JPH3

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JPH3
Identifiers
Aliases JPH3, CAGL237, HDL2, JP-3, JP3, TNRC22, junctophilin 3
External IDs MGI: 1891497 HomoloGene: 10762 GeneCards: 57338
RNA expression pattern
PBB GE JPH3 220188 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001271604
NM_001271605
NM_020655

NM_020605

RefSeq (protein)

NP_065706.2

NP_065630.1

Location (UCSC) Chr 16: 87.6 – 87.7 Mb Chr 8: 121.73 – 121.79 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Junctophilin-3 is a protein that in humans is encoded by the JPH3 gene.[1][2][3]

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. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family.[3]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: JPH3 junctophilin 3". 

External links[edit]

Further reading[edit]