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jp junctophilin [ Drosophila melanogaster (fruit fly) ]

Gene ID: 34274, updated on 4-Jan-2025

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, Jan 2025]
Orthologs
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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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