JPH1

JPH1
Identifiers
Aliases JPH1, JP-1, JP1, CMT2K, junctophilin 1
External IDs MGI: 1891495 HomoloGene: 10761 GeneCards: JPH1
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

56704

57339

Ensembl

ENSG00000104369

ENSMUSG00000042686

UniProt

Q9HDC5
Q86VR1

Q9ET80

RefSeq (mRNA)

NM_020647
NM_001317830

NM_020604

RefSeq (protein)

NP_065698.1
NP_001304759.1
NP_065698.1

NP_065629.1

Location (UCSC) Chr 8: 74.23 – 74.32 Mb Chr 1: 16.96 – 17.1 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Junctophilin-1 is a protein that in humans is encoded by the JPH1 gene.[3][4][5]

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.[5]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 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.
  5. 1 2 "Entrez Gene: JPH1 junctophilin 1".

Further reading


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