Aliases for KDELR1 Gene
External Ids for KDELR1 Gene
Previous GeneCards Identifiers for KDELR1 Gene
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]
GeneCards Summary for KDELR1 Gene
KDELR1 (KDEL Endoplasmic Reticulum Protein Retention Receptor 1) is a Protein Coding gene. Diseases associated with KDELR1 include Syndromic X-Linked Intellectual Disability 94 and Nemaline Myopathy 1. Among its related pathways are Insulin receptor recycling and Golgi-to-ER retrograde transport. Gene Ontology (GO) annotations related to this gene include ER retention sequence binding and KDEL sequence binding. An important paralog of this gene is KDELR2.
UniProtKB/Swiss-Prot Summary for KDELR1 Gene
Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum.