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Jph1 junctophilin 1 [ Mus musculus (house mouse) ]

Gene ID: 57339, updated on 27-Nov-2024

Summary

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Official Symbol
Jph1provided by MGI
Official Full Name
junctophilin 1provided by MGI
Primary source
MGI:MGI:1891495
See related
Ensembl:ENSMUSG00000042686 AllianceGenome:MGI:1891495
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Jp1; JP-1
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 several structures, including genitourinary system; heart; liver; skeletal muscle; and spleen. 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, Nov 2024]
Expression
Broad expression in bladder adult (RPKM 4.8), cerebellum adult (RPKM 3.9) and 18 other tissues See more
Orthologs
human all
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Genomic context

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See Jph1 in Genome Data Viewer
Location:
1 A3; 1 5.17 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (17012328..17168132, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (16942104..17097922, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_00344 Neighboring gene STARR-seq mESC enhancer starr_00345 Neighboring gene TOX high mobility group box family member 4 pseudogene Neighboring gene STARR-seq mESC enhancer starr_00346 Neighboring gene STARR-seq mESC enhancer starr_00347 Neighboring gene STARR-seq mESC enhancer starr_00348 Neighboring gene predicted gene, 53492 Neighboring gene STARR-seq mESC enhancer starr_00349 Neighboring gene STARR-seq mESC enhancer starr_00350 Neighboring gene STARR-seq mESC enhancer starr_00351 Neighboring gene STARR-seq mESC enhancer starr_00352 Neighboring gene STARR-seq mESC enhancer starr_00353 Neighboring gene STARR-seq mESC enhancer starr_00354 Neighboring gene predicted gene, 46085 Neighboring gene predicted gene, 31982 Neighboring gene STARR-seq mESC enhancer starr_00355 Neighboring gene ganglioside-induced differentiation-associated-protein 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Dissociation of SH3 and cysteine-rich domain 3 and junctophilin 1 from dihydropyridine receptor in dystrophin-deficient muscles. Ashida Y, et al. Am J Physiol Cell Physiol, 2022 Sep 1. PMID 35912995
  2. Molecular determinants of homo- and heteromeric interactions of Junctophilin-1 at triads in adult skeletal muscle fibers. Rossi D, et al. Proc Natl Acad Sci U S A, 2019 Jul 30. PMID 31315980, Free PMC Article
  3. Deficiency of triad junction and contraction in mutant skeletal muscle lacking junctophilin type 1. Ito K, et al. J Cell Biol, 2001 Sep 3. PMID 11535622, Free PMC Article
  4. [Expression of Junctophilin 1 during cardiogenesis of mouse embryonic stem cells and rat embryos]. Liang XG, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban, 2012 Jul. PMID 22927069
  5. Abnormal junctional membrane structures in cardiac myocytes expressing ectopic junctophilin type 1. Komazaki S, et al. FEBS Lett, 2003 May 8. PMID 12729900

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dissociation of SH3 and cysteine-rich domain 3 and junctophilin 1 from dihydropyridine receptor in dystrophin-deficient muscles.
    Title: Dissociation of SH3 and cysteine-rich domain 3 and junctophilin 1 from dihydropyridine receptor in dystrophin-deficient muscles.
  2. Molecular determinants of homo- and heteromeric interactions of Junctophilin-1 at triads in adult skeletal muscle fibers.
    Title: Molecular determinants of homo- and heteromeric interactions of Junctophilin-1 at triads in adult skeletal muscle fibers.
  3. Physical interaction of junctophilin and the CaV1.1 C terminus is crucial for skeletal muscle contraction.
    Title: Physical interaction of junctophilin and the Ca(V)1.1 C terminus is crucial for skeletal muscle contraction.
  4. This study demonstrates that both JP1 and JP2 in skeletal muscle undergo Ca2+-dependent proteolysis by endogenous proteases when the intracellular Ca2+ is raised within the physiological range for a sustained period
    Title: Ca2+-dependent proteolysis of junctophilin-1 and junctophilin-2 in skeletal and cardiac muscle.
  5. JP1 gene is expressed during the whole process of cardiogenesis, while JP1 protein only appears during the early stage.
    Title: [Expression of Junctophilin 1 during cardiogenesis of mouse embryonic stem cells and rat embryos].
  6. JP1 and JP2 can facilitate the assembly of DHPR with other proteins of the excitation-contraction coupling machinery
    Title: Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle.
  7. an important fraction of resting plasmalemmal Ca(2+) permeability is mediated by the Orai1 pathway, which contributes to the control of [Ca(2+)](rest) and resting Ca(2+) stores and that this pathway is defective in JP1 KO myotubes
    Title: Impaired Orai1-mediated resting Ca2+ entry reduces the cytosolic [Ca2+] and sarcoplasmic reticulum Ca2+ loading in quiescent junctophilin 1 knock-out myotubes.
  8. Skeletal muscle JP1/2 damage is significantly associated with early (0-3 days) strength deficits after performance of eccentric contractions.
    Title: Junctophilin damage contributes to early strength deficits and EC coupling failure after eccentric contractions.
  9. Abnormal junctional membrane structures in cardiac myocytes in transgenic mice expressing junctophilin type 1.
    Title: Abnormal junctional membrane structures in cardiac myocytes expressing ectopic junctophilin type 1.
  10. We report a novel Junctophilin subtype, JP-4, encoded in the human (chromosome 14q11.1) and mouse (chromosome 14C1-2) genomes. JP-4 shares characteristic structural features with other JP subtypes, and is found in the brain.
    Title: Coexpression of junctophilin type 3 and type 4 in brain.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (1)  1 citation

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables structural constituent of muscle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within muscle organ development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Z disc IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of junctional membrane complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of junctional membrane complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in junctional sarcoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in sarcoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sarcoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sarcoplasmic reticulum TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
junctophilin-1
Names
junctophilin type 1
mitsugumin72

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_020604.2 → NP_065629.1  junctophilin-1

    See identical proteins and their annotated locations for NP_065629.1

    Status: VALIDATED

    Source sequence(s)
    AC135017, BC120839
    Consensus CDS
    CCDS14833.1
    UniProtKB/Swiss-Prot
    Q0VB08, Q9EQZ3, Q9ET80
    Related
    ENSMUSP00000039072.5, ENSMUST00000038382.5
    Conserved Domains (2) summary
    PTZ00449
    Location:424 → 621
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    PLN03185
    Location:4 → 143
    PLN03185; phosphatidylinositol phosphate kinase; Provisional

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    17012328..17168132 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011238398.4 → XP_011236700.1  junctophilin-1 isoform X1

    See identical proteins and their annotated locations for XP_011236700.1

    UniProtKB/Swiss-Prot
    Q0VB08, Q9EQZ3, Q9ET80
    Conserved Domains (2) summary
    PTZ00449
    Location:424 → 621
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    PLN03185
    Location:4 → 143
    PLN03185; phosphatidylinositol phosphate kinase; Provisional

  2. XM_011238396.4 → XP_011236698.1  junctophilin-1 isoform X1

    See identical proteins and their annotated locations for XP_011236698.1

    UniProtKB/Swiss-Prot
    Q0VB08, Q9EQZ3, Q9ET80
    Conserved Domains (2) summary
    PTZ00449
    Location:424 → 621
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    PLN03185
    Location:4 → 143
    PLN03185; phosphatidylinositol phosphate kinase; Provisional

RNA

  1. XR_001785237.3 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9ET80.1 GenPept UniProtKB/Swiss-Prot:Q9ET80

Gene LinkOut

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