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In response to endoplasmic reticulum (ER) Ca2(+) overloading, assembles into a homotetramer, forming a functional calcium-selective channel facilitating Ca2(+) release (PubMed:27212239). Mediates ER Ca2(+) homeostasis in osteoblasts and plays a key role in bone formation, via the CaMKII-HDAC4-RUNX2 signaling axis (By similarity). Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522). Within the MPT complex, the GEL subcomplex may mediate insertion of transmembrane regions into the membrane (PubMed:36261522)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Ca(2+)(in) = Ca(2+)(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:29671"},{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27212239"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27212239"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32820719"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36261522"}],"value":"Homodimer and homotetramer (PubMed:27212239). Homodimer under resting conditions; forms homotetramers following ER calcium overload (PubMed:27212239). Component of the GET- and EMC-like (GEL) complex, composed of RAB5IF/OPTI and TMCO1 (PubMed:36261522). The GEL complex is part of the multi-pass translocon (MPT) complex, composed of three subcomplexes, the GEL complex (composed of RAB5IF/OPTI and TMCO1), the BOS complex (composed of NCLN/Nicalin, NOMO and TMEM147) and the PAT complex (composed of WDR83OS/Asterix and CCDC47) (PubMed:32820719, PubMed:36261522). The MPT complex associates with the SEC61 complex (PubMed:36261522)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q9UM00-1","intActId":"EBI-11614122"},"interactantTwo":{"uniProtKBAccession":"Q7Z3Y9","geneName":"KRT26","intActId":"EBI-12084444"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10393320"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22714896"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27212239"}],"value":"The first transmembrane region is required for localization to the endoplasmic reticulum (PubMed:27212239). A publication reported localization in cytoplasm and nucleus (PubMed:22714896). Nuclear localization is however in contradiction with two other reports (PubMed:10393320, PubMed:27212239)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10393320"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27212239"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36261522"}],"value":"Endoplasmic reticulum membrane","id":"SL-0097"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10393320"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27212239"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10393320"}],"value":"Golgi apparatus membrane","id":"SL-0134"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10393320"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"C5HGF3"}],"value":"Mitochondrion membrane","id":"SL-0171"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10393320"}],"value":"Multi-pass membrane protein","id":"SL-9909"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing","Alternative initiation"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q9UM00-3"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q9UM00-2"],"sequenceIds":["VSP_019505"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q9UM00-1"],"sequenceIds":["VSP_060086"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10393320"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20018682"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22714896"}],"value":"Widely expressed in adult and fetal tissues, with higher levels in thymus, prostate, testis and small intestine and lower levels in brain, placenta, lung and kidney (PubMed:10393320, PubMed:20018682). Present in most tissues in the eye, including the trabecular meshwork and retina (at protein level) (PubMed:22714896)"}],"commentType":"TISSUE SPECIFICITY"},{"commentType":"DISEASE","disease":{"diseaseId":"Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 1","diseaseAccession":"DI-03178","acronym":"CFSMR1","description":"An autosomal recessive disorder characterized by craniofacial and skeletal anomalies, associated with intellectual disability. 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