// Workers AI · dad joke modeWhat did KDELR2 say to its date? "You're a cell-abration to me
| KDELR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | KDELR2, ELP-1, ERD2.2, KDEL endoplasmic reticulum protein retention receptor 2, OI21, ELP1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 609024; MGI: 1914163; HomoloGene: 129146; GeneCards: KDELR2; OMA:KDELR2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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ER lumen protein retaining receptor 2 is a protein that in humans is encoded by the KDELR2 gene.[5][6][7]
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, 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. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product.[7]
Clinical significance
[edit]Pathogenic variants in KDELR2 have been linked to Osteogenesis imperfecta.[8]
See also
[edit]References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000136240 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000079111 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Hsu VW, Shah N, Klausner RD (May 1992). "A brefeldin A-like phenotype is induced by the overexpression of a human ERD-2-like protein, ELP-1". Cell. 69 (4): 625–635. doi:10.1016/0092-8674(92)90226-3. PMC 7133352. PMID 1316805.
- ↑ Lewis MJ, Pelham HR (August 1992). "Sequence of a second human KDEL receptor". Journal of Molecular Biology. 226 (4): 913–916. doi:10.1016/0022-2836(92)91039-R. PMID 1325562.
- 1 2 "Entrez Gene: KDELR2 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2".
- ↑ Efthymiou S, Herman I, Rahman F, Anwar N, Maroofian R, Yip J, et al. (July 2021). "Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features". American Journal of Medical Genetics. Part A. 185 (7): 2241–2249. doi:10.1002/ajmg.a.62221. PMC 8436746. PMID 33964184.
Further reading
[edit]- Pelham HR (October 1996). "The dynamic organisation of the secretory pathway". Cell Structure and Function. 21 (5): 413–419. doi:10.1247/csf.21.413. PMID 9118249.
- Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- van der Vlies D, Pap EH, Post JA, Celis JE, Wirtz KW (September 2002). "Endoplasmic reticulum resident proteins of normal human dermal fibroblasts are the major targets for oxidative stress induced by hydrogen peroxide". The Biochemical Journal. 366 (Pt 3): 825–830. doi:10.1042/BJ20020618. PMC 1222834. PMID 12071860.
- Xu XR, Huang J, Xu ZG, Qian BZ, Zhu ZD, Yan Q, et al. (December 2001). "Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver". Proceedings of the National Academy of Sciences of the United States of America. 98 (26): 15089–15094. Bibcode:2001PNAS...9815089X. doi:10.1073/pnas.241522398. PMC 64988. PMID 11752456.
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