MINT MINT, Dpt of Biology, University of Rome Tor Vergata MINT http://mint.bio.uniroma2.it/mint url&gt;http://mint.bio.uniroma2.it/mint/ https://mint.bio.uniroma2.it MINT-[0-9]+ https://mint.bio.uniroma2.it/index.php/results-interactions/?id=${ac} The Molecular INTeraction database (MINT) is a relational database designed to store interactions between biological molecules. http://mint.bio.uniroma2.it Neuronal copper homeostasis susceptibility by genetic defects in dysbindin, a schizophrenia susceptibility factor. Neuronal copper homeostasis susceptibility by genetic defects in dysbindin, a schizophrenia susceptibility factor. Human molecular genetics 2015 imex curation Gokhale A., Vrailas-Mortimer A., Larimore J., Comstra HS., Zlatic SA., Werner E., Manvich DF., Iuvone PM., Weinshenker D., Faundez V. Brain Disease - Neurological Diseases & Disorders vfaunde@emory.edu <vfaunde@emory.edu>; Only protein-protein interactions imex curation human-sh_sy5y Homo sapiens SH-SY5Y cell line sh_sy5y Human neuroblastoma cells crosslink cross-linking study crosslink western blot western blot Immuno blot Immuno blot Gokhale A., Vrailas-Mortimer A., Larimore J., Comstra HS., Zlatic SA., Werner E., Manvich DF., Iuvone PM., Weinshenker D., Faundez V. Brain Disease - Neurological Diseases & Disorders vfaunde@emory.edu <vfaunde@emory.edu>; Accepted 2021-SEP-08 AT 10:01 BST AT 10:01 BST by ORCHARD Human molecular genetics 2015 Only protein-protein interactions imex curation imex curation dopo_human Dopamine beta-hydroxylase DBH Dopamine beta-monooxygenase protein protein human Homo sapiens Human MPALSRWASLPGPSMREAAFMYSTAVAIFLVILVAALQGSAPRESPLPYHIPLDPEGSLELSWNVSYTQEAIHFQLLVRRLKAGVLFGMSDRGELENADLVVLWTDGDTAYFADAWSDQKGQIHLDPQQDYQLLQVQRTPEGLTLLFKRPFGTCDPKDYLIEDGTVHLVYGILEEPFRSLEAINGSGLQMGLQRVQLLKPNIPEPELPSDACTMEVQAPNIQIPSQETTYWCYIKELPKGFSRHHIIKYEPIVTKGNEALVHHMEVFQCAPEMDSVPHFSGPCDSKMKPDRLNYCRHVLAAWALGAKAFYYPEEAGLAFGGPGSSRYLRLEVHYHNPLVIEGRNDSSGIRLYYTAKLRRFNAGIMELGLVYTPVMAIPPRETAFILTGYCTDKCTQLALPPSGIHIFASQLHTHLTGRKVVTVLVRDGREWEIVNQDNHYSPHFQEIRMLKKVVSVHPGDVLITSCTYNTEDRELATVGGFGILEEMCVNYVHYYPQTQLELCKSAVDAGFLQKYFHLINRFNNEDVCTCPQASVSQQFTSVPWNSFNRDVLKALYSFAPISMHCNKSSAVRFQGEWNLQPLPKVISTLEEPTPQCPTSQGRSPAGPTVVSIGGGKG mint Conversion of dopamine to noradrenaline Defects in DBH are the cause of DBH deficiency [MIM:223360]; also called norepinephrine deficiency or noradrenaline deficiency. This disorder is characterized by profound deficits in autonomic and cardiovascular function, but apparently only subtle signs, if any, of central nervous system dysfunction 4D5586F0E358885D bl1s6_human Biogenesis of lysosome-related organelles complex 1 subunit 6 BLOC1S6 PA PLDN Pallid protein homolog Pallidin Syntaxin 13-interacting protein protein protein human Homo sapiens Human MSVPGPSSPDGALTRPPYCLEAGEPTPGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHYLPDLQRSKQALQELTQNQVVLLDTLEQEISKFKECHSMLDINALFAEAKHYHAKLVNIRKEMLMLHEKTSKLKKRALKLQQKRQKEELEREQQREKEFEREKQLTARPAKRM 37902FCFD4802294 dtbp1_mouse Dysbindin Dystrobrevin-binding protein 1 Hermansky-Pudlak syndrome 7 protein homolog Dysbindin-1 Dtnbp1 Sdy Biogenesis of lysosome-related organelles complex 1 subunit 8 Bloc1s8 protein protein mouse Mus musculus Mouse MLETLRERLLSVQQDFTSGLKTLSDKSREAKVKGKPRTAPRLPKYSAGLELLSRYEDAWAALHRRAKECADAGELVDSEVVMLSAHWEKKRTSLNELQGQLQQLPALLQDLESLMASLAHLETSFEEVENHLLHLEDLCGQCELERHKQAQAQHLESYKKSKRKELEAFKAELDTEHTQKALEMEHTQQLKLKERQKFFEEAFQQDMEQYLSTGYLQIAERREPMGSMSSMEVNVDVLEQMDLMDISDQEALDVFLNSGGEDNIVMSPGVEMESNPNQNEMSLQIPSPSESASQPPASPSACTDLDTADAPLIQSDEEEVQVDTALVTLHTDRKSTPGVSDDSDQCDSTQDI EE60FB10ECE95361 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 A54F17EA08FDACDB dtbp1_human Dysbindin My031 DTNBP1 Dystrobrevin-binding protein 1 Hermansky-Pudlak syndrome 7 protein Dysbindin-1 BLOC1S8 Biogenesis of lysosome-related organelles complex 1 subunit 8 protein protein human Homo sapiens Human MLETLRERLLSVQQDFTSGLKTLSDKSREAKVKSKPRTVPFLPKYSAGLELLSRYEDTWAALHRRAKDCASAGELVDSEVVMLSAHWEKKKTSLVELQEQLQQLPALIADLESMTANLTHLEASFEEVENNLLHLEDLCGQCELERCKHMQSQQLENYKKNKRKELETFKAELDAEHAQKVLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQVPNPSELRAKPPSSSSTCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREATPDGGEDSDS 0504C86E12B66C08 dtnbp1-1 1 2 unspecified role unspecified role prey prey physiological level physiological level endogenous level endogenous endogenous endogenous level 5 unspecified role unspecified role prey prey physiological level physiological level endogenous level endogenous endogenous endogenous level 3 unspecified role unspecified role prey prey physiological level physiological level endogenous level endogenous endogenous endogenous level 4 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed flag tag flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined association association fig. 2c SH-SY5Y cells were treated with the cell permeant cross-linker DSP atp7a-bloc1s6-1 1 2 unspecified role unspecified role prey prey physiological level physiological level endogenous level endogenous endogenous endogenous level 5 unspecified role unspecified role bait bait physiological level physiological level endogenous level endogenous endogenous endogenous level 3 unspecified role unspecified role prey prey physiological level physiological level endogenous level endogenous endogenous endogenous level 6 unspecified role unspecified role prey prey physiological level physiological level endogenous level endogenous endogenous endogenous level association association fig. 2b ATP7A peptide - range [42-61] atp7a-dbh-1 1 2 unspecified role unspecified role prey prey physiological level physiological level endogenous level endogenous endogenous endogenous level 5 unspecified role unspecified role bait bait physiological level physiological level endogenous level endogenous endogenous endogenous level physical association physical association fig. 2a