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ERAP1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ERAP1 gene

The ERAP1 gene provides instructions for making an enzyme that processes proteins for the immune system, playing a key role in protecting the body against autoimmune disorders and cancer.

Normal Function

The ERAP1 gene provides instructions for making a protein called endoplasmic reticulum aminopeptidase 1. This protein is active in the endoplasmic reticulum, a cellular structure involved in protein processing and transport. It is an aminopeptidase, an enzyme that cuts (cleaves) other proteins into smaller fragments called peptides.

Endoplasmic reticulum aminopeptidase 1 has two major functions:

  • Cleaving cytokine receptors: It cleaves proteins called cytokine receptors on the surface of cells, reducing their ability to transmit chemical signals and affecting the process of inflammation.
  • Immune system recognition: It cleaves proteins into small peptides that are displayed on the cell surface by major histocompatibility complex (MHC) class I proteins. If the immune system recognizes these peptides as foreign, it triggers the infected cell to self-destruct.

Health Conditions Related to Genetic Changes

Ankylosing spondylitis

Variations (polymorphisms) in the ERAP1 gene have been found to influence the risk of ankylosing spondylitis, a form of chronic inflammatory arthritis that primarily affects the spine.

  • Each ERAP1 gene variant changes a single amino acid in the protein.
  • Individuals with an ERAP1 polymorphism who develop ankylosing spondylitis often also have a variant in the HLA-B gene (specifically, the HLA-B27 variant).
  • Researchers believe these changes in the structure of the enzyme could alter its ability to process proteins or regulate inflammation.

Other Names for This Gene

  • A-LAP
  • adipocyte-derived leucine aminopeptidase
  • ALAP
  • aminopeptidase PILS
  • aminopeptidase regulator of TNFR1 shedding
  • APPILS
  • ARTS-1
  • ARTS1
  • ERAAP
  • ERAAP1
  • ERAP1_HUMAN
  • KIAA0525
  • PILS-AP
  • PILSAP
  • puromycin-insensitive leucyl-specific aminopeptidase
  • type 1 tumor necrosis factor receptor shedding aminopeptidase regulator

Frequently Asked Questions

polymorphism in ERAP1 means that a single amino acid in the enzyme is different from the typical sequence. This can affect how the enzyme trims peptides for presentation to the immune system or how it regulates inflammation. In people who also carry the HLA‑B27 variant, the combination can increase the likelihood of developing ankylosing spondylitis, but it does not guarantee the disease. It is a risk factor, not a diagnosis.
No targeted ERAP1 inhibitors are approved for ankylosing spondylitis yet. Current therapies focus on controlling inflammation with NSAIDs, TNF inhibitors, or IL‑17 blockers. Research is ongoing to see if modulating ERAP1 could become a future strategy.
While genetics set the baseline risk, lifestyle factors can influence disease onset. Regular low‑impact exercise, maintaining a healthy weight, avoiding smoking, and early treatment of infections may help delay or lessen symptoms. Discuss with a rheumatologist whether early screening (e.g., imaging or inflammatory markers) is appropriate for you.
Yes. ERAP1 is inherited in an autosomal manner, so each child has a 50 % chance of inheriting the variant if one parent carries it. Genetic counseling can help you understand the implications for family planning.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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