2. Gene
  3. Jph1 - junctophilin 1 Gene

Jph1 - junctophilin 1 Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as Jp1; JP-1

Gene ID: 57339 | Gene type: protein coding

About Jph1

Summary

A structural constituent of muscle. Acts upstream of or within muscle organ development. Located in Z disc; junctional sarcoplasmic reticulum membrane; and plasma membrane. Part of junctional membrane complex. Is expressed in heart and skeletal muscle. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2K. Orthologous to human JPH1 (junctophilin 1). [provided by Alliance of Genome Resources, Apr 2022]

Jph1 Products(1)

mRNA Protein Name
NM_020604.2 NP_065629.1 junctophilin-1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables structural constituent of muscle IMP
IMP: Inferred from mutant phenotype
12135771 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within muscle organ development IMP
IMP: Inferred from mutant phenotype
12135771 MGI
Cellular Component GO Annotation Evidence Reference Source
located in Z disc IDA
IDA: Inferred from direct assay
12135771 MGI
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
10949023 MGI
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
10949023 MGI
part of junctional membrane complex IDA
IDA: Inferred from direct assay
10949023 MGI
located in junctional sarcoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
10949023 MGI
located in plasma membrane IDA
IDA: Inferred from direct assay
10949023 MGI
located in sarcoplasmic reticulum IDA
IDA: Inferred from direct assay
10949023 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

junctophilin-1

junctophilin type 1

mitsugumin72

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS07045 JPH1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Jph1 NCBI NCBI:56704