KDELR1

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Description

The KDELR1 (KDEL endoplasmic reticulum protein retention receptor 1) is a protein-coding gene located on chromosome 19.

KDELR1, encoded by the KDELR1 gene, plays a crucial role in retaining soluble proteins within the ER lumen. This is achieved by continuously retrieving these proteins from the cis-Golgi or a pre-Golgi compartment. The sorting process relies on a C-terminal tetrapeptide signal, usually KDEL in animal cells, which KDELR1 recognizes and binds to, returning the protein to the ER. While yeast utilizes a single ERD2 gene for this function, humans have a family of KDEL receptor genes, with KDELR1 being the first identified member. It shares structural and functional similarities with the yeast ERD2 gene product. KDELR1 mediates the retrieval of misfolded proteins between the ER and the Golgi apparatus by binding to endoplasmic reticulum chaperones. These chaperones are recognized by the KDEL receptor in downstream compartments of the ER. Once bound, they are packaged into coat protein complex I vesicles for retrograde transport to the ER. In vitro studies in yeast have shown that KDELR1 regulates membrane transport in the early stages of the secretory pathway from ER to the Golgi. Errors or mutations in the KDEL receptor can disrupt ER quality control, leading to diseases associated with ER stress.

KDELR1 acts as a receptor for the KDEL sequence found on endoplasmic reticulum resident proteins, facilitating their retrieval from the Golgi back to the ER.

KDELR1 is also known as ERD2, ERD2.1, HDEL, PM23.

Associated Diseases

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• isolated agammaglobulinemia
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• reticular dysgenesis
• combined immunodeficiency due to ZAP70 deficiency
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• neutropenia, severe congenital, 2, autosomal dominant
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• T-B+ severe combined immunodeficiency due to JAK3 deficiency
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• severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• severe combined immunodeficiency due to DCLRE1C deficiency
• immunodeficiency 75