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JPH1

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JPH1
Identifiers
AliasesJPH1, JP-1, JP1, CMT2K, junctophilin 1
External IDsOMIM: 605266; MGI: 1891495; HomoloGene: 10761; GeneCards: JPH1; OMA:JPH1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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: 17.03 – 17.17 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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000104369Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042686Ensembl, 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. ^ a b "Entrez Gene: JPH1 junctophilin 1".

Further reading

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