KDELR1

KDEL endoplasmic reticulum protein retention receptor 1

Summary

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, which is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. The protein encoded by this gene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 gene product. [provided by RefSeq, Jul 2008]

Known Variants10 total

rsidPosition (GRCh37)AllelesClassClinVar
rs137467626719:48,887,496T/Cuncertain significance
rs251604718119:48,887,530C/Guncertain significance
rs77468720319:48,887,612G/Auncertain significance
rs143294518919:48,887,630G/Auncertain significance
rs19974940719:48,892,756A/G
rs251605119919:48,892,818G/Auncertain significance
rs78075754319:48,892,863C/Tlikely benign
rs77622206519:48,892,878C/Tuncertain significance
rs251605360119:48,894,570T/Cuncertain significance
rs14326561319:48,894,609G/Tuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.