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JPH1 - junctophilin 1 Gene

Also Known as JP1; JP-1; CMT2K

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56704

About JPH1

Cytogenetic location: 8q21.11 Genomic coordinates (GRCh38): 8:74,234,700-74,321,540 (from NCBI)

This gene has 3 transcripts (splice variants), 268 orthologues, 3 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 3.3), lung (RPKM 3.1) and 20 other tissues.

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]

JPH1 Products (4)

mRNA	Protein	Name
NM_001317830.2	NP_001304759.1	junctophilin-1
NM_001363050.1	NP_001349979.1	junctophilin-1
NM_001363051.1	NP_001349980.1	junctophilin-1
NM_020647.4	NP_065698.1	junctophilin-1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

JPH1 Protein Structure

MORN

0
200
400
600
661 a.a.

Protein Preferred Names	Protein Names
junctophilin-1	junctophilin type 1

JPH1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	JPH1	Q9HDC5	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	JPH1	Q9HDC5	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	JPH1	Q9HDC5	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	JPH1	Q9HDC5	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	JPH1	Q9HDC5	GPR42	Homo sapiens	O15529	Y2H Prey Pooling	32296183
Intra	JPH1	Q9HDC5	GPR42	Homo sapiens	O15529	Y2H Array	32296183
Intra	JPH1	Q9HDC5	NAT8	Homo sapiens	Q9UHE5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease, Axonal, Type 2k	Charcot-Marie-Tooth Disease Axonal Type 2k CMT2K Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness Arcmt2k Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2k Autosomal Recessive Axonal Cmt4c4 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2k Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2k Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Disease Type 2k Charcot-Marie-Tooth Neuropathy Axonal Type 2k Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease 2k Charcot-Marie-Tooth Disease Neuronal Type 2k Charcot-Marie-Tooth Neuropathy Type 2k Charcot-Marie-Tooth Disease, Type 2k
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Charcot-Marie-Tooth Disease Recessive Intermediate A CMTRIA Ri-Cmta Charcot-Marie-Tooth Disease, Recessive Intermediate, A Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type A Charcot-Marie-Tooth Neuropathy Recessive Intermediate A Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A Ri-Cmt Type A Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, A
Huntington Disease-Like 2	HDL2 Huntington'S Disease-Like 2 Huntington Disease-Like, Type 2
Osteogenesis Imperfecta, Type Iv	Osteogenesis Imperfecta Type 4 Osteogenesis Imperfecta Type Iv OI4 Oi, Type Iv Osteogenesis Imperfecta With Normal Sclerae Oi Type Iv Oi Type 4 Osteogenesis Imperfecta With Normal Sclera Common Variable Oi With Normal Sclerae Osteogenesis Imperfecta 4 Oi-Iv
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07045	JPH1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	JPH1	VGNC	VGNC:42194
Mus musculus	JPH1	MGD	MGI:1891495
Rattus norvegicus	JPH1	RGD	RGD:1308789
Macaca mulatta	JPH1	VGNC	VGNC:104460
Felis catus	JPH1	VGNC	VGNC:63011
Bos taurus	JPH1	VGNC	VGNC:30380
Others	JPH1	NCBI