UniProt UniProt http://www.uniprot.org A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am. J. Hum. Genet. (0002-9297) 2008 imex curation Bassuk A.G., Wallace R.H., Buhr A., Buller A.R., Afawi Z., Shimojo M., Miyata S., Chen S., Gonzalez-Alegre P., Griesbach H.L., Wu S., Nashelsky M., Vladar E.K., Antic D., Ferguson P.J., Cirak S., Voit T., Scott M.P., Axelrod J.D., Gurnett C., Daoud A.S., Kivity S., Neufeld M.Y., Mazarib A., Straussberg R., Walid S., Korczyn A.D., Slusarski D.C., Berkovic S.F., El-Shanti H.I. Origin of transfected REST according reference 12, pubmed 14645515 s.berkovic@unimelb.edu.au Only protein-protein interactions human-hela Homo sapiens epitheloid cervix carcinoma cells Human hela Human epitheloid cervix carcinoma HeLa cells derivation: cervix; epithelial; adenocarcinoma ATCC no:CCL-2 anti tag coip anti tag coimmunoprecipitation anti tag coip anti tag western anti tag western blot anti tag western Bassuk A.G., Wallace R.H., Buhr A., Buller A.R., Afawi Z., Shimojo M., Miyata S., Chen S., Gonzalez-Alegre P., Griesbach H.L., Wu S., Nashelsky M., Vladar E.K., Antic D., Ferguson P.J., Cirak S., Voit T., Scott M.P., Axelrod J.D., Gurnett C., Daoud A.S., Kivity S., Neufeld M.Y., Mazarib A., Straussberg R., Walid S., Korczyn A.D., Slusarski D.C., Berkovic S.F., El-Shanti H.I. Origin of transfected REST according reference 12, pubmed 14645515 s.berkovic@unimelb.edu.au sberkovic@unimelb.edu.au Accepted 2015-MAR-02 by MGT Am. J. Hum. Genet. (0002-9297) 2008 imex curation pric1_human Prickle-like protein 1 PRICKLE1 RILP REST/NRSF-interacting LIM domain protein 1 protein protein human Homo sapiens Human MPLEMEPKMSKLAFGCQRSSTSDDDSGCALEEYAWVPPGLRPEQIQLYFACLPEEKVPYVNSPGEKHRIKQLLYQLPPHDNEVRYCQSLSEEEKKELQVFSAQRKKEALGRGTIKLLSRAVMHAVCEQCGLKINGGEVAVFASRAGPGVCWHPSCFVCFTCNELLVDLIYFYQDGKIHCGRHHAELLKPRCSACDEIIFADECTEAEGRHWHMKHFCCLECETVLGGQRYIMKDGRPFCCGCFESLYAEYCETCGEHIGVDHAQMTYDGQHWHATEACFSCAQCKASLLGCPFLPKQGQIYCSKTCSLGEDVHASDSSDSAFQSARSRDSRRSVRMGKSSRSADQCRQSLLLSPALNYKFPGLSGNADDTLSRKLDDLSLSRQGTSFASEEFWKGRVEQETPEDPEEWADHEDYMTQLLLKFGDKSLFQPQPNEMDIRASEHWISDNMVKSKTELKQNNQSLASKKYQSDMYWAQSQDGLGDSAYGSHPGPASSRRLQELELDHGASGYNHDETQWYEDSLECLSDLKPEQSVRDSMDSLALSNITGASVDGENKPRPSLYSLQNFEEMETEDCEKMSNMGTLNSSMLHRSAESLKSLSSELCPEKILPEEKPVHLPVLRRSKSQSRPQQVKFSDDVIDNGNYDIEIRQPPMSERTRRRVYNFEERGSRSHHHRRRRSRKSRSDNALNLVTERKYSPKDRLRLYTPDNYEKFIQNKSAREIQAYIQNADLYGQYAHATSDYGLQNPGMNRFLGLYGEDDDSWCSSSSSSSDSEEEGYFLGQPIPQPRPQRFAYYTDDLSSPPSALPTPQFGQRTTKSKKKKGHKGKNCIIS 753D68BD5A4D0935 rest_mouse RE1-silencing transcription factor Rest Nrsf Neural-restrictive silencer factor protein protein mouse Mus musculus Mouse MATQVMGQSSGGGSLFNNSANMGMALTNDMYDLHELSKAELAAPQLIMLANVALTGEASGSCCDYLVGEERQMAELMPVGDNHFSESEGEGLEESADLKGLENMELGSLELSAVEPQPVFEASAAPEIYSANKDPAPETPVAEDKCRSSKAKPFRCKPCQYEAESEEQFVHHIRIHSAKKFFVEESAEKQAKAWESGSSPAEEGEFSKGPIRCDRCGYNTNRYDHYMAHLKHHLRAGENERIYKCIICTYTTVSEYHWRKHLRNHFPRKVYTCSKCNYFSDRKNNYVQHVRTHTGERPYKCELCPYSSSQKTHLTRHMRTHSGEKPFKCDQCNYVASNQHEVTRHARQVHNGPKPLNCPHCDYKTADRSNFKKHVELHVNPRQFNCPVCDYAASKKCNLQYHFKSKHPTCPSKTMDVSKVKLKKTKKREADLLNNAVSNEKMENEQTKTKGDVSGKKNEKPVKAVGKDASKEKKPGSSVSVVQVTTRTRKSAVAAETKAAEVKHTDGQTGNNPEKPCKAKKNKRKKDAEAHPSEEPVNEGPVTKKKKKSECKSKIGTNVPKGGGRAEERPGVKKQSASLKKGTKKTPPKTKTSKKGGKLAPKGMGQTEPSSGALAQVGVSPDPALIQAEVTGSGSSQTELPSPMDIAKSEPAQMEVSLTGPPPVEPAQMEPSPAKPPQVEAPTYPQPPQRGPAPPTGPAPPTGPAPPTEPAPPTGLAEMEPSPTEPSQKEPPPSMEPPCPEELPQAEPPPMEDCQKELPSPVEPAQIEVAQTAPTQVQEEPPPVSEPPRVKPTKRSSLRKDRAEKELSLLSEMARQEQVLMGVGLVPVRDSKLLKGNKSAQDPPAPPSPSPKGNSREETPKDQEMVSDGEGTIVFPLKKGGPEEAGESPAELAALKESARVSSSEQNSAMPEGGASHSKCQTGSSGLCDVDTEQKTDTVPMKDSAAEPVSPPTPTVDRDAGSPAVVASPPITLAENESQEIDEDEGIHSHDGSDLSDNMSEGSDDSGLHGARPTPPEATSKNGKAGLAGKVTEGEFVCIFCDRSFRKEKDYSKHLNRHLVNVYFLEEAAEEQEEQEEREEQE 0D3616BC0820BC2F prickle1-rest-1 1 3 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection n-terminus myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range 2 unspecified role unspecified role bait bait nucl transfection nucleic acid transfection nucl transfection Q96MT3:p.Arg104Gln mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain R Q Disease variant in Epilepsy, progressive myoclonic 1B (EPM1B, [MIM:612437); UniProt FTId: VAR_054663 Wed May 02 17:27:30 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg104gln' Tue Jun 30 15:36:17 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg104Gln' c-terminus gfp tag green fluorescent protein tag GFP green fluorescent protein GFP green fluorescent protein gfp tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range physical association physical association 4A rest-prickle1 1 3 unspecified role unspecified role bait bait nucl transfection nucleic acid transfection nucl transfection n-terminus myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range true 2 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection c-terminus gfp tag green fluorescent protein tag GFP green fluorescent protein GFP green fluorescent protein gfp tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range true Q96MT3:p.Arg104Gln mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain true R Q Disease variant in Epilepsy, progressive myoclonic 1B (EPM1B, [MIM:612437); UniProt FTId: VAR_054663 Wed May 02 16:04:46 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg104gln' Tue Jun 30 18:22:13 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg104Gln' physical association physical association 4B