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Jph1 junctophilin 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 297748, updated on 2-Nov-2024

Summary

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Official Symbol
Jph1provided by RGD
Official Full Name
junctophilin 1provided by RGD
Primary source
RGD:1308789
See related
EnsemblRapid:ENSRNOG00000006110 AllianceGenome:RGD:1308789
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Predicted to be a structural constituent of muscle. Predicted to act upstream of or within muscle organ development. Predicted to be located in Z disc; junctional sarcoplasmic reticulum membrane; and nucleoplasm. Predicted to be part of junctional membrane complex. Predicted to be active in endoplasmic reticulum membrane; plasma membrane; and sarcoplasmic reticulum. 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
Biased expression in Muscle (RPKM 546.9), Heart (RPKM 52.9) and 1 other tissue See more
Orthologs
human mouse all
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Genomic context

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See Jph1 in Genome Data Viewer
Location:
5q11
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 5 NC_086023.1 (6813553..6920488)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 5 NC_051340.1 (2030227..2137171)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 5 NC_005104.4 (1417414..1511754)

Chromosome 5 - NC_086023.1Genomic Context describing neighboring genes Neighboring gene primary cilium assembly protein FAM149B1-like Neighboring gene ganglioside-induced differentiation-associated-protein 1 Neighboring gene Annexin A7, pseudogene 4 Neighboring gene small nucleolar RNA SNORA17 Neighboring gene Transmembrane protein 251, pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. 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
  2. [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
  3. Abnormal junctional membrane structures in cardiac myocytes expressing ectopic junctophilin type 1. Komazaki S, et al. FEBS Lett, 2003 May 8. PMID 12729900
  4. Deficiency of triad formation in developing skeletal muscle cells lacking junctophilin type 1. Komazaki S, et al. FEBS Lett, 2002 Jul 31. PMID 12135771
  5. Ca2+-dependent proteolysis of junctophilin-1 and junctophilin-2 in skeletal and cardiac muscle. Murphy RM, et al. J Physiol, 2013 Feb 1. PMID 23148318, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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].
Submit: New GeneRIF Correction

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables structural constituent of muscle ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within muscle organ development ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in Z disc ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  
part_of junctional membrane complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of junctional membrane complex ISO
Inferred from Sequence Orthology
more info
  
located_in junctional sarcoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
is_active_in sarcoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sarcoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
junctophilin-1

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_001106630.1 → NP_001100100.1  junctophilin-1

    See identical proteins and their annotated locations for NP_001100100.1

    Status: PROVISIONAL

    Source sequence(s)
    CH473984
    UniProtKB/TrEMBL
    A6JF93, D3ZQ55
    Conserved Domains (2) summary
    PLN03185
    Location:4 → 143
    PLN03185; phosphatidylinositol phosphate kinase; Provisional
    NF033839
    Location:410 → 621
    PspC_subgroup_2; pneumococcal surface protein PspC, LPXTG-anchored form

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086023.1 Reference GRCr8

    Range
    6813553..6920488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006237723.5 → XP_006237785.1  junctophilin-1 isoform X1

    See identical proteins and their annotated locations for XP_006237785.1

    UniProtKB/TrEMBL
    A6JF93, D3ZQ55
    Conserved Domains (2) summary
    PLN03185
    Location:4 → 143
    PLN03185; phosphatidylinositol phosphate kinase; Provisional
    NF033839
    Location:410 → 621
    PspC_subgroup_2; pneumococcal surface protein PspC, LPXTG-anchored form

  2. XM_006237719.5 → XP_006237781.1  junctophilin-1 isoform X1

    See identical proteins and their annotated locations for XP_006237781.1

    UniProtKB/TrEMBL
    A6JF93, D3ZQ55
    Conserved Domains (2) summary
    PLN03185
    Location:4 → 143
    PLN03185; phosphatidylinositol phosphate kinase; Provisional
    NF033839
    Location:410 → 621
    PspC_subgroup_2; pneumococcal surface protein PspC, LPXTG-anchored form

  3. XM_039109388.2 → XP_038965316.1  junctophilin-1 isoform X1

    UniProtKB/TrEMBL
    A6JF93, D3ZQ55
    Conserved Domains (2) summary
    PLN03185
    Location:4 → 143
    PLN03185; phosphatidylinositol phosphate kinase; Provisional
    NF033839
    Location:410 → 621
    PspC_subgroup_2; pneumococcal surface protein PspC, LPXTG-anchored form

  4. XM_006237721.5 → XP_006237783.1  junctophilin-1 isoform X1

    See identical proteins and their annotated locations for XP_006237783.1

    UniProtKB/TrEMBL
    A6JF93, D3ZQ55
    Conserved Domains (2) summary
    PLN03185
    Location:4 → 143
    PLN03185; phosphatidylinositol phosphate kinase; Provisional
    NF033839
    Location:410 → 621
    PspC_subgroup_2; pneumococcal surface protein PspC, LPXTG-anchored form

  5. XM_006237720.5 → XP_006237782.1  junctophilin-1 isoform X1

    See identical proteins and their annotated locations for XP_006237782.1

    UniProtKB/TrEMBL
    A6JF93, D3ZQ55
    Related
    ENSRNOP00000008153.3, ENSRNOT00000008153.7
    Conserved Domains (2) summary
    PLN03185
    Location:4 → 143
    PLN03185; phosphatidylinositol phosphate kinase; Provisional
    NF033839
    Location:410 → 621
    PspC_subgroup_2; pneumococcal surface protein PspC, LPXTG-anchored form

  6. XM_006237722.5 → XP_006237784.1  junctophilin-1 isoform X1

    See identical proteins and their annotated locations for XP_006237784.1

    UniProtKB/TrEMBL
    A6JF93, D3ZQ55
    Conserved Domains (2) summary
    PLN03185
    Location:4 → 143
    PLN03185; phosphatidylinositol phosphate kinase; Provisional
    NF033839
    Location:410 → 621
    PspC_subgroup_2; pneumococcal surface protein PspC, LPXTG-anchored form
Nucleotide Protein Strain
Heading Accession and Version

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