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Junctophilin-3 is a protein that in humans is encoded by the JPH3 gene.[5][6][7]

JPH3
Identifiers
AliasesJPH3, CAGL237, HDL2, JP-3, JP3, TNRC22, junctophilin 3
External IDsMGI: 1891497 HomoloGene: 10762 GeneCards: JPH3
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for JPH3
Genomic location for JPH3
Band16q24.2Start87,601,835 bp[1]
End87,698,156 bp[1]
RNA expression pattern
PBB GE JPH3 220188 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001271604
NM_001271605
NM_020655

NM_020605

RefSeq (protein)

NP_001258533
NP_001258534
NP_065706

NP_065630

Location (UCSC)Chr 16: 87.6 – 87.7 MbChr 8: 121.73 – 121.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000154118 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025318 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: JPH3 junctophilin 3".

External linksEdit

Further readingEdit