JPH1

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. [provided by RefSeq, Jul 2008]

Description

Junctophilin 1

Tissue specificity

Group enriched (skeletal muscle, tongue)

Subcell location

Nucleoplasm

Predicted location

Membrane

Protein family

Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

8 (74234700 - 74321540)

Ensembl ID

ENSG00000104369  (ver. 103.38)

Orthologs

Mouse Jph1: ENSMUSG00000042686

UniProt

Q9HDC5

neXtProt

NX_Q9HDC5

Human splice variants
Mouse splice variants

Protein structure