Jph1 junctophilin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Jph1provided by MGI
Official Full Name: junctophilin 1provided by MGI
Primary source: MGI:MGI:1891495
See related: Ensembl:ENSMUSG00000042686 AllianceGenome:MGI:1891495
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
Summary: A structural constituent of muscle. Acts upstream of or within muscle organ development. Located in Z disc; junctional sarcoplasmic reticulum membrane; and plasma membrane. Part of junctional membrane complex. Is expressed in several structures, including genitourinary system; heart; liver; skeletal muscle; and spleen. 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, Dec 2024]
Expression: Broad expression in bladder adult (RPKM 4.8), cerebellum adult (RPKM 3.9) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 A3; 1 5.17 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (17012328..17168132, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (16942104..17097922, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dissociation of SH3 and cysteine-rich domain 3 and junctophilin 1 from dihydropyridine receptor in dystrophin-deficient muscles.
Title: Dissociation of SH3 and cysteine-rich domain 3 and junctophilin 1 from dihydropyridine receptor in dystrophin-deficient muscles.
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.
Physical interaction of junctophilin and the CaV1.1 C terminus is crucial for skeletal muscle contraction.
Title: Physical interaction of junctophilin and the Ca(V)1.1 C terminus is crucial for skeletal muscle contraction.
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.
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].
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.
an important fraction of resting plasmalemmal Ca(2+) permeability is mediated by the Orai1 pathway, which contributes to the control of [Ca(2+)](rest) and resting Ca(2+) stores and that this pathway is defective in JP1 KO myotubes
Title: Impaired Orai1-mediated resting Ca2+ entry reduces the cytosolic [Ca2+] and sarcoplasmic reticulum Ca2+ loading in quiescent junctophilin 1 knock-out myotubes.
Skeletal muscle JP1/2 damage is significantly associated with early (0-3 days) strength deficits after performance of eccentric contractions.
Title: Junctophilin damage contributes to early strength deficits and EC coupling failure after eccentric contractions.
Abnormal junctional membrane structures in cardiac myocytes in transgenic mice expressing junctophilin type 1.
Title: Abnormal junctional membrane structures in cardiac myocytes expressing ectopic junctophilin type 1.
We report a novel Junctophilin subtype, JP-4, encoded in the human (chromosome 14q11.1) and mouse (chromosome 14C1-2) genomes. JP-4 shares characteristic structural features with other JP subtypes, and is found in the brain.
Title: Coexpression of junctophilin type 3 and type 4 in brain.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables structural constituent of muscle	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
part_of junctional membrane complex	IBA Inferred from Biological aspect of Ancestor more info
part_of junctional membrane complex	IDA Inferred from Direct Assay more info	PubMed
located_in junctional sarcoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
is_active_in sarcoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: junctophilin-1

Names: junctophilin type 1; mitsugumin72

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)

NM_020604.2 → NP_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

Q0VB08, Q9EQZ3, Q9ET80

Related

ENSMUSP00000039072.5, ENSMUST00000038382.5

Conserved Domains (2) summary

PTZ00449
Location:424 → 621

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

PLN03185
Location:4 → 143

PLN03185; phosphatidylinositol phosphate kinase; Provisional

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

17012328..17168132 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011238398.4 → XP_011236700.1 junctophilin-1 isoform X1

See identical proteins and their annotated locations for XP_011236700.1

UniProtKB/Swiss-Prot

Q0VB08, Q9EQZ3, Q9ET80

Conserved Domains (2) summary

PTZ00449
Location:424 → 621

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

PLN03185
Location:4 → 143

PLN03185; phosphatidylinositol phosphate kinase; Provisional
XM_011238396.4 → XP_011236698.1 junctophilin-1 isoform X1

See identical proteins and their annotated locations for XP_011236698.1

UniProtKB/Swiss-Prot

Q0VB08, Q9EQZ3, Q9ET80

Conserved Domains (2) summary

PTZ00449
Location:424 → 621

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

PLN03185
Location:4 → 143

PLN03185; phosphatidylinositol phosphate kinase; Provisional