Version 5.4
Mus musculus Protein: Jph1
Summary
InnateDB Protein IDBP-135534.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Jph1
Protein Name junctophilin 1
Synonyms ENSMUSG00000054314; JP-1; Jp1;
Species Mus musculus
Ensembl Protein ENSMUSP00000039072
InnateDB Gene IDBG-135532 (Jph1)
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. JPH1 contributes to the construction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes. {ECO:0000269PubMed:11535622, ECO:0000269PubMed:12135771, ECO:0000269PubMed:12729900}.
Subcellular Localization Cell membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Single-pass type IV membrane protein. Sarcoplasmic reticulum membrane; Single-pass type IV membrane protein. Note=Predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic/sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. In skeletal muscle cells, it is predominantly localized at the junction of the A and I bands.
Disease Associations
Tissue Specificity Specifically expressed in skeletal muscle. Weakly expressed in embryos and neonates. Abundant in young adult muscles. {ECO:0000269PubMed:10949023, ECO:0000269PubMed:11535622}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0008307 structural constituent of muscle
Biological Process
GO:0007517 muscle organ development
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0014701 junctional sarcoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0016529 sarcoplasmic reticulum
GO:0030018 Z disc
GO:0030314 junctional membrane complex
Protein Structure and Domains
PDB ID MGI:1891495
InterPro IPR003409 MORN motif
IPR017191 Junctophilin
PFAM PF02493
PRINTS
PIRSF PIRSF037387
SMART SM00698
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9ET80
PhosphoSite PhosphoSite-Q9ET80
TrEMBL
UniProt Splice Variant
Entrez Gene 57339
UniGene Mm.143761
RefSeq NP_065629
MGI ID
MGI Symbol Jph1
OMIM
CCDS CCDS14833
HPRD
IMGT
EMBL AB024445 AB024446 BC120839 BC137669
GenPept AAI20840 AAI37670 BAB12043 BAB20319

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca