Species

Caenorhabditis elegans

Symbol

jph-1

Name

JunctoPHilin 1

Synonyms

CELE_T22C1.7
JP

Biotype

protein coding gene

Automated Description

Predicted to enable structural molecule activity. Involved in locomotion and positive regulation of engulfment of apoptotic cell. Predicted to be located in membrane. Predicted to be part of junctional membrane complex. Predicted to be active in endoplasmic reticulum membrane and plasma membrane. Is expressed in body wall musculature; muscle cell; nerve ring; and neurons. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2K; Huntington's disease-like 2; dilated cardiomyopathy 2E; and hypertrophic cardiomyopathy 17. Orthologous to several human genes including JPH3 (junctophilin 3).

WB Description

jph-1 encodes a junctophilin, a protein that belongs to a transmembrane family of proteins implicated in the formation of the junctional membrane complex that forms between the plasma membrane and the endoplasmic reticulum in excitable cells; this complex facilitates cross-talk between the cell surface and intracellular ionic channels; RNA interference of jph-1 results in a locomotion defect suggesting impaired body-wall muscle function; a jph-1 promoter-gfp fusion reporter is expressed in all muscle cells and certain neurons of the nerve ring.

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR23085

No data available

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources: None
Other Sources: None

Phenotype Term	Annotation details	References
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Disease Associations

Cell color indicative of annotation volume

Gene	Association	Disease Qualifier	Disease	Evidence	Source	Based On	References
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Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Download all Alleles/Variants for all genes of the species

Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

Model name	Experimental condition	Associated Human Diseases	Associated Phenotypes	Modifier	Source
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Sequence Feature Viewer

Genome location

ChrI:7946193...7951593 - (5.40 kb)

Assembly version

WBcel235

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Sequence Details

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Expression

Primary Sources

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

jph-1 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
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Genetic Interactions

jph-1 role	jph-1 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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