background:
This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
Function:
Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH4 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory (By similarity).
Subcellular Location:
Cell membrane; Peripheral membrane protein (By similarity). Endoplasmic reticulum membrane; Single-pass type IV membrane protein (By similarity). Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane (By similarity).
Similarity:
Belongs to the junctophilin family.
Contains 8 MORN repeats.
Database links:
Entrez Gene: 84502 Human
Entrez Gene: 319984 Mouse
Entrez Gene: 445271 Rat
SwissProt: Q96JJ6 Human
SwissProt: Q80WT0 Mouse
SwissProt: Q69FB3 Rat
Unigene: 597841 Human
Unigene: 19047 Mouse
Unigene: 163297 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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