jph-1 Junctophilin-1 [Caenorhabditis elegans] - Gene

Summary

Official Symbol: jph-1
Official Full Name: Junctophilin-1
Primary source: WormBase:WBGene00002179
Locus tag: CELE_T22C1.7
See related: AllianceGenome:WB:WBGene00002179
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Caenorhabditis elegans (strain: Bristol N2)
Lineage: Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
Summary: 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). [provided by Alliance of Genome Resources, Dec 2024]
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Chromosome I - NC_003279.8 Genomic Context describing neighboring genes

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Caenorhabditis elegans junctophilin has tissue-specific functions and regulates neurotransmission with extended-synaptotagmin.
Title: Caenorhabditis elegans junctophilin has tissue-specific functions and regulates neurotransmission with extended-synaptotagmin.

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Function	Evidence Code	Pubs
enables structural molecule activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in locomotion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of engulfment of apoptotic cell	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
part_of junctional membrane complex	IBA Inferred from Biological aspect of Ancestor more info
part_of junctional membrane complex	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

NP_492193.2

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The following sections contain reference sequences that belong to a specific genome build. Explain