JPH1

This article is about the gene and protein Junctophilin-1. For the racecar, see Williams 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) [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 17,034,784 bp [2] End 17,168,113 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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: 17.03 – 17.17 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. 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.