JPH1

Junctophilin 1
Identifiers
Symbols	JPH1 ; JP-1; JP1
External IDs	OMIM: 605266 MGI: 1891495 HomoloGene: 10761 GeneCards: JPH1 Gene
Gene ontology Molecular function • molecular_function • structural constituent of muscle Cellular component • plasma membrane • junctional sarcoplasmic reticulum membrane • integral component of membrane • Z disc • junctional membrane complex Biological process • muscle organ development • regulation of ryanodine-sensitive calcium-release channel activity • calcium ion transport into cytosol Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE JPH1 gnf1h05714 at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	56704	57339
Ensembl	ENSG00000104369	ENSMUSG00000042686
UniProt	Q9HDC5	Q9ET80
RefSeq (mRNA)	NM_020647	NM_020604
RefSeq (protein)	NP_065698	NP_065629
Location (UCSC)	Chr 8: 74.23 – 74.32 Mb	Chr 1: 16.96 – 17.1 Mb
PubMed search	[1]	[2]

Junctophilin-1 is a protein that in humans is encoded by the JPH1 gene.

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.