JPH1 - junctophilin 1 Gene

Homo sapiens

Also known as JP1; JP-1; CMT2K

Gene ID: 56704 | Gene type: protein coding

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

JPH1 Protein Structure

MORN

0
200
400
600
661 a.a.

Protein Preferred Names

Protein Names

junctophilin-1

junctophilin type 1

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

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