeia Cell Lines
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- Boster Bio Antibodies for ERAP1
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Sources for ERAP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt