matrixdb Institut de Biologie et de Chimie des Prot\u00c3\u00a9ines, 7, passage du Vercors 69 367 Lyon cedex 07 FRANCE matrixdb@ibcp.fr http://matrixdb.ibcp.fr Institut de Biologie et de Chimie des Prot\u00c3\u00a9ines, 7, passage du Vercors 69 367 Lyon cedex 07 FRANCE http://matrixdb.ibcp.fr blockhuys-2020-1 human-mda_mb_231 Homo sapiens Caucasian breast adenocarcinoma mda_mb_231 Human Caucasian breast adenocarcinoma pla proximity ligation assay pELISA pELISA PLA antibody detection identification by antibody antibody detection Blockhuys S., Zhang X., Wittung-Stafshede P. steblo@chalmers.se Proceedings of the National Academy of Sciences of the United States of America 2020 Only protein-protein interactions imex curation imex curation atp7a_human Copper-transporting ATPase 1 ATP7A MC1 MNK Copper pump 1 Menkes disease-associated protein protein protein human Homo sapiens Human MDPSMGVNSVTISVEGMTCNSCVWTIEQQIGKVNGVHHIKVSLEEKNATIIYDPKLQTPKTLQEAIDDMGFDAVIHNPDPLPVLTDTLFLTVTASLTLPWDHIQSTLLKTKGVTDIKIYPQKRTVAVTIIPSIVNANQIKELVPELSLDTGTLEKKSGACEDHSMAQAGEVVLKMKVEGMTCHSCTSTIEGKIGKLQGVQRIKVSLDNQEATIVYQPHLISVEEMKKQIEAMGFPAFVKKQPKYLKLGAIDVERLKNTPVKSSEGSQQRSPSYTNDSTATFIIDGMHCKSCVSNIESTLSALQYVSSIVVSLENRSAIVKYNASSVTPESLRKAIEAVSPGLYRVSITSEVESTSNSPSSSSLQKIPLNVVSQPLTQETVINIDGMTCNSCVQSIEGVISKKPGVKSIRVSLANSNGTVEYDPLLTSPETLRGAIEDMGFDATLSDTNEPLVVIAQPSSEMPLLTSTNEFYTKGMTPVQDKEEGKNSSKCYIQVTGMTCASCVANIERNLRREEGIYSILVALMAGKAEVRYNPAVIQPPMIAEFIRELGFGATVIENADEGDGVLELVVRGMTCASCVHKIESSLTKHRGILYCSVALATNKAHIKYDPEIIGPRDIIHTIESLGFEASLVKKDRSASHLDHKREIRQWRRSFLVSLFFCIPVMGLMIYMMVMDHHFATLHHNQNMSKEEMINLHSSMFLERQILPGLSVMNLLSFLLCVPVQFFGGWYFYIQAYKALKHKTANMDVLIVLATTIAFAYSLIILLVAMYERAKVNPITFFDTPPMLFVFIALGRWLEHIAKGKTSEALAKLISLQATEATIVTLDSDNILLSEEQVDVELVQRGDIIKVVPGGKFPVDGRVIEGHSMVDESLITGEAMPVAKKPGSTVIAGSINQNGSLLICATHVGADTTLSQIVKLVEEAQTSKAPIQQFADKLSGYFVPFIVFVSIATLLVWIVIGFLNFEIVETYFPGYNRSISRTETIIRFAFQASITVLCIACPCSLGLATPTAVMVGTGVGAQNGILIKGGEPLEMAHKVKVVVFDKTGTITHGTPVVNQVKVLTESNRISHHKILAIVGTAESNSEHPLGTAITKYCKQELDTETLGTCIDFQVVPGCGISCKVTNIEGLLHKNNWNIEDNNIKNASLVQIDASNEQSSTSSSMIIDAQISNALNAQQYKVLIGNREWMIRNGLVINNDVNDFMTEHERKGRTAVLVAVDDELCGLIAIADTVKPEAELAIHILKSMGLEVVLMTGDNSKTARSIASQVGITKVFAEVLPSHKVAKVKQLQEEGKRVAMVGDGINDSPALAMANVGIAIGTGTDVAIEAADVVLIRNDLLDVVASIDLSRKTVKRIRINFVFALIYNLVGIPIAAGVFMPIGLVLQPWMGSAAMAASSVSVVLSSLFLKLYRKPTYESYELPARSQIGQKSPSEISVHVGIDDTSRNSPKLGLLDRIVNYSRASINSLLSDKRSLNSVVTSEPDKHSLLVGDFREDDDTAL mint May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells Defects in ATP7A are the cause of Menkes syndrome (MD) [MIM:309400]; also known as kinky hair disease. MD is an X-linked recessive disease characterized by progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early retardation in growth, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. It is due to a defect in absorption and transport of copper Defects in ATP7A are the cause of occipital horn syndrome (OHS) [MIM:304150]; also known as X-linked cutis laxa. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities included occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga atox1_human Copper transport protein ATOX1 ATOX1 HAH1 Metal transport protein ATX1 protein protein human Homo sapiens Human MPKHEFSVDMTCGGCAEAVSRVLNKLGGVKYDIDLPNKKVCIESEHSMDTLLATLKKTGKTVSYLGLE lyox_human Protein-lysine 6-oxidase LOX Lysyl oxidase protein protein human Homo sapiens Human MRFAWTVLLLGPLQLCALVHCAPPAAGQQQPPREPPAAPGAWRQQIQWENNGQVFSLLSLGSQYQPQRRRDPGAAVPGAANASAQQPRTPILLIRDNRTAAARTRTAGSSGVTAGRPRPTARHWFQAGYSTSRAREAGASRAENQTAPGEVPALSNLRPPSRVDGMVGDDPYNPYKYSDDNPYYNYYDTYERPRPGGRYRPGYGTGYFQYGLPDLVADPYYIQASTYVQKMSMYNLRCAAEENCLASTAYRADVRDYDHRVLLRFPQRVKNQGTSDFLPSRPRYSWEWHSCHQHYHSMDEFSHYDLLDANTQRRVAEGHKASFCLEDTSCDYGYHRRFACTAHTQGLSPGCYDTYGADIDCQWIDITDVKPGNYILKVSVNPSYLVPESDYTNNVVRCDIRYTGHHAYASGCTISPY atox1-atp7a-1 3657856 N/A 3657857 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level human-mda_mb_231 Homo sapiens Caucasian breast adenocarcinoma mda_mb_231 Human Caucasian breast adenocarcinoma N/A 3657858 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level human-mda_mb_231 Homo sapiens Caucasian breast adenocarcinoma mda_mb_231 Human Caucasian breast adenocarcinoma proximity proximity close-contact colocalization neighbourhood interaction false false false Fig. 3A atp7a-lox-1 3657856 N/A 3657857 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level human-mda_mb_231 Homo sapiens Caucasian breast adenocarcinoma mda_mb_231 Human Caucasian breast adenocarcinoma N/A 3657859 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level human-mda_mb_231 Homo sapiens Caucasian breast adenocarcinoma mda_mb_231 Human Caucasian breast adenocarcinoma proximity proximity close-contact colocalization neighbourhood interaction false false false Figure 3A and 3B atox1-lox-1 3657856 N/A 3657858 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level human-mda_mb_231 Homo sapiens Caucasian breast adenocarcinoma mda_mb_231 Human Caucasian breast adenocarcinoma N/A 3657859 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level human-mda_mb_231 Homo sapiens Caucasian breast adenocarcinoma mda_mb_231 Human Caucasian breast adenocarcinoma proximity proximity close-contact colocalization neighbourhood interaction false false false Figure 3A and 3B The presence of Atox1 appears necessary for ATP7A-LOXPP (prolysyloxidase) proximity