JPH3
Sign in to saveAlso known as CAGL237, HDL2, JP-3, JP3, TNRC22, junctophilin 3
thumb|325x325px|Junctophilin-3Junctophilin-3 (JPH3) is a protein residing in humans that is encoded by the JPH3 gene. The gene is approximately 97 kilobases long and is located at chromosomal position 16q24.2. Junctophilin proteins are associated with the formation of junctional membrane complexes, which link the plasma membrane with the endoplasmic reticulum in excitable cells. JPH3 is localized to the brain and is associated with motor coordination and memory neurons.
Gene data
JPH3- Name
- junctophilin 3
- Type
- protein-coding
- Aliases
- CAGL237, HDL2, JP-3, JP3, TNRC22
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. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016].
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 10762
- exact match
- identifiers.org/ncbigene/57338
- genomic end
- 87731762
- genomic start
- 87635441
- cytogenetic location
- 16q24.2
Sources (4)
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thumb|325x325px|Junctophilin-3Junctophilin-3 (JPH3) is a protein residing in humans that is encoded by the JPH3 gene. The gene is approximately 97 kilobases long and is located at chromosomal position 16q24.2. Junctophilin proteins are associated with the formation of junctional membrane complexes, which link the plasma membrane with the endoplasmic reticulum in excitable cells. JPH3 is localized to the brain and is associated with motor coordination and memory neurons.
The protein contains 748 residues and is composed of a C-terminal hydrophobic segment that spans the endoplasmic/sarcoplasmic reticulum membrane and a cytoplasmic domain that displays specific affinity for the plasma membrane, as well as several membrane occupation and recognition nexus repeats involved in plasma membrane binding through interactions with phospholipids.