JPH1
From Wikipedia, the free encyclopedia
Junctophilin 1
|
||||||||||||||
Identifiers | ||||||||||||||
Symbol(s) | JPH1; JP1; DKFZp762L0313; JP-1 | |||||||||||||
External IDs | OMIM: 605266 MGI: 1891495 HomoloGene: 10761 | |||||||||||||
|
||||||||||||||
RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 56704 | 57339 | ||||||||||||
Ensembl | ENSG00000104369 | ENSMUSG00000042686 | ||||||||||||
Uniprot | Q9HDC5 | Q0VB08 | ||||||||||||
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
[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: . 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: . 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: . 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: . 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: . PMID 10891348.