InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: JPH3

Summary

InnateDB Protein

IDBP-45715.5

Last Modified

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

Gene Symbol

JPH3

Protein Name

junctophilin 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000284262

InnateDB Gene

IDBG-45713 (JPH3)

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. JPH3 is brain- specific and appears to have an active role in certain neurons involved in motor coordination and memory.

Subcellular Localization

Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic 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 reticulum membrane, while the N-terminal part associates with the plasma membrane (By similarity). {ECO:0000250}.

Disease Associations

Huntington disease-like 2 (HDL2) [MIM:606438]: Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life. {ECO:0000269PubMed:11914418, ECO:0000269PubMed:14557581}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Specifically expressed in brain. {ECO:0000269PubMed:10891348}.

Comments

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