JPH1

Junctophilin 1
Identifiers
Symbols	JPH1 ; JP-1; JP1
External IDs	OMIM: 605266 MGI: 1891495 HomoloGene: 10761 GeneCards: JPH1 Gene
Gene ontology Molecular function • molecular_function • structural constituent of muscle Cellular component • plasma membrane • junctional sarcoplasmic reticulum membrane • integral component of membrane • Z disc • junctional membrane complex Biological process • muscle organ development • regulation of ryanodine-sensitive calcium-release channel activity • calcium ion transport into cytosol Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	56704	57339
Ensembl	ENSG00000104369	ENSMUSG00000042686
UniProt	Q9HDC5	Q9ET80
RefSeq (mRNA)	NM_020647	NM_020604
RefSeq (protein)	NP_065698	NP_065629
Location (UCSC)	Chr 8: 74.23 – 74.32 Mb	Chr 1: 16.96 – 17.1 Mb
PubMed search

Junctophilin-1 is a protein that in humans is encoded by the JPH1 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. This gene is a member of the junctophilin gene family.^[3]

References

1. 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.
2. 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.
3. "Entrez Gene: JPH1 junctophilin 1".

Further reading

• Takeshima H (2003). "Ryanodine receptor and junctional membrane structure.". Nippon Yakurigaku Zasshi 121 (4): 203–10. doi:10.1254/fpj.121.203. 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. PMC 139241. 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. doi:10.1016/S0014-5793(02)03042-9. PMID 12135771.