JPH1

JPH1
Identifiers
AliasesJPH1, JP-1, JP1, CMT2K, junctophilin 1
External IDsMGI: 1891495 HomoloGene: 10761 GeneCards: JPH1
Gene location (Human)
Chr.Chromosome 8 (human)[1]
Band8q21.11Start74,234,700 bp[1]
End74,321,328 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 1: 16.96 – 17.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000104369 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042686 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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. 1 2 "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.


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