JPH3

Junctophilin 3, also known as JPH3, is a human gene.cite web | title = Entrez Gene: JPH3 junctophilin 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57338| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: JPH3 junctophilin 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57338| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Margolis RL, Abraham MR, Gatchell SB, "et al." |title=cDNAs with long CAG trinucleotide repeats from human brain. |journal=Hum. Genet. |volume=100 |issue= 1 |pages= 114–22 |year= 1997 |pmid= 9225980 |doi=
*cite journal | author=Nishi M, Mizushima A, Nakagawara K, Takeshima H |title=Characterization of human junctophilin subtype genes. |journal=Biochem. Biophys. Res. Commun. |volume=273 |issue= 3 |pages= 920–7 |year= 2000 |pmid= 10891348 |doi= 10.1006/bbrc.2000.3011
*cite journal | author=Takeshima H, Komazaki S, Nishi M, "et al." |title=Junctophilins: a novel family of junctional membrane complex proteins. |journal=Mol. Cell |volume=6 |issue= 1 |pages= 11–22 |year= 2000 |pmid= 10949023 |doi=
*cite journal | author=Olin KL, Potter-Perigo S, Barrett PH, "et al." |title=Biglycan, a vascular proteoglycan, binds differently to HDL2 and HDL3: role of apoE. |journal=Arterioscler. Thromb. Vasc. Biol. |volume=21 |issue= 1 |pages= 129–35 |year= 2001 |pmid= 11145944 |doi=
*cite journal | author=Holmes SE, O'Hearn E, Rosenblatt A, "et al." |title=A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. |journal=Nat. Genet. |volume=29 |issue= 4 |pages= 377–8 |year= 2001 |pmid= 11694876 |doi= 10.1038/ng760
*cite journal | author=Stevanin G, Camuzat A, Holmes SE, "et al." |title=CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients. |journal=Neurology |volume=58 |issue= 6 |pages= 965–7 |year= 2002 |pmid= 11914418 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Grimsby S, Jaensson H, Dubrovska A, "et al." |title=Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity. |journal=FEBS Lett. |volume=577 |issue= 1-2 |pages= 93–100 |year= 2005 |pmid= 15527767 |doi= 10.1016/j.febslet.2004.09.069
*cite journal | author=Ewing RM, Chu P, Elisma F, "et al." |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue= |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134

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