| RCN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | RCN1, HEL-S-84, PIG20, RCAL, RCN, reticulocalbin 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 602735 MGI: 104559 HomoloGene: 20637 GeneCards: RCN1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Reticulocalbin-1 is a protein that in humans is encoded by the RCN1 gene.[5][6][7]
Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding.[7]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000049449 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000005973 - 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.
- ↑ Kent J, Lee M, Schedl A, Boyle S, Fantes J, Powell M, Rushmere N, Abbott C, van Heyningen V, Bickmore WA (Sep 1997). "The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse". Genomics. 42 (2): 260–7. doi:10.1006/geno.1997.4706. PMID 9192846.
- ↑ Ozawa M (Mar 1996). "Cloning of a human homologue of mouse reticulocalbin reveals conservation of structural domains in the novel endoplasmic reticulum resident Ca(2+)-binding protein with multiple EF-hand motifs". J Biochem. 117 (5): 1113–9. doi:10.1093/oxfordjournals.jbchem.a124815. PMID 8586628.
- 1 2 "Entrez Gene: RCN1 reticulocalbin 1, EF-hand calcium binding domain".
Further reading
- Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
- Taylor TD, Noguchi H, Totoki Y, et al. (2006). "Human chromosome 11 DNA sequence and analysis including novel gene identification". Nature. 440 (7083): 497–500. Bibcode:2006Natur.440..497T. doi:10.1038/nature04632. PMID 16554811.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Ozawa M, Muramatsu T (1993). "Reticulocalbin, a novel endoplasmic reticulum resident Ca(2+)-binding protein with multiple EF-hand motifs and a carboxyl-terminal HDEL sequence". J. Biol. Chem. 268 (1): 699–705. doi:10.1016/S0021-9258(18)54208-3. PMID 8416973.
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