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
junctophilin 1
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.657367
RefSeq NM_020647 XM_005251273 XM_005251274 XM_005251275
HUGO
OMIM
CCDS CCDS6217
HPRD 07286
IMGT
EMBL
GenPept
RNA Seq Atlas