InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: JPH1

Summary

InnateDB Protein

IDBP-25856.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

JPH1

Protein Name

junctophilin 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000344488

InnateDB Gene

IDBG-25854 (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.

Subcellular Localization

Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Sarcoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Note=Localized 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 (By similarity). {ECO:0000250}.

Disease Associations

Tissue Specificity

Abundantly expressed in skeletal muscle. Very low levels in heart. {ECO:0000269PubMed:10891348}.

Comments

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