{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Du Y"],"funding":["National Key R&D Program of China","National Key R&D Program of China","National Natural Science Foundation of China","Shenzhen Bay Scholars Program"],"pagination":["e202402083"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11457499"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["223(12)"],"pubmed_abstract":["VPS13B/COH1 is the only known causative factor for Cohen syndrome, an early-onset autosomal recessive developmental disorder with intellectual inability, developmental delay, joint hypermobility, myopia, and facial dysmorphism as common features, but the molecular basis of VPS13B/COH1 in pathogenesis remains largely unclear. Here, we identify Sec23 interacting protein (Sec23IP) at the ER exit site (ERES) as a VPS13B adaptor that recruits VPS13B to ERES-Golgi interfaces. VPS13B interacts directly with Sec23IP via the VPS13 adaptor binding domain (VAB), and the interaction promotes the association between ERES and the Golgi. Disease-associated missense mutations of VPS13B-VAB impair the interaction with Sec23IP. Knockout of VPS13B or Sec23IP blocks the formation of tubular ERGIC, an unconven"],"journal":["The Journal of cell biology"],"pubmed_title":["Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation."],"pmcid":["PMC11457499"],"funding_grant_id":["2022YFA1302800","81901166","32122025","92354304","32371343","32270779"],"pubmed_authors":["Xiong J","Fan X","Ji WK","Song C","Du Y","Deng L","Chang W"],"additional_accession":[]},"is_claimable":false,"name":"Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation.","description":"VPS13B/COH1 is the only known causative factor for Cohen syndrome, an early-onset autosomal recessive developmental disorder with intellectual inability, developmental delay, joint hypermobility, myopia, and facial dysmorphism as common features, but the molecular basis of VPS13B/COH1 in pathogenesis remains largely unclear. Here, we identify Sec23 interacting protein (Sec23IP) at the ER exit site (ERES) as a VPS13B adaptor that recruits VPS13B to ERES-Golgi interfaces. VPS13B interacts directly with Sec23IP via the VPS13 adaptor binding domain (VAB), and the interaction promotes the association between ERES and the Golgi. Disease-associated missense mutations of VPS13B-VAB impair the interaction with Sec23IP. Knockout of VPS13B or Sec23IP blocks the formation of tubular ERGIC, an unconven","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Dec","modification":"2026-06-02T20:37:43.261Z","creation":"2026-04-20T03:10:13.632Z"},"accession":"S-EPMC11457499","cross_references":{"pubmed":["39352497"],"doi":["10.1083/jcb.202402083"]}}