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JPH1 junctophilin 1 [ Homo sapiens (human) ]

Gene ID: 56704, updated on 26-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
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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
  • 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)

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 GOA

Function Evidence Code Pubs
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

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