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ERAP1

ERAP1

Reviewed February 2009

What is the official name of the ERAP1 gene?

The official name of this gene is “endoplasmic reticulum aminopeptidase 1.”

ERAP1 is the gene's official symbol. The ERAP1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ERAP1 gene?

The ERAP1 gene (also known as ERAAP and ARTS1) provides instructions for making a protein called endoplasmic reticulum aminopeptidase 1. As its name suggests, this protein is active in a cellular structure called the endoplasmic reticulum, which is involved in protein processing and transport. This protein is an aminopeptidase, which is an enzyme that cuts (cleaves) other proteins into smaller fragments called peptides.

Endoplasmic reticulum aminopeptidase 1 has two major functions, both of which are important for normal immune system function. First, endoplasmic reticulum aminopeptidase 1 cleaves several proteins called cytokine receptors on the surface of cells. Cleaving these receptors reduces their ability to transmit chemical signals into the cell, which affects the process of inflammation.

Second, endoplasmic reticulum aminopeptidase 1 cleaves many types of proteins into small peptides that can be recognized by the immune system. These peptides are exported to the cell surface, where they attach to major histocompatibility complex (MHC) class I proteins. MHC class I proteins display the peptides to the immune system. If the immune system recognizes the peptides as foreign (such as viral or bacterial peptides), it responds by triggering the infected cell to self-destruct.

How are changes in the ERAP1 gene related to health conditions?

ankylosing spondylitis - associated with the ERAP1 gene

Several variations (polymorphisms) in the ERAP1 gene have been found to influence the risk of ankylosing spondylitis. Each of these variations changes a single protein building block (amino acid) in endoplasmic reticulum aminopeptidase 1. Little is known about the effects of these variations, although researchers believe that changes in the protein's structure could alter either of its two major functions. It is unclear how these changes contribute to a person's risk of ankylosing spondylitis. Other genetic and environmental factors, many of which are unknown, also affect the chance of developing this condition.

Where is the ERAP1 gene located?

Cytogenetic Location: 5q15

Molecular Location on chromosome 5: base pairs 96,760,809 to 96,814,144

The ERAP1 gene is located on the long (q) arm of chromosome 5 at position 15.

The ERAP1 gene is located on the long (q) arm of chromosome 5 at position 15.

More precisely, the ERAP1 gene is located from base pair 96,760,809 to base pair 96,814,144 on chromosome 5.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ERAP1?

You and your healthcare professional may find the following resources about ERAP1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ERAP1 gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ERAP1?

amino acid ; cell ; class ; cytokine ; endoplasmic reticulum ; enzyme ; gene ; immune system ; inflammation ; leucine ; MHC ; necrosis ; Pro ; protein ; receptor ; spondylitis ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (9 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: February 2009
Published: July 7, 2014