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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]
ERAP1 (Endoplasmic Reticulum Aminopeptidase 1) is a Protein Coding gene. Diseases associated with ERAP1 include Behcet Syndrome and Birdshot Chorioretinopathy. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include metallopeptidase activity and metalloexopeptidase activity. An important paralog of this gene is ERAP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004177 | aminopeptidase activity | IEA,IDA | 10220586 |
GO:0005138 | interleukin-6 receptor binding | IPI | 12748171 |
GO:0005151 | interleukin-1, type II receptor binding | TAS | 15691326 |
GO:0005515 | protein binding | IPI | 18445477 |
GO:0008233 | peptidase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IDA | 11056387 |
GO:0005615 | extracellular space | HDA | 16502470 |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005783 | endoplasmic reticulum | NAS | 12748171 |
GO:0005788 | endoplasmic reticulum lumen | TAS | 15691326 |
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 |
Apoptosis and survival TNFR1 signaling pathway
.52
|
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 | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Bradykinin | Investigational | Pharma | Agonist, Full agonist | Endogenous agonist at bradykinin receptors (B2 > B1) | 60 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ERAP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ERAP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ERAP1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Erap1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Erap1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ERAP1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | ERAP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ERAP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | erap1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:56194 30 |
|
||
ERAP1 (2 of 2) 31 |
|
OneToMany | |||
ERAP1 (1 of 2) 31 |
|
OneToMany | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG4467 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | F49B2.6 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708756 | Likely Benign: not provided | 96,901,601(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
708906 | Benign: not provided | 96,767,912(-) | T/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
709742 | Benign: not provided | 96,762,275(-) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT | |
709743 | Benign: not provided | 96,776,435(-) | G/A | SYNONYMOUS_VARIANT | |
712369 | Benign: not provided | 96,788,593(-) | C/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3605865 | CNV | loss | 21293372 |
nsv1021263 | CNV | loss | 25217958 |
nsv1028741 | CNV | gain | 25217958 |
nsv436983 | CNV | loss | 16327808 |
nsv476820 | CNV | novel sequence insertion | 20440878 |
nsv516293 | CNV | gain+loss | 19592680 |
nsv598962 | CNV | gain | 21841781 |
nsv598963 | CNV | gain | 21841781 |
nsv830411 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
behcet syndrome |
|
|
birdshot chorioretinopathy |
|
|
peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads |
|
|
spondylitis |
|
|
knuckle pads |
|
|