JPH1

Junctophilin-1 is a protein that in humans is encoded by the JPH1 gene.[5][6][7]

JPH1
Identifiers
Aliases	JPH1, JP-1, JP1, CMT2K, junctophilin 1
External IDs	OMIM: 605266 MGI: 1891495 HomoloGene: 10761 GeneCards: JPH1
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q21.11 Start 74,234,700 bp[1] End 74,321,540 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 A3 Start 16,964,560 bp[2] End 17,097,889 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • structural constituent of muscle • molecular function • calcium-release channel activity Cellular component • sarcoplasmic reticulum membrane • endoplasmic reticulum membrane • cell membrane • membrane • sarcoplasmic reticulum • junctional sarcoplasmic reticulum membrane • integral component of membrane • junctional membrane complex • endoplasmic reticulum • Z disc • cell nucleus • nucleoplasm Biological process • regulation of ryanodine-sensitive calcium-release channel activity • muscle organ development • calcium ion transport into cytosol • release of sequestered calcium ion into cytosol Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	56704	57339
Ensembl	ENSG00000104369	ENSMUSG00000042686
UniProt	Q9HDC5 Q86VR1	Q9ET80
RefSeq (mRNA)	NM_020647 NM_001317830 NM_001363050 NM_001363051	NM_020604
RefSeq (protein)	NP_001304759 NP_065698 NP_001349979 NP_001349980 NP_065698.1	NP_065629
Location (UCSC)	Chr 8: 74.23 – 74.32 Mb	Chr 1: 16.96 – 17.1 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000104369 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000042686 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "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. S2CID 7827573.
• 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. S2CID 27764390.
• 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. S2CID 9826632.