JPH3
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| Junctophilin 3 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | JPH3; CAGL237; FLJ44707; HDL2; JP-3; JP3; TNRC22 | ||||||||||||
| External IDs | OMIM: 605268 MGI: 1891497 HomoloGene: 10762 GeneCards: JPH3 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 57338 | 57340 | |||||||||||
| Ensembl | ENSG00000154118 | ENSMUSG00000025318 | |||||||||||
| UniProt | Q8WXH2 | Q3ZAS3 | |||||||||||
| RefSeq (mRNA) | NM_020655 | NM_020605.3 | |||||||||||
| RefSeq (protein) | NP_065706 | NP_065630.1 | |||||||||||
| Location (UCSC) | Chr 16: 87.64 – 87.73 Mb |
Chr 8: 124.25 – 124.32 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Junctophilin-3 is a protein that in humans is encoded by the JPH3 gene.[1][2][3]
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family.[3]
[edit] References
- ^ Takeshima H, Komazaki S, Nishi M, Iino M, Kangawa K (Aug 2000). "Junctophilins: a novel family of junctional membrane complex proteins". Mol Cell 6 (1): 11–22. doi:10.1016/S1097-2765(05)00005-5. PMID 10949023.
- ^ Nishi M, Mizushima A, Nakagawara K, Takeshima H (Sep 2000). "Characterization of human junctophilin subtype genes". Biochem Biophys Res Commun 273 (3): 920–7. doi:10.1006/bbrc.2000.3011. PMID 10891348.
- ^ a b "Entrez Gene: JPH3 junctophilin 3". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57338.
[edit] External links
[edit] Further reading
- Margolis RL, Abraham MR, Gatchell SB, et al. (1997). "cDNAs with long CAG trinucleotide repeats from human brain.". Hum. Genet. 100 (1): 114–22. doi:10.1007/s004390050476. PMID 9225980.
- Olin KL, Potter-Perigo S, Barrett PH, et al. (2001). "Biglycan, a vascular proteoglycan, binds differently to HDL2 and HDL3: role of apoE.". Arterioscler. Thromb. Vasc. Biol. 21 (1): 129–35. doi:10.1161/01.ATV.21.1.129. PMID 11145944.
- Holmes SE, O'Hearn E, Rosenblatt A, et al. (2001). "A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.". Nat. Genet. 29 (4): 377–8. doi:10.1038/ng760. PMID 11694876.
- Stevanin G, Camuzat A, Holmes SE, et al. (2002). "CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.". Neurology 58 (6): 965–7. PMID 11914418.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- 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.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Grimsby S, Jaensson H, Dubrovska A, et al. (2005). "Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity.". FEBS Lett. 577 (1-2): 93–100. doi:10.1016/j.febslet.2004.09.069. PMID 15527767.
- Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry.". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1847948.
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