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    JPH1 junctophilin 1 [ Homo sapiens (human) ]

    Gene ID: 56704, updated on 3-Nov-2024

    Summary

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    Official Symbol
    JPH1provided by HGNC
    Official Full Name
    junctophilin 1provided by HGNC
    Primary source
    HGNC:HGNC:14201
    See related
    Ensembl:ENSG00000104369 MIM:605266; AllianceGenome:HGNC:14201
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JP1; JP-1; CMT2K; CMYO25
    Summary
    Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in brain (RPKM 3.3), lung (RPKM 3.1) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See JPH1 in Genome Data Viewer
    Location:
    8q21.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (74234700..74321540, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (74663960..74750834, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (75146935..75233775, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene lymphocyte antigen 96 Neighboring gene RNA, U6 small nuclear 1197, pseudogene Neighboring gene uncharacterized LOC105375903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27541 Neighboring gene MPRA-validated peak7074 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:75193255-75194454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19299 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:75213303-75213804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:75232842-75233732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27542 Neighboring gene ganglioside induced differentiation associated protein 1 Neighboring gene microRNA 5681a Neighboring gene microRNA 5681b

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Ryanodine receptor and junctional membrane structure]. Takeshima H. Nihon Yakurigaku Zasshi, 2003 Apr. PMID 12777839
    2. Muscle calcium stress cleaves junctophilin1, unleashing a gene regulatory program predicted to correct glucose dysregulation. Tammineni ER, et al. Elife, 2023 Feb 1. PMID 36724092, Free PMC Article
    3. Association of SNP in JPH1 gene with severity of disease in Charcot Marie Tooth 2K patients. Kanwal S, et al. J Pak Med Assoc, 2019 Feb. PMID 30804591
    4. Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease. Pla-Martín D, et al. Hum Mol Genet, 2015 Jan 1. PMID 25168384
    5. Characterization of human junctophilin subtype genes. Nishi M, et al. Biochem Biophys Res Commun, 2000 Jul 14. PMID 10891348

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Muscle calcium stress cleaves junctophilin1, unleashing a gene regulatory program predicted to correct glucose dysregulation.
      Title: Muscle calcium stress cleaves junctophilin1, unleashing a gene regulatory program predicted to correct glucose dysregulation.
    2. Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence.
      Title: Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence.
    3. Charcot Marie Tooth 2K patients with early and late onset were analyzed for association of rs139723190 SNP in JPH1 gene responsible for CMT type severe and mild phenotypes.
      Title: Association of SNP in JPH1 gene with severity of disease in Charcot Marie Tooth 2K patients.
    4. Results show that JPH1 and GDAP1 share a common pathway and depend on each other; therefore, JPH1 can contribute to the phenotypical consequences of GDAP1 mutations.
      Title: Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.
    5. This study suggests that genetic variants of JPH1 may modulate the effect of smoking on carotid plaque burden.
      Title: Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics.
    6. 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.
    7. 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.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp762L0313

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of muscle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in calcium ion transport into cytosol TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of ryanodine-sensitive calcium-release channel activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of junctional membrane complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of junctional membrane complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in junctional sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in sarcoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    junctophilin-1
    Names
    junctophilin type 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.

    Genomic

    1. NG_046331.1 RefSeqGene

      Range
      4788..91628
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001317830.2 → NP_001304759.1  junctophilin-1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC087792, AF110324, BC140875, BU687964, BX537756
      Consensus CDS
      CCDS6217.1
      UniProtKB/Swiss-Prot
      B2RTZ0, Q9HDC5
      UniProtKB/TrEMBL
      Q4KMX3
      Conserved Domains (2) summary
      PLN03185
      Location:4 → 143
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      COG0810
      Location:434 → 528
      TonB; Periplasmic protein TonB, links inner and outer membranes [Cell wall/membrane/envelope biogenesis]

    2. NM_001363050.1 → NP_001349979.1  junctophilin-1

      Status: REVIEWED

      Source sequence(s)
      AC087792, BC049372, BC140875, BU687964, BX537756
      Consensus CDS
      CCDS6217.1
      UniProtKB/Swiss-Prot
      B2RTZ0, Q9HDC5
      UniProtKB/TrEMBL
      Q4KMX3
      Conserved Domains (2) summary
      PLN03185
      Location:4 → 143
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      COG0810
      Location:434 → 528
      TonB; Periplasmic protein TonB, links inner and outer membranes [Cell wall/membrane/envelope biogenesis]

    3. NM_001363051.1 → NP_001349980.1  junctophilin-1

      Status: REVIEWED

      Source sequence(s)
      AC087792, BC049372, BC140875, BU687964, BX537756
      Consensus CDS
      CCDS6217.1
      UniProtKB/Swiss-Prot
      B2RTZ0, Q9HDC5
      UniProtKB/TrEMBL
      Q4KMX3
      Conserved Domains (2) summary
      PLN03185
      Location:4 → 143
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      COG0810
      Location:434 → 528
      TonB; Periplasmic protein TonB, links inner and outer membranes [Cell wall/membrane/envelope biogenesis]

    4. NM_020647.4 → NP_065698.1  junctophilin-1

      See identical proteins and their annotated locations for NP_065698.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC087792, AF110324, BC049372, BC140875, BU687964, BX537756
      Consensus CDS
      CCDS6217.1
      UniProtKB/Swiss-Prot
      B2RTZ0, Q9HDC5
      UniProtKB/TrEMBL
      Q4KMX3
      Related
      ENSP00000344488.4, ENST00000342232.5
      Conserved Domains (2) summary
      PLN03185
      Location:4 → 143
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      COG0810
      Location:434 → 528
      TonB; Periplasmic protein TonB, links inner and outer membranes [Cell wall/membrane/envelope biogenesis]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      74234700..74321540 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421996.1 → XP_047277952.1  junctophilin-1 isoform X1

      UniProtKB/Swiss-Prot
      B2RTZ0, Q9HDC5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      74663960..74750834 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360855.1 → XP_054216830.1  junctophilin-1 isoform X1

      UniProtKB/Swiss-Prot
      B2RTZ0, Q9HDC5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HDC5.2 GenPept UniProtKB/Swiss-Prot:Q9HDC5

    Gene LinkOut

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

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