Version 5.4
Homo sapiens Gene: JPH1
Summary
InnateDB Gene IDBG-25854.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol JPH1
Gene Name junctophilin 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000104369
Encoded Proteins
IDBP-25856
junctophilin 1
IDBP-479554
junctophilin 1
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. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:74234700-74321328
Strand Reverse strand
Band q21.11
Transcripts
ENST00000342232 ENSP00000344488
ENST00000518195
ENST00000519947 ENSP00000429652
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0008307 structural constituent of muscle
Biological Process
GO:0007517 muscle organ development
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity
GO:0060402 calcium ion transport into cytosol
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000042686
View Gene Order
ENSBTAG00000008842
Not yet available
Cross-References
SwissProt Q9HDC5
TrEMBL Q4KMX3 Q6AHW6 Q7Z682
UniProt Splice Variant
Entrez Gene 56704
UniGene Hs.657367
RefSeq NM_020647 XM_005251273 XM_005251274 XM_005251275
HUGO HGNC:14201
OMIM 605266
CCDS CCDS6217
HPRD 07286
IMGT
EMBL AB042635 AF110324 BC098299 BC113856 BC114464 BC139832 BC140875 BC140876 BX537756 CH471068 CR627477
GenPept AAH98299 AAI13857 AAI14465 AAI39833 AAI40876 AAI40877 BAB11986 CAD97825 CAH10677 EAW87029
RNA Seq Atlas 56704

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