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    Jph1 junctophilin 1 [ Mus musculus (house mouse) ]

    Gene ID: 57339, updated on 23-May-2018
    Official Symbol
    Jph1provided by MGI
    Official Full Name
    junctophilin 1provided by MGI
    Primary source
    MGI:MGI:1891495
    See related
    Ensembl:ENSMUSG00000042686 Vega:OTTMUSG00000048149
    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
    Expression
    Broad expression in bladder adult (RPKM 4.8), cerebellum adult (RPKM 3.9) and 18 other tissues See more
    Orthologs
    See Jph1 in Genome Data Viewer
    Location:
    1; 1 A3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 1 NC_000067.6 (16942104..17097904, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (16987545..17087879, complement)

    Chromosome 1 - NC_000067.6Genomic Context describing neighboring genes Neighboring gene lymphocyte antigen 96 Neighboring gene TOX high mobility group box family member 4 pseudogene Neighboring gene predicted gene, 46085 Neighboring gene predicted gene, 31982 Neighboring gene predicted gene 28783

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    calcium-release channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    structural constituent of muscle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    junctional membrane complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    junctional membrane complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    junctional sarcoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    junctophilin-1
    Names
    junctophilin type 1
    mitsugumin72

    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_020604.2NP_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
      Q9ET80
      Related
      ENSMUSP00000039072.4, OTTMUSP00000067462, ENSMUST00000038382.4, OTTMUST00000123660
      Conserved Domains (1) summary
      pfam02493
      Location:304326
      MORN; MORN repeat

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000067.6 Reference GRCm38.p4 C57BL/6J

      Range
      16942104..17097904 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011238399.2XP_011236701.1  junctophilin-1 isoform X1

      See identical proteins and their annotated locations for XP_011236701.1

      UniProtKB/Swiss-Prot
      Q9ET80
      Conserved Domains (1) summary
      pfam02493
      Location:304326
      MORN; MORN repeat
    2. XM_011238398.2XP_011236700.1  junctophilin-1 isoform X1

      See identical proteins and their annotated locations for XP_011236700.1

      UniProtKB/Swiss-Prot
      Q9ET80
      Conserved Domains (1) summary
      pfam02493
      Location:304326
      MORN; MORN repeat
    3. XM_011238396.2XP_011236698.1  junctophilin-1 isoform X1

      See identical proteins and their annotated locations for XP_011236698.1

      UniProtKB/Swiss-Prot
      Q9ET80
      Conserved Domains (1) summary
      pfam02493
      Location:304326
      MORN; MORN repeat
    4. XM_011238397.2XP_011236699.1  junctophilin-1 isoform X1

      See identical proteins and their annotated locations for XP_011236699.1

      UniProtKB/Swiss-Prot
      Q9ET80
      Conserved Domains (1) summary
      pfam02493
      Location:304326
      MORN; MORN repeat

    RNA

    1. XR_001785237.1 RNA Sequence

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