JPH3

From Wikipedia, the free encyclopedia

Junctophilin 3

Identifiers

JPH3; CAGL237; FLJ44707; HDL2; JP-3; JP3; TNRC22

External IDs

OMIM: 605268 MGI: 1891497 HomoloGene: 10762

Gene ontology
Molecular Function:	• molecular_function
Cellular Component:	• endoplasmic reticulum • microsome • membrane • integral to membrane
Biological Process:	• locomotion

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_020655 (mRNA)
NP_065706 (protein)

XM_001001723 (mRNA)
XP_001001723 (protein)

Location

Chr 16: 86.19 - 86.29 Mb

Chr 8: 124.62 - 124.68 Mb

Pubmed search

[1]

[2]

Junctophilin 3, also known as JPH3, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: JPH3 junctophilin 3.

[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. PMID 9225980.
Nishi M, Mizushima A, Nakagawara K, Takeshima H (2000). "Characterization of human junctophilin subtype genes.". Biochem. Biophys. Res. Commun. 273 (3): 920–7. doi:10.1006/bbrc.2000.3011. PMID 10891348.
Takeshima H, Komazaki S, Nishi M, et al. (2000). "Junctophilins: a novel family of junctional membrane complex proteins.". Mol. Cell 6 (1): 11–22. PMID 10949023.
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. 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. PMID 12477932.
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. PMID 15489334.
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: 89. doi:10.1038/msb4100134. PMID 17353931.