JPH1

Junctophilin-1 is a protein that in humans is encoded by the JPH1 gene.^[5][6][7]

AliasesJPH1, JP-1, JP1, CMT2K, junctophilin 1

External IDsOMIM: 605266; MGI: 1891495; HomoloGene: 10761; GeneCards: JPH1; OMA:JPH1 - orthologs

Chr.Chromosome 8 (human)^[1]

End74,321,540 bp^[1]

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JPH1
Identifiers
Aliases	JPH1, JP-1, JP1, CMT2K, junctophilin 1
External IDs	OMIM: 605266; MGI: 1891495; HomoloGene: 10761; GeneCards: JPH1; OMA:JPH1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q21.11 Start 74,234,700 bp[1] End 74,321,540 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 A3 Start 17,034,784 bp[2] End 17,168,113 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in quadriceps femoris muscle vastus lateralis muscle tibialis anterior muscle Skeletal muscle tissue of biceps brachii deltoid muscle Skeletal muscle tissue of rectus abdominis gastrocnemius muscle muscle of thigh body of tongue endothelial cell Top expressed in triceps brachii muscle sternocleidomastoid muscle temporal muscle digastric muscle ankle muscle of thigh intercostal muscle soleus muscle skeletal muscle tissue medial head of gastrocnemius muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function structural constituent of muscle molecular function calcium-release channel activity Cellular component sarcoplasmic reticulum membrane endoplasmic reticulum membrane plasma membrane membrane sarcoplasmic reticulum junctional sarcoplasmic reticulum membrane integral component of membrane junctional membrane complex endoplasmic reticulum Z discdkac nucleus nucleoplasm Biological process regulation of ryanodine-sensitive calcium-release channel activity muscle organ development calcium ion transport into cytosol release of sequestered calcium ion into cytosol Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56704 57339 Ensembl ENSG00000104369 ENSMUSG00000042686 UniProt Q9HDC5 Q86VR1 Q9ET80 RefSeq (mRNA) NM_020647 NM_001317830 NM_001363050 NM_001363051 NM_020604 RefSeq (protein) NP_001304759 NP_065698 NP_001349979 NP_001349980 NP_065698.1 NP_065629 Location (UCSC) Chr 8: 74.23 – 74.32 Mb Chr 1: 17.03 – 17.17 Mb PubMed search [3] [4]
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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.^[7]