Homo sapiens Protein: JPH4
Summary
InnateDB Protein IDBP-236089.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol JPH4
Protein Name junctophilin 4
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000380307
InnateDB Gene IDBG-3382 (JPH4)
Protein Structure
UniProt Annotation
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). {ECO:0000250}.
Subcellular Localization Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. 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). {ECO:0000250}.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007612 learning
GO:0048167 regulation of synaptic plasticity
GO:0050885 neuromuscular process controlling balance
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity
GO:0060402 calcium ion transport into cytosol
Cellular Component
GO:0005790 smooth endoplasmic reticulum
GO:0005886 plasma membrane
GO:0014701 junctional sarcoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0043198 dendritic shaft
Protein Structure and Domains
PDB ID
InterPro IPR003409 MORN motif
IPR017191 Junctophilin
PFAM PF02493
PRINTS
PIRSF PIRSF037387
SMART SM00698
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96JJ6
PhosphoSite PhosphoSite-Q96JJ6
TrEMBL
UniProt Splice Variant
Entrez Gene 84502
UniGene Hs.719358
RefSeq NP_115828
HUGO HGNC:20156
OMIM
CCDS CCDS9603
HPRD 17170
IMGT
EMBL AB058734 AK055345 AL834411 BC055429 CH471078
GenPept AAH55429 BAB47460 BAB70905 CAD39073 EAW66135 EAW66139