ERAP1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ERAP1 |
| Official Name | endoplasmic reticulum aminopeptidase 1 [Source:HGNC Symbol;Acc:HGNC:18173] |
| Ensembl ID | ENSG00000164307 |
| Bio databases IDs | |
| Aliases | endoplasmic reticulum aminopeptidase 1, aminopeptidase regulator of TNFR1 shedding, adipocyte-derived leucine aminopeptidase, puromycin-insensitive leucyl-specific aminopeptidase |
| Synonyms | A-LAP, Aminopeptidase Pils, APPILS, ARTS-1, endoplasmic reticulum aminopeptidase 1, ERAAP, ERAAP1, LOC101929747, PILSA, PILS-AP |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ERAP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- Peptidase family M1 domain
- tumor necrosis factor receptor binding
- metalloexopeptidase
- peptidase
- interleukin-1, Type II receptor binding
- protein binding
- Peptidase M1 N-terminal domain
- endopeptidase
- ERAP1-like C-terminal domain
- zinc ion binding
- interleukin-6 receptor binding
- aminopeptidase
- peptidase GluZincin family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- non-small cell lung cancer
- neoplasia
- psoriasis
- osteoporosis
- hypertension
- peripheral arterial disease
- diabetes mellitus
- Hodgkin lymphoma
- anterior uveitis
role in cell
- expression in
- proliferation
- migration
- activation
- killing
- function
- phagocytosis by
- killing by
- repression in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- endoplasmic reticulum fraction
- insoluble fractions
- Cytoplasm
- perinuclear region
- Nucleus
- Plasma Membrane
- vesicles
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum lumen
- apical membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ERAP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- adaptive immune response
- fat cell differentiation
- antigen processing and presentation of peptide antigen via MHC class I
- regulation of blood pressure
- positive regulation of angiogenesis
- response to bacterium
- peptide catabolic process
- membrane protein ectodomain proteolysis
- angiogenesis
- proteolysis
- regulation of innate immune response
- antigen processing and presentation of endogenous peptide antigen via MHC class I
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- extracellular space
- extracellular vesicular exosome
- cytoplasm
- membrane
- cytosol
- endoplasmic reticulum
- extracellular region
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- interleukin-1, Type II receptor binding
- endopeptidase activity
- metalloaminopeptidase activity
- metalloexopeptidase activity
- aminopeptidase activity
- peptide binding
- interleukin-6 receptor binding