Mus musculus Protein: Jph4
Summary
InnateDB Protein IDBP-163216.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Jph4
Protein Name junctophilin 4
Synonyms
Species Mus musculus
Ensembl Protein ENSMUSP00000022819
InnateDB Gene IDBG-163214 (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. {ECO:0000269PubMed:16809425}.
Subcellular Localization Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000269PubMed:16809425}; Single-pass type IV membrane protein {ECO:0000269PubMed:16809425}. 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 Specifically expressed in brain. Highest levels in the olfactory tubercle, caudate putamen, nucleus accumbens, hippocampal formation, piriform cortex and cerebellar cortex. Expressed in disctete neurons sites. In hippocampal formation, expressed in dendrites of hippocampal pyramidal and denate granule cells. In cerebellum, it is highly expressed in Purkinje cells, while it is weakly expressed in granular cells. {ECO:0000269PubMed:14559359, ECO:0000269PubMed:16809425}.
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
GO:0003674 molecular_function
Biological Process
GO:0007612 learning
GO:0048167 regulation of synaptic plasticity
GO:0050885 neuromuscular process controlling balance
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0005790 smooth endoplasmic reticulum
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0043198 dendritic shaft
Protein Structure and Domains
PDB ID MGI:2443113
InterPro IPR003409 MORN motif
IPR017191 Junctophilin
PFAM PF02493
PRINTS
PIRSF PIRSF037387
SMART SM00698
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q80WT0
PhosphoSite PhosphoSite-Q80WT0
TrEMBL
UniProt Splice Variant
Entrez Gene 319984
UniGene Mm.486015
RefSeq NP_796023
MGI ID
MGI Symbol Jph4
OMIM
CCDS CCDS27109
HPRD
IMGT
EMBL AB099712 AK031092 AK148135 AY341261 BC052049 BC052376 BC052722 CH466535
GenPept AAH52049 AAH52376 AAH52722 AAR08903 BAC27249 BAD01498 BAE28365 EDL36304