UniProt UniProt http://www.uniprot.org Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. Hepatology (0270-9139) 2009 imex curation Folmer D.E., van der Mark V.A., Ho-Mok K.S., Oude Elferink R.P., Paulusma C.C. c.c.paulusma@amc.uva.nl 11-Jun-2014: Contacted by IntAct-Help. Only protein-protein interactions crigr-cho_ups1 Cricetulus griseus CHO-derived UPS-1 mutant cells defective in nonendo- cytic uptake of NBD-PS cho_ups1 CHO-derived UPS-1 mutant cells defective in nonendo- cytic uptake of NBD-PS anti tag coip anti tag coimmunoprecipitation anti tag coip western blot western blot Immuno blot Immuno blot Folmer D.E., van der Mark V.A., Ho-Mok K.S., Oude Elferink R.P., Paulusma C.C. Cells were incubated with proteasomal inhibitor MG-132 Origin of constructs according pmid 17948906 c.c.paulusma@amc.uva.nl Accepted 2014-MAY-15 by ORCHARD Hepatology (0270-9139) 2009 imex curation cc50a_human Cell cycle control protein 50A TMEM30A C6orf67 CDC50A Transmembrane protein 30A P4-ATPase flippase complex beta subunit TMEM30A protein protein human Homo sapiens Human MAMNYNAKDEVDGGPPCAPGGTAKTRRPDNTAFKQQRLPAWQPILTAGTVLPIFFIIGLIFIPIGIGIFVTSNNIREIEIDYTGTEPSSPCNKCLSPDVTPCFCTINFTLEKSFEGNVFMYYGLSNFYQNHRRYVKSRDDSQLNGDSSALLNPSKECEPYRRNEDKPIAPCGAIANSMFNDTLELFLIGNDSYPIPIALKKKGIAWWTDKNVKFRNPPGGDNLEERFKGTTKPVNWLKPVYMLDSDPDNNGFINEDFIVWMRTAALPTFRKLYRLIERKSDLHPTLPAGRYSLNVTYNYPVHYFDGRKRMILSTISWMGGKNPFLGIAYIAVGSISFLLGVVLLVINHKYRNSSNTADITI 64B3F28C3EB7801B at8b1_human Phospholipid-transporting ATPase IC P4-ATPase flippase complex alpha subunit ATP8B1 ATP8B1 ATPIC FIC1 PFIC ATPase class I type 8B member 1 Familial intrahepatic cholestasis type 1 protein protein human Homo sapiens Human MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKESKYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEVIKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNNRLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAGADTKIMKNSGKTRFKRTKIDYLMNYMVYTIFVVLILLSAGLAIGHAYWEAQVGNSSWYLYDGEDDTPSYRGFLIFWGYIIVLNTMVPISLYVSVEVIRLGQSHFINWDLQMYYAEKDTPAKARTTTLNEQLGQIHYIFSDKTGTLTQNIMTFKKCCINGQIYGDHRDASQHNHNKIEQVDFSWNTYADGKLAFYDHYLIEQIQSGKEPEVRQFFFLLAVCHTVMVDRTDGQLNYQAASPDEGALVNAARNFGFAFLARTQNTITISELGTERTYNVLAILDFNSDRKRMSIIVRTPEGNIKLYCKGADTVIYERLHRMNPTKQETQDALDIFANETLRTLCLCYKEIEEKEFTEWNKKFMAASVASTNRDEALDKVYEEIEKDLILLGATAIEDKLQDGVPETISKLAKADIKIWVLTGDKKETAENIGFACELLTEDTTICYGEDINSLLHARMENQRNRGGVYAKFAPPVQESFFPPGGNRALIITGSWLNEILLEKKTKRNKILKLKFPRTEEERRMRTQSKRRLEAKKEQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAITLAIGDGANDVNMIKTAHIGVGISGQEGMQAVMSSDYSFAQFRYLQRLLLVHGRWSYIRMCKFLRYFFYKNFAFTLVHFWYSFFNGYSAQTAYEDWFITLYNVLYTSLPVLLMGLLDQDVSDKLSLRFPGLYIVGQRDLLFNYKRFFVSLLHGVLTSMILFFIPLGAYLQTVGQDGEAPSDYQSFAVTIASALVITVNFQIGLDTSYWTFVNAFSIFGSIALYFGIMFDFHSAGIHVLFPSAFQFTGTASNALRQPYIWLTIILAVAVCLLPVVAIRFLSMTIWPSESDKIQKHRKRLKAEEQWQRRQQVFRRGVSTRRSAYAFSHQRGYADLISSGRSIRKKRSPLDAIVADGTAEYRRTGDS 770FEF3946CB579F tmem30a-atp8b1 1 3 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection c-terminus egfp tag enhanced green fluorescent protein tag enhanced green fluorescent protein EGFP enhanced green fluorescent protein EGFP egfp tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range O43520:p.Gly308Val mutation disrupting mutation disrupting interaction mutation disrupting certain certain sequence position certain certain certain sequence position certain G V Wed May 02 20:30:33 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'gly308val' Tue Jun 30 16:00:44 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Gly308Val' dbSNP:rs28939685. UniProt FTId: VAR_008810 O43520:p.Asp554Asn mutation disrupting mutation disrupting interaction mutation disrupting certain certain sequence position certain certain certain sequence position certain D N Wed May 02 15:21:33 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'asp554asn' Tue Jun 30 18:27:04 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asp554Asn' UniProt FTId: VAR_015423 O43520:p.Gly1040Arg mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain G R Wed May 02 14:24:23 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'gly1040arg' Tue Jun 30 19:10:34 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Gly1040Arg' UniProt FTId: VAR_043073 O43520:p.Asp454Ala mutation disrupting mutation disrupting interaction mutation disrupting certain certain sequence position certain certain certain sequence position certain D A Wed May 02 20:24:11 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'asp454ala' Tue Jun 30 15:59:41 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asp454Ala' O43520:p.Ile661Thr mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain I T Wed May 02 17:12:10 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'ile661thr' Tue Jun 30 16:12:44 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ile661Thr' dbSNP:rs28939686. UniProt FTId: VAR_008812 O43520:p.Asp70Asn mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain D N Wed May 02 18:44:23 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'asp70asn' Tue Jun 30 15:37:20 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asp70Asn' dbSNP:rs34719006. UniProt FTId: VAR_043045 O43520:p.Arg867Cys mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain R C Wed May 02 16:39:12 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg867cys' Tue Jun 30 17:35:54 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg867Cys' UniProt FTId: VAR_043072 2 unspecified role unspecified role bait bait nucl transfection nucleic acid transfection nucl transfection n-terminus ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range physical association physical association 3A and B