JPH1 junctophilin 1 [Homo sapiens (human)] - Gene

Summary

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

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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 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.
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.

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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

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease axonal type 2K MedGen: C1842983 OMIM: 607831 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	Compare labs

EBI GWAS Catalog

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

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

NoName (e-PCR)
- UniSTS:481032

RH45244 (e-PCR)
- UniSTS:15449

D8S551 (e-PCR), detects polymorphism
- UniSTS:2417

D8S1372E (e-PCR)
- UniSTS:151185

D8S551 (e-PCR), detects polymorphism
- UniSTS:29608

D8S1639 (e-PCR)
- UniSTS:35824

RH119873 (e-PCR)
- UniSTS:133618

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

NG_046331.1 RefSeqGene

Range

4788..91628

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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]
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]
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]