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    Jph1 junctophilin 1 [ Mus musculus (house mouse) ]

    Gene ID: 57339, updated on 5-Mar-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 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]
    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. [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
    4. A versatile single-plasmid system for tissue-specific and inducible control of gene expression in transgenic mice. Ko JK, et al. FASEB J, 2011 Aug. PMID 21518849, Free PMC Article
    5. Impaired Orai1-mediated resting Ca2+ entry reduces the cytosolic [Ca2+] and sarcoplasmic reticulum Ca2+ loading in quiescent junctophilin 1 knock-out myotubes. Li H, et al. J Biol Chem, 2010 Dec 10. PMID 20937810, Free PMC Article

    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)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (1) 

    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 membrane 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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