KDELR3

Chr 22

KDEL endoplasmic reticulum protein retention receptor 3

Also known as: ERD23, ERD2L3

NCBI Gene: 11015 ENSG00000100196 UniProt: O43731

The protein functions as a receptor that recognizes the KDEL sequence motif on endoplasmic reticulum resident proteins and mediates their retrieval from the Golgi apparatus back to the endoplasmic reticulum. Mutations in KDELR3 cause neurodevelopmental disorders with intellectual disability, seizures, and distinctive facial features, following an autosomal recessive inheritance pattern. The gene shows extremely low constraint against loss-of-function variants, suggesting tolerance to protein disruption in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR3 was the third member of the family to be identified. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.94

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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