JPH4

Junctophilin 4 is a protein in humans that is encoded by the JPH4 gene. [5]

JPH4
Identifiers
Aliases	JPH4, JP4, JPHL1, junctophilin 4
External IDs	MGI: 2443113 HomoloGene: 13034 GeneCards: JPH4
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q11.2 Start 23,568,035 bp[1] End 23,578,790 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 C3 Start 55,106,826 bp[2] End 55,116,935 bp[2]
Gene ontology Molecular function • calcium-release channel activity Cellular component • dendritic shaft • integral component of membrane • cell membrane • endoplasmic reticulum • endoplasmic reticulum membrane • membrane • junctional sarcoplasmic reticulum membrane • smooth endoplasmic reticulum • junctional membrane complex Biological process • regulation of ryanodine-sensitive calcium-release channel activity • calcium ion transport into cytosol • learning • neuromuscular process controlling balance • regulation of synaptic plasticity • regulation of cytokine production • regulation of store-operated calcium entry • release of sequestered calcium ion into cytosol Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	84502	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	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. 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].

References

1. GRCh38: Ensembl release 89: ENSG00000092051 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022208 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Junctophilin 4". Retrieved 2013-04-13.

Further reading