ID  O43426;
PN  Synaptojanin-1;
GN  SYNJ1;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:O18964}.
DR  UNIPROT: O43426;
DR  UNIPROT: O43425;
DR  UNIPROT: O94984;
DR  UNIPROT: Q4KMR1;
DR  PDB: 1W80;
DR  PDB: 2DNR;
DR  PDB: 2VJ0;
DR  PDB: 7A0V;
DR  Pfam: PF08952;
DR  Pfam: PF03372;
DR  Pfam: PF02383;
DR  PROSITE: PS50102;
DR  PROSITE: PS50275;
DR  OMIM: 604297;
DR  OMIM: 615530;
DR  OMIM: 617389;
DR  DisGeNET: 8867;
DE  Function: Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)- bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:27435091). Has a role in clathrin-mediated endocytosis (By similarity). Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 (By similarity). {ECO:0000250|UniProtKB:O18964, ECO:0000250|UniProtKB:Q62910, ECO:0000269|PubMed:27435091}.
DE  Disease: Parkinson disease 20, early-onset (PARK20) [MIM:615530]: An early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK20 is characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia. {ECO:0000269|PubMed:23804563, ECO:0000269|PubMed:23804577, ECO:0000269|PubMed:27496670}. Note=The disease is caused by variants affecting the gene represented in this entry. Developmental and epileptic encephalopathy 53 (DEE53) [MIM:617389]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE53 inheritance is autosomal recessive. {ECO:0000269|PubMed:27435091}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: P49418; IntAct: EBI-7121552; Score: 0.56
DE  Interaction: Q99961; IntAct: EBI-7122802; Score: 0.44
DE  Interaction: Q6ZQ03; IntAct: EBI-7818661; Score: 0.56
DE  Interaction: O94875; IntAct: EBI-7818742; Score: 0.56
DE  Interaction: P62994; IntAct: EBI-7818911; Score: 0.56
DE  Interaction: Q9Z0W5; IntAct: EBI-7818854; Score: 0.56
DE  Interaction: Q99962; IntAct: EBI-7819014; Score: 0.56
DE  Interaction: P18484; IntAct: EBI-8455489; Score: 0.40
DE  Interaction: P17427; IntAct: EBI-8455461; Score: 0.44
DE  Interaction: O95400; IntAct: EBI-7175844; Score: 0.44
DE  Interaction: Q9Y5X1; IntAct: EBI-7808413; Score: 0.66
DE  Interaction: P16333; IntAct: EBI-7808566; Score: 0.44
DE  Interaction: Q07912; IntAct: EBI-7809036; Score: 0.27
DE  Interaction: Q9CR95; IntAct: EBI-7593929; Score: 0.44
DE  Interaction: Q12965; IntAct: EBI-7237329; Score: 0.40
DE  Interaction: Q15811; IntAct: EBI-7965393; Score: 0.40
DE  Interaction: A0A6L7HDD5; IntAct: EBI-2821536; Score: 0.00
DE  Interaction: Q81X77; IntAct: EBI-2821551; Score: 0.00
DE  Interaction: P62993; IntAct: EBI-3964621; Score: 0.53
DE  Interaction: P56945; IntAct: EBI-15099384; Score: 0.35
DE  Interaction: Q6IQ23; IntAct: EBI-16398399; Score: 0.35
DE  Interaction: Q96CW1; IntAct: EBI-21520588; Score: 0.35
DE  Interaction: Q6NS38; IntAct: EBI-21543481; Score: 0.35
DE  Interaction: O43493; IntAct: EBI-16801466; Score: 0.27
DE  Interaction: P10636; IntAct: EBI-20749724; Score: 0.35
DE  Interaction: P04156; IntAct: EBI-21013988; Score: 0.35
DE  Interaction: F1PAA9; IntAct: EBI-27079701; Score: 0.27
DE  Interaction: O43364; IntAct: EBI-28997314; Score: 0.35
DE  Interaction: P11362; IntAct: EBI-32721578; Score: 0.27
GO  GO:0030132;
GO  GO:0005829;
GO  GO:0030117;
GO  GO:0005874;
GO  GO:0098688;
GO  GO:0048471;
GO  GO:0098793;
GO  GO:0097060;
GO  GO:0043195;
GO  GO:0012506;
GO  GO:1990175;
GO  GO:0052658;
GO  GO:0034596;
GO  GO:0034595;
GO  GO:0052629;
GO  GO:0043813;
GO  GO:0004438;
GO  GO:0004439;
GO  GO:0043812;
GO  GO:0008022;
GO  GO:0044877;
GO  GO:0003723;
GO  GO:0017124;
GO  GO:0007420;
GO  GO:0046855;
GO  GO:0043647;
GO  GO:0007612;
GO  GO:0061024;
GO  GO:0006836;
GO  GO:0006661;
GO  GO:0046856;
GO  GO:0046488;
GO  GO:1904980;
GO  GO:0014015;
GO  GO:0048260;
GO  GO:0034097;
GO  GO:0032526;
GO  GO:0048488;
GO  GO:0016082;
GO  GO:0048489;
GO  GO:0016191;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVL
SQ  VTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFW
SQ  NQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLD
SQ  DSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLK
SQ  ASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLE
SQ  MLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKAKLKDGARSVTRTIQNNFFDSSKQEAIDVLL
SQ  LGNTLNSDLADKARALLTTGSLRVSEQTLQSASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTD
SQ  WLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSASTTNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFV
SQ  FIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKERNEDFIEIARKLSFPMGRMLF
SQ  SHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVFRGFLEGKVTFAPTYKYDLFSDDYDTSEKCR
SQ  TPAWTDRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYTWTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQN
SQ  IYKEVIAVQGPPDGTVLVSIKSSLPENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELL
SQ  NRTITIALKSPDWIKNLEEEMSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGT
SQ  SPSSSPRTSPCQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRP
SQ  APPQRPPPPSGARSPAPTRKEFGGIGAPPSPGVARREMEAPKSPGTTRKDNIGRSQPSPQAGLAGPGPAGYSTARPTIPP
SQ  RAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNL
SQ  ETPPQPPPRSRSSHSLPSEASSQPQVKTNGISDGKRESPLKIDPFEDLSFNLLAVSKAQLSVQTSPVPTPDPKRLIQLPS
SQ  ATQSNVLSSVSCMPTMPPIPARSQSQENMRSSPNPFITGLTRTNPFSDRTAAPGNPFRAKSEESEATSWFSKEEPVTISP
SQ  FPSLQPLGHNKSRASSSLDGFKDSFDLQGQSTLKISNPKGWVTFEEEEDFGVKGKSKSACSDLLGNQPSSFSGSNLTLND
SQ  DWNKGTNVSFCVLPSRRPPPPPVPLLPPGTSPPVDPFTTLASKASPTLDFTER
//