gene

JPH1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about JPH1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

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0Hypotheses

0Analyses

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0Experiments

0Debates

Summary

JPH1 encodes junctophilin 1, a critical protein that forms junctional membrane complexes between the endoplasmic reticulum and plasma membrane. Essential for calcium signaling in neurons and muscle, implicated in cerebellar ataxia, neuromuscular disorders, and neurodegenerative diseases.

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🧬 Gene Info

Gene Symbol	JPH1
Full Name	Junctophilin 1
Aliases	Junctophilin-1, JP-1
Chromosome	8q21.13
Protein Type	ER-plasma membrane tethering protein
Molecular Weight	35 kDa
Amino Acids	303 aa
Ensembl ID	ENSG00000106034
GeneCards	JPH1
Human Protein Atlas	JPH1
Associated Diseases	neurodegeneration
Databases	GeneCards UniProt NCBI Gene HPA STRING

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

JPH1 — Junctophilin 1

gene · 2133 words

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Pathway Diagram

graph TD
    JPH1["JPH1"]
    neurodegeneration["neurodegeneration"]
    JPH1 -->|"implicated in"| neurodegeneration
    Ataxia{"Ataxia"}
    JPH1 -->|"implicated in"| Ataxia
    Neurodegenerative_Diseases{"Neurodegenerative Diseases"}
    JPH1 -->|"implicated in"| Neurodegenerative_Diseases
    Calcium_Signaling(["Calcium Signaling"])
    JPH1 -->|"regulates"| Calcium_Signaling
    CALCIUM["CALCIUM"]
    JPH1 ---|"interacts"| CALCIUM
    style JPH1 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#fff
    style Neurodegenerative_Diseases fill:#4a1a1a,stroke:#ef5350,stroke-width:1px,color:#ef5350
    style Ataxia fill:#4a1a1a,stroke:#ef5350,stroke-width:1px,color:#ef5350
    style Calcium_Signaling fill:#2a2a1a,stroke:#ffd54f,stroke-width:1px,color:#ffd54f

Outgoing (0)

Target	Relation	Type	Str
No outgoing edges

Incoming (0)

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Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning JPH1 in their description or question text

No additional research found