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    jp junctophilin [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 34274, updated on 9-Dec-2024

    Summary

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    Official Symbol
    jpprovided by FlyBase
    Official Full Name
    junctophilinprovided by FlyBase
    Primary source
    FLYBASE:FBgn0032129
    Locus tag
    Dmel_CG4405
    See related
    AllianceGenome:FB:FBgn0032129
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    CG13115; CG4405; Dmel\CG4405; JP
    Summary
    Predicted to be involved in regulation of cardiac muscle tissue development. Predicted to be part of junctional membrane complex. Predicted to be active in endoplasmic reticulum membrane and plasma membrane. Is expressed in adult head; larval muscle system; and larval somatic muscle cell. Used to study cardiomyopathy. 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]
    Orthologs
    all
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    Genomic context

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    Location:
    30B10-30B12; 2-35 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2L NT_033779.5 (9547720..9566750, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2L NT_033779.4 (9547720..9566750, complement)

    Chromosome 2L - NT_033779.5Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene long non-coding RNA:CR44149 Neighboring gene brickwall Neighboring gene Mitochondrial trifunctional protein alpha subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Important role of junctophilin in nematode motor function. Yoshida M, et al. Biochem Biophys Res Commun, 2001 Nov 23. PMID 11708805
    2. The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway. Calpena E, et al. Dis Model Mech, 2018 Jan 17. PMID 29208631, Free PMC Article
    3. Drosophila retinophilin contains MORN repeats and is conserved in humans. Mecklenburg KL. Mol Genet Genomics, 2007 May. PMID 17285308
    4. Cell-type specific features of circular RNA expression. Salzman J, et al. PLoS Genet, 2013. PMID 24039610, Free PMC Article
    5. The SILAC fly allows for accurate protein quantification in vivo. Sury MD, et al. Mol Cell Proteomics, 2010 Oct. PMID 20525996, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Jp modifies the neuronal degeneration in a Drosophila model of Huntington's disease, and it has uncoveedr an unsuspected functional relationship with the Notch pathway.
      Title: The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway.
    Submit: New GeneRIF Correction

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of cardiac muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    part_of junctional membrane complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    junctophilin
    Names
    CG4405-PA
    CG4405-PB
    CG4405-PC
    CG4405-PD
    CG4405-PE
    CG4405-PF
    jp-PA
    jp-PB
    jp-PC
    jp-PD
    jp-PE
    jp-PF

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NT_033779.5 Reference assembly

      Range
      9547720..9566750 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_164858.2 → NP_723468.1  junctophilin, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_723468.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q7JV09, Q966S5
      Related
      FBpp0079456
      Conserved Domains (2) summary
      PLN03185
      Location:46 → 192
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      pfam02493
      Location:357 → 379
      MORN; MORN repeat

    2. NM_078801.6 → NP_523525.2  junctophilin, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_523525.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q7JV09, Q966S5
      Related
      FBpp0079457
      Conserved Domains (2) summary
      PLN03185
      Location:46 → 192
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      pfam02493
      Location:357 → 379
      MORN; MORN repeat

    3. NM_001382120.1 → NP_001369124.1  junctophilin, isoform F [Drosophila melanogaster]

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q7JV09, Q966S5
      Conserved Domains (2) summary
      PLN03185
      Location:46 → 192
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      pfam02493
      Location:357 → 379
      MORN; MORN repeat

    4. NM_001201829.2 → NP_001188758.1  junctophilin, isoform E [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001188758.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q7JV09, Q966S5
      Conserved Domains (2) summary
      PLN03185
      Location:46 → 192
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      pfam02493
      Location:357 → 379
      MORN; MORN repeat

    5. NM_001103663.1 → NP_001097133.1  junctophilin, isoform C [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001097133.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q6AWN6

    6. NM_001201828.2 → NP_001188757.1  junctophilin, isoform D [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001188757.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q7JV09, Q966S5
      Conserved Domains (2) summary
      PLN03185
      Location:46 → 192
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      pfam02493
      Location:357 → 379
      MORN; MORN repeat
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6AWN6 Q6AWN6
    Q7JV09 Q7JV09
    Q8SXQ0 Q8SXQ0
    Q966S5 Q966S5

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