| http://purl.uniprot.org/citations/27212239 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27212239 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27212239 | http://www.w3.org/2000/01/rdf-schema#comment | "Maintaining homeostasis of Ca(2+) stores in the endoplasmic reticulum (ER) is crucial for proper Ca(2+) signaling and key cellular functions. The Ca(2+)-release-activated Ca(2+) (CRAC) channel is responsible for Ca(2+) influx and refilling after store depletion, but how cells cope with excess Ca(2+) when ER stores are overloaded is unclear. We show that TMCO1 is an ER transmembrane protein that actively prevents Ca(2+) stores from overfilling, acting as what we term a "Ca(2+) load-activated Ca(2+) channel" or "CLAC" channel. TMCO1 undergoes reversible homotetramerization in response to ER Ca(2+) overloading and disassembly upon Ca(2+) depletion and forms a Ca(2+)-selective ion channel on giant liposomes. TMCO1 knockout mice reproduce the main clinical features of human cerebrofaciothoracic (CFT) dysplasia spectrum, a developmental disorder linked to TMCO1 dysfunction, and exhibit severe mishandling of ER Ca(2+) in cells. Our findings indicate that TMCO1 provides a protective mechanism to prevent overfilling of ER stores with Ca(2+) ions."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.cell.2016.04.051"xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.cell.2016.04.051"xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Chen Q."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Chen Q."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Liu Y."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Liu Y."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Li X."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Li X."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Guo C."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Guo C."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Sun Z."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Sun Z."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Wang F."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Wang F."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Wang X."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Wang X."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Yu J."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Yu J."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Wang H."xsd:string |
| http://purl.uniprot.org/citations/27212239 | http://purl.uniprot.org/core/author | "Wang H."xsd:string |