{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Maurya AK"],"funding":["National Institutes of Health","NIGMS NIH HHS"],"pagination":["5642-5649.e5"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8692433"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["31(24)"],"pubmed_abstract":["Primary cilia are microtubule (MT)-based organelles that mediate sensory functions in multiple cell types. Disruption of cilia structure or function leads to a diverse collection of diseases termed ciliopathies.<sup>1-3</sup> The highly conserved CCRK and RCK kinases (ICK/MOK/MAK) negatively regulate cilia length and structure in Chlamydomonas, C. elegans, and mammalian cells.<sup>4-10</sup> How the activity of this kinase cascade is tuned to precisely regulate cilia architecture is unclear. Mutations in the Domain of Unknown Function 3719 (DUF3719)-containing protein FAM149B1 have recently been shown to elongate cilia via unknown mechanisms and result in the ciliopathy Joubert syndrome.<sup>11</sup> Here we identify XBX-4, a DUF3719-containing protein related to human FAM149B1, as a regul"],"journal":["Current biology : CB"],"pubmed_title":["xbx-4, a homolog of the Joubert syndrome gene FAM149B1, acts via the CCRK and RCK kinase cascade to regulate cilia morphology."],"pmcid":["PMC8692433"],"funding_grant_id":["R35 GM122463"],"pubmed_authors":["Sengupta P","Maurya AK"],"additional_accession":[]},"is_claimable":false,"name":"xbx-4, a homolog of the Joubert syndrome gene FAM149B1, acts via the CCRK and RCK kinase cascade to regulate cilia morphology.","description":"Primary cilia are microtubule (MT)-based organelles that mediate sensory functions in multiple cell types. Disruption of cilia structure or function leads to a diverse collection of diseases termed ciliopathies.<sup>1-3</sup> The highly conserved CCRK and RCK kinases (ICK/MOK/MAK) negatively regulate cilia length and structure in Chlamydomonas, C. elegans, and mammalian cells.<sup>4-10</sup> How the activity of this kinase cascade is tuned to precisely regulate cilia architecture is unclear. Mutations in the Domain of Unknown Function 3719 (DUF3719)-containing protein FAM149B1 have recently been shown to elongate cilia via unknown mechanisms and result in the ciliopathy Joubert syndrome.<sup>11</sup> Here we identify XBX-4, a DUF3719-containing protein related to human FAM149B1, as a regul","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Dec","modification":"2026-05-31T02:11:46.204Z","creation":"2024-10-16T10:48:21.395Z"},"accession":"S-EPMC8692433","cross_references":{"pubmed":["34731674"],"doi":["10.1016/j.cub.2021.10.027"]}}