JPH1

JPH1
Identifiers
Aliases	JPH1, JP-1, JP1, CMT2K, junctophilin 1
External IDs	OMIM: 605266; MGI: 1891495; HomoloGene: 10761; GeneCards: JPH1; OMA:JPH1 - orthologs
Gene location (Human)
Chr.	Chromosome 8 (human)
End	74,321,540 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	17,168,113 bp
RNA expression pattern
	Top expressed in
	quadriceps femoris muscle; ; vastus lateralis muscle; ; tibialis anterior muscle; ; Skeletal muscle tissue of biceps brachii; ; deltoid muscle; ; Skeletal muscle tissue of rectus abdominis; ; gastrocnemius muscle; ; muscle of thigh; ; body of tongue; ; endothelial cell;
	Top expressed in
	triceps brachii muscle; ; sternocleidomastoid muscle; ; temporal muscle; ; digastric muscle; ; ankle; ; muscle of thigh; ; intercostal muscle; ; soleus muscle; ; skeletal muscle tissue; ; medial head of gastrocnemius muscle;
	More reference expression data
	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; plasma membrane; membrane; sarcoplasmic reticulum; junctional sarcoplasmic reticulum membrane; integral component of membrane; junctional membrane complex; endoplasmic reticulum; Z discdkac; 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
	56704
	57339
	ENSG00000104369
	ENSMUSG00000042686
	Q9HDC5; Q86VR1
	Q9ET80
	NM_020647; NM_001317830; NM_001363050; NM_001363051
	NM_020604
	NP_001304759; NP_065698; NP_001349979; NP_001349980; NP_065698.1
	NP_065629
	Wikidata
View/Edit Human	View/Edit Mouse

Junctophilin-1 is a protein that in humans is encoded by the JPH1 gene.⁵⁶⁷

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

GRCh38: Ensembl release 89: ENSG00000104369 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000042686 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"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. Bibcode:2006Natur.439..331N. 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. Bibcode:2002PNAS...9916899M. 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000104369 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10891348-5] 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.

[pmid10949023-6] 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.

[entrez-7] "Entrez Gene: JPH1 junctophilin 1".

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