Version 5.4
Homo sapiens Gene: JPH3
Summary
InnateDB Gene IDBG-45713.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol JPH3
Gene Name junctophilin 3
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000154118
Encoded Proteins
IDBP-45715
junctophilin 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:87601835-87698156
Strand Forward strand
Band q24.2
Transcripts
ENST00000284262 ENSP00000284262
ENST00000301008
ENST00000537256
ENST00000563609
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0015278 calcium-release channel activity
Biological Process
GO:0007612 learning
GO:0007613 memory
GO:0035640 exploration behavior
GO:0040011 locomotion
GO:0048168 regulation of neuronal 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
GO:0070588 calcium ion transmembrane transport
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:0030314 junctional membrane complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025318
View Gene Order
ENSBTAG00000006899
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.592068
RefSeq NM_020655 XM_006721237
HUGO
OMIM
CCDS CCDS10962
HPRD 05589
IMGT
EMBL
GenPept
RNA Seq Atlas

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