UniProt UniProt http://www.uniprot.org Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. The Journal of clinical investigation 2009 imex curation Côte M., Ménager MM., Burgess A., Mahlaoui N., Picard C., Schaffner C., Al-Manjomi F., Al-Harbi M., Alangari A., Le Deist F., Gennery AR., Prince N., Cariou A., Nitschke P., Blank U., El-Ghazali G., Ménasché G., Latour S., Fischer A., de Saint Basile G. The IVS14-1 isoform is not in UniProt and there is not enough detail in the paper to create an entry, so data not added. genevieve.de-saint-basile@inserm.fr Only protein-protein interactions imex curation human-293t Homo sapiens 293 cells transformed with SV40 large T antigen 293t 293 cells expressing SV40 large T antigen. The original designation of this cell line was 293tsA1609neo. It is not in Cabri,ATCC or HyperCLDB. anti tag coip anti tag coimmunoprecipitation anti tag coip western blot western blot Immuno blot Immuno blot Côte M., Ménager MM., Burgess A., Mahlaoui N., Picard C., Schaffner C., Al-Manjomi F., Al-Harbi M., Alangari A., Le Deist F., Gennery AR., Prince N., Cariou A., Nitschke P., Blank U., El-Ghazali G., Ménasché G., Latour S., Fischer A., de Saint Basile G. The IVS14-1 isoform is not in UniProt and there is not enough detail in the paper to create an entry, so data not added. genevieve.de-saint-basile@inserm.fr Accepted 2021-JUL-16 AT 16:47 BST AT 16:47 BST by KALPANAP The Journal of clinical investigation 2009 Only protein-protein interactions imex curation imex curation stx11_human Syntaxin-11 STX11 protein protein human Homo sapiens Human MKDRLAELLDLSKQYDQQFPDGDDEFDSPHEDIVFETDHILESLYRDIRDIQDENQLLVADVKRLGKQNARFLTSMRRLSSIKRDTNSIAKAIKARGEVIHCKLRAMKELSEAAEAQHGPHSAVARISRAQYNALTLTFQRAMHDYNQAEMKQRDNCKIRIQRQLEIMGKEVSGDQIEDMFEQGKWDVFSENLLADVKGARAALNEIESRHRELLRLESRIRDVHELFLQMAVLVEKQADTLNVIELNVQKTVDYTGQAKAQVRKAVQYEEKNPCRTLCCFCCPCLK 18E8B43BA987D891 stxb2_human Syntaxin-binding protein 2 STXBP2 UNC18B Protein unc-18 homolog 2 Protein unc-18 homolog B protein protein human Homo sapiens Human MAPSGLKAVVGEKILSGVIRSVKKDGEWKVLIMDHPSMRILSSCCKMSDILAEGITIVEDINKRREPIPSLEAIYLLSPTEKSVQALIKDFQGTPTFTYKAAHIFFTDTCPEPLFSELGRSRLAKVVKTLKEIHLAFLPYEAQVFSLDAPHSTYNLYCPFRAEERTRQLEVLAQQIATLCATLQEYPAIRYRKGPEDTAQLAHAVLAKLNAFKADTPSLGEGPEKTRSQLLIMDRAADPVSPLLHELTFQAMAYDLLDIEQDTYRYETTGLSEAREKAVLLDEDDDLWVELRHMHIADVSKKVTELLRTFCESKRLTTDKANIKDLSQILKKMPQYQKELNKYSTHLHLADDCMKHFKGSVEKLCSVEQDLAMGSDAEGEKIKDSMKLIVPVLLDAAVPAYDKIRVLLLYILLRNGVSEENLAKLIQHANVQAHSSLIRNLEQLGGTVTNPGGSGTSSRLEPRERMEPTYQLSRWTPVIKDVMEDAVEDRLDRNLWPFVSDPAPTASSQAAVSARFGHWHKNKAGIEARAGPRLIVYVMGGVAMSEMRAAYEVTRATEGKWEVLIGSSHILTPTRFLDDLKALDKKLEDIALP 98E27B55309168A9 stx11-stxbp2-6 1 2 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed cell lysate cell lysate n-terminal flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged n-term range n-terminal range n-term range n-term range n-terminal range n-term range 3 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed cell lysate cell lysate n-terminal egfp tag enhanced green fluorescent protein tag enhanced green fluorescent protein EGFP enhanced green fluorescent protein EGFP egfp tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range physical association physical association Supp. Fig. 1 Splice mutant of STXBP2 - IVS14-1G>C [NM_006949.4:c.1247-1G>C/rs140148806] was still able to interact with STX11