JPH1

From Wikipedia, the free encyclopedia

Junctophilin 1

Identifiers

JPH1; JP1; DKFZp762L0313; JP-1

External IDs

OMIM: 605266 MGI: 1891495 HomoloGene: 10761

Gene ontology
Molecular Function:	• molecular_function • structural constituent of muscle
Cellular Component:	• microsome • membrane • integral to membrane • sarcoplasmic reticulum • Z disc • junctional membrane complex
Biological Process:	• muscle development • biological_process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_020647 (mRNA)
NP_065698 (protein)

NM_020604 (mRNA)
NP_065629 (protein)

Location

Chr 8: 75.31 - 75.4 Mb

Chr 1: 16.98 - 17.08 Mb

Pubmed search

[1]

[2]

Junctophilin 1, also known as JPH1, 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. This gene is a member of the junctophilin gene family.^[1]

[edit] References

^ ^a ^b Entrez Gene: JPH1 junctophilin 1.

[edit] Further reading

Takeshima H (2003). "Ryanodine receptor and junctional membrane structure.". Nippon Yakurigaku Zasshi 121 (4): 203-10. PMID 12777839.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635-48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
Nusbaum C, Mikkelsen TS, Zody MC, et al. (2006). "DNA sequence and analysis of human chromosome 8.". Nature 439 (7074): 331-5. doi:10.1038/nature04406. PMID 16421571.
Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.". Nat. Biotechnol. 22 (6): 707-16. doi:10.1038/nbt971. PMID 15146197.
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.
Komazaki S, Ito K, Takeshima H, Nakamura H (2002). "Deficiency of triad formation in developing skeletal muscle cells lacking junctophilin type 1.". FEBS Lett. 524 (1-3): 225-9. PMID 12135771.
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.
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.