Junctophilin family search

The junctophilin family of proteins: From bench to bedside

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JUNCTOPHILIN TYPE 1 AND SKELETAL MUSCLE. JPH1-encoded JPH1 is the major JPH family member expressed in skeletal muscle but also demonstrates a low level of expression in the heart.JPH1 contains 5 coding exons localizing to 8q21 and encodes a 658 amino acid 90 kDa protein in humans[]. JPH2-encoded JPH2 is also expressed in skeletal muscle and is the predominant cardiac isoform[].

The junctophilin family of proteins: From bench to bedside

JPH2 - Wikipedia

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Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH1 contributes to the construction of the skeletal muscle triad by linking the t ...

JPH2 - Wikipedia

JPH1 - Junctophilin-1 - Homo sapiens (Human) - JPH1 gene ...

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57340 Ensembl ENSG00000154118 ENSMUSG00000025318 UniProt Q8WXH2 Q9ET77 RefSeq (mRNA) NM_001271604 NM_001271605 NM_020655 NM_020605 RefSeq (protein) NP_001258533 NP_001258534 NP_065706 NP_065630 Location (UCSC) Chr 16: 87.6 – 87.7 Mb Chr 8: 121.73 – 121.79 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Junctophilin-3 is a protein that in …

JPH1 - Junctophilin-1 - Homo sapiens (Human) - JPH1 gene ...

JPH3 - Wikipedia

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Since the sentinel discovery of the junctophilin (JPH) family of proteins a decade ago [1], a rapidly progressing body of literature has linked these proteins to critical roles in all excitable cells with implications for human physiology and pathophysiology. Through maintaining critical subcellular architecture, and an emerging function as a direct regulator of calcium-handling proteins ...

JPH3 - Wikipedia

The junctophilin family of proteins: from bench to bedside ...

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Language Label Description Also known as; English: Junctophilin. InterPro Family

The junctophilin family of proteins: from bench to bedside ...

Junctophilin - Wikidata

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Excitable tissues rely on junctional membrane complexes to couple cell surface signals to intracellular channels. The junctophilins have emerged as a family of proteins critical i

Junctophilin - Wikidata

The junctophilin family of proteins: from bench to bedside ...

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The JPH1 gene encodes junctophilin-1, a member of the junctophilin family of highly conserved proteins that contribute to the formation of the junctional membrane complex (JMC) in excitable cells by anchoring the endoplasmic reticulum to the plasma membrane or the sarcoplasmic reticulum to T-tubules in muscle cells, where these structures play a role in controlling intracellular calcium ...

The junctophilin family of proteins: from bench to bedside ...

OMIM Entry - * 605266 - JUNCTOPHILIN 1; JPH1

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5/27/2013 · Finally, junctophilin-2 (JPH2) is a structural protein that localizes to cardiac CRUs and approximates the sarcolemma and the SR membrane. Our recent studies revealed that JPH2 is necessary for maintenance of CRU integrity, and that JPH2 facilitates the communication between LTCCs and ryanodine receptors type 2 (RyR2) on the SR. 4

OMIM Entry - * 605266 - JUNCTOPHILIN 1; JPH1

Junctophilin-2 is necessary for T-tubule maturation during ...

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Search. JPH3 (Redirected from Junctophilin-3) Read in another language Watch this page Edit This article's tone or style may not reflect the encyclopedic tone used on Wikipedia. See Wikipedia's guide to writing better articles for suggestions. (May ...

Junctophilin-2 is necessary for T-tubule maturation during ...

JPH3 - Wikipedia

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Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain-specific and appears to have an active role in certain neurons involved in ...

JPH3 - Wikipedia

JPH3 - Junctophilin-3 - Homo sapiens (Human) - JPH3 gene ...

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The junctophilins have emerged as a family of proteins critical in coordinating the maturation and maintenance of this cellular ultrastructure. Within skeletal and cardiac muscle, junctophilin 1 and junctophilin 2, respectively, couple sarcolemmal and intracellular calcium channels.

JPH3 - Junctophilin-3 - Homo sapiens (Human) - JPH3 gene ...

The junctophilin family of proteins: from bench to bedside ...

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Molecular evolution of the junctophilin gene family . ... Our search also found a low but consistent similarity between JPH and phosphatidylinositol-4-phosphate-5-kinases [PIP(4,5)K] in protists and some plants (data not shown).

The junctophilin family of proteins: from bench to bedside ...

Molecular evolution of the junctophilin gene family

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The JPH3 gene provides instructions for making a protein called junctophilin-3, which is found primarily in the brain. Although the exact function of this protein is unclear, researchers believe that it plays a role in the formation of a structure called the junctional membrane complex.

Molecular evolution of the junctophilin gene family

JPH3 gene - Genetics Home Reference - NIH

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319984 Ensembl ENSG00000092051 ENSMUSG00000022208 UniProt Q96JJ6 Q80WT0 RefSeq (mRNA) NM_032452 NM_001146028 NM_001003829 NM_177049 RefSeq (protein) NP_001139500 NP_115828 NP_796023 Location (UCSC) Chr 14: 23.57 – 23.58 Mb Chr 14: 55.11 – 55.12 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse This gene encodes a member of the junctophilin family …

JPH3 gene - Genetics Home Reference - NIH

JPH4 - Wikipedia

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4/2/2019 · This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]

JPH4 - Wikipedia

JPH2 gene - Genetics Home Reference - NIH

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8/9/2010 · Junctophilin-2 (JPH2) is a membrane-binding protein that plays a key role in the organization of the junctional membrane complex (JMC) in cardiac myocytes. JPH2 is believed to keep the plasma ...

JPH2 gene - Genetics Home Reference - NIH

Emerging role of junctophilin-2 as a regulator of calcium ...

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Epigenomic and Functional Characterization of Junctophilin 3 (JPH3) as a Novel Tumor Suppressor Being Frequently Inactivated by Promoter CpG Methylation in Digestive Cancers . Xiaotong Hu 1 , Yeye Kuang 1, Lili Li 2, Haimei Tang 1, Qinglan Shi 1, Xingsheng Shu 2, Yanjiao Zhang 2, Francis KL Chan 3, Qian Tao 2 , Chao He 1. 1.

Emerging role of junctophilin-2 as a regulator of calcium ...

Epigenomic and Functional Characterization of Junctophilin ...

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Search Identity: Query Sequence: ... repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

Epigenomic and Functional Characterization of Junctophilin ...

Junctophilin-4

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HDL2 is caused by a CTG/CAG repeat expansion. In the CTG orientation, the repeat is located within the alternatively spliced exon 2A of junctophilin‐3 (JPH3), potentially encoding polyleucine and polyalanine, whereas on the strand antisense to JPH3, the repeat is in frame to encode polyglutamine.

Junctophilin-4

Loss of junctophilin‐3 contributes to huntington disease ...

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6/15/2014 · Abstract. Cardiomyocytes rely on a highly specialized subcellular architecture to maintain normal cardiac function. In a little over a decade, junctophilin-2 (JPH2) has become recognized as a cardiac structural protein critical in forming junctional membrane complexes (JMCs), which are subcellular domains essential for excitation–contraction coupling within the heart.

Loss of junctophilin‐3 contributes to huntington disease ...

Emerging roles of junctophilin-2 in the heart and ...

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605268 - JUNCTOPHILIN 3; JPH3 - JP3 - JPH3 Margolis et al. (2001) described a disorder termed Huntington disease-like-2 (HDL2; 606438) segregating in an autosomal dominant pattern in a large pedigree with an unidentified CAG/CTG expansion. Holmes et al. (2001) reported the cloning of this expansion and its localization to a variably spliced exon of JPH3, a gene involved in the formation of ...

Emerging roles of junctophilin-2 in the heart and ...

OMIM Entry - * 605268 - JUNCTOPHILIN 3; JPH3

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Molecular evolution of the junctophilin gene family Alejandro Garbino,1,2 Ralph J. van Oort,1 Sayali S. Dixit,1 Andrew P. Landstrom,3 Michael J. Ackerman,3 and Xander H. T. Wehrens1,2,4 1Department of Molecular Physiology and Biophysics, 2Translational Biology and Molecular Medicine Program, Baylor

OMIM Entry - * 605268 - JUNCTOPHILIN 3; JPH3

Molecular evolution of the junctophilin gene family

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Junctophilin 2 knockdown interfere with mitochondrium status in ESC‐CMs and cardiogenesis of ES cells* ... Search for more papers by this author. ... The junctophilin family of proteins: from bench to bedside, Trends in Molecular Medicine, 20, 6, (353), (2014). Crossref. Jun ...

Molecular evolution of the junctophilin gene family

Junctophilin 2 knockdown interfere with mitochondrium ...

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Molecular evolution of the junctophilin gene family (Q24657598) From Wikidata. Jump to navigation Jump to search. scientific article. edit. Language Label Description Also known as; English: Molecular evolution of the junctophilin gene family. scientific article. Statements. instance of. scholarly article.

Junctophilin 2 knockdown interfere with mitochondrium ...

Molecular evolution of the junctophilin gene family - Wikidata

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11/16/2012 · Search within. Search term. Advanced Search Citation Search. Search term. Advanced Search Citation Search. Login / Register. Journals. ... It is currently thought that the junctophilin family of proteins are primarily responsible for mediating the close contact between the SR and the cell surface/T‐tubules in both skeletal and cardiac ...

Molecular evolution of the junctophilin gene family - Wikidata

Ca2+‐dependent proteolysis of junctophilin‐1 and ...

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CALL FOR PAPERS Comparative Genomics Molecular evolution of the junctophilin gene family Alejandro Garbino,1,2 Ralph J. van Oort,1 Sayali S. Dixit,1 Andrew P. Landstrom,3 Michael J. Ackerman,3 and ...

Ca2+‐dependent proteolysis of junctophilin‐1 and ...

Alejandro Garbino, Ralph J. van Oort, Sayali S. Dixit ...

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Search term. Advanced Search Citation Search. Search term. Advanced Search Citation Search. Login / Register. ... causes calpain activation in tandem with proteolysis of junctophilin, ... Andrew P. Landstrom, David L. Beavers and Xander H.T. Wehrens, The junctophilin family …

Alejandro Garbino, Ralph J. van Oort, Sayali S. Dixit ...

Ca2+‐dependent proteolysis of junctophilin‐1 and ...

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Molecular evolution of the junctophilin gene family. ... Molecular evolution of the junctophilin gene family. ... Results from BLASTP search showing orthologous sequences and accession numbers ...

Ca2+‐dependent proteolysis of junctophilin‐1 and ...

(PDF) Molecular evolution of the junctophilin gene family

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3/8/2016 · JP4 is the least understood member of the junctophilin family and, together with JP3, is known to play an important role in neurons. Although JP1 and JP2 have specific roles in skeletal and cardiac muscle cells, respectively, JP3 and JP4 have redundant function in the brain.

(PDF) Molecular evolution of the junctophilin gene family

Junctophilin-4, a component of the endoplasmic reticulum ...

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27 JPH4 Silencer Select Pre-designed, Validated, and Custom siRNA in Standard, HPLC, and In-vivo Ready Purities.

Junctophilin-4, a component of the endoplasmic reticulum ...

JPH4 siRNAs - thermofisher.com

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The junctophilin family of proteins: from bench to bedside Trends in Molecular Medicine, Vol. 20, No. 6 Developmental and extracellular matrix-remodeling processes in rosiglitazone-exposed neonatal rat …

JPH4 siRNAs - thermofisher.com

Molecular evolution of the junctophilin gene family ...

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1/1/2018 · Members of the Junctophilin (JPH) protein family have emerged as key actors in all excitable cells, with crucial implications for human pathophysiology. In mammals, this family consists of four members (JPH1-JPH4) that are differentially expressed throughout excitable cells. The analysis of knockout mice lacking JPH subtypes has demonstrated their essential contribution to physiological ...

Molecular evolution of the junctophilin gene family ...

The Drosophila junctophilin gene is functionally ...

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This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]

The Drosophila junctophilin gene is functionally ...

Junctophilin-2 - Pharos: Illuminating the Druggable Genome

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I am interested in the genetic and molecular mechanisms of sudden cardiac arrest in children. I am a physician-scientist trained at the confluence of pediatric cardiology, clinical electrophysiology, human genetics, and molecular biology which I apply towards the care for children with heritable arrhythmic disease of the heart.

Junctophilin-2 - Pharos: Illuminating the Druggable Genome

Andrew Paul Landstrom | Scholars@Duke

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The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

Andrew Paul Landstrom | Scholars@Duke

JPH4 - Anti-JPH4 Antibodies, shRNA, siRNA & Gene ...

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2/1/2017 · Junctophilin-2 (JPH2) is a structural calcium (Ca2+) handling protein, which approximates the cardiomyocyte transverse tubules (TTs) to the sarcoplasmic reticulum. This facilitates communication of the voltage-gated Ca2+ channel and the ryanodine receptor RyR2. A human patient with hypertrophic cardiomyopathy was positive for a JPH2 mutation substituting alanine-405—located within the alpha ...

JPH4 - Anti-JPH4 Antibodies, shRNA, siRNA & Gene ...

Novel Junctophilin-2 Mutation A405S Is Associated With ...

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12/21/2018 · Excitation-contraction (E-C) coupling is fundamental to heart contraction. Junctophilin-2 is a structural protein required for formation of the E-C coupling machinery. During heart disease, stress-activated calpain cleaves junctophilin-2, disrupting the E-C coupling machinery and calcium ion signaling, which compromises cell contraction. Guo et al. found that under stress conditions, calpain ...

Novel Junctophilin-2 Mutation A405S Is Associated With ...
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