ID  O43567;
PN  E3 ubiquitin-protein ligase RNF13;
GN  RNF13;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0179;
SL  Nucleus Position: SL-0182;
SL  Comments: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18794910, ECO:0000269|PubMed:23378536, ECO:0000269|PubMed:24387786}; Single-pass type I membrane protein {ECO:0000255}. Late endosome membrane {ECO:0000305|PubMed:24387786}; Single-pass type I membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:17897319}; Single-pass type I membrane protein {ECO:0000255}. Nucleus inner membrane {ECO:0000250|UniProtKB:O54965}; Single-pass type I membrane protein {ECO:0000255}. Note=Under certain conditions, relocalizes to recycling endosomes and to the inner nuclear membrane. {ECO:0000250|UniProtKB:O54965}.
DR  UNIPROT: O43567;
DR  UNIPROT: A6NC87;
DR  UNIPROT: B3KR12;
DR  UNIPROT: Q05D66;
DR  UNIPROT: Q6IBJ9;
DR  PDB: 5ZBU;
DR  PDB: 5ZC4;
DR  Pfam: PF02225;
DR  Pfam: PF13639;
DR  PROSITE: PS50089;
DR  OMIM: 609247;
DR  OMIM: 618379;
DR  DisGeNET: 11342;
DE  Function: E3 ubiquitin-protein ligase that regulates cell proliferation (PubMed:18794910, PubMed:23378536, PubMed:30595371). Involved in apoptosis regulation (PubMed:23378536, PubMed:30595371). Mediates ER stress-induced activation of JNK signaling pathway and apoptosis by promoting ERN1 activation and splicing of XBP1 mRNA (PubMed:23378536, PubMed:30595371). Also involved in protein trafficking and localization (PubMed:24387786). {ECO:0000269|PubMed:18794910, ECO:0000269|PubMed:23378536, ECO:0000269|PubMed:24387786, ECO:0000269|PubMed:30595371}.
DE  Disease: Developmental and epileptic encephalopathy 73 (DEE73) [MIM:618379]: 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. DEE73 is an autosomal dominant form with onset at birth. {ECO:0000269|PubMed:30595371}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: P51668; IntAct: EBI-2129187; Score: 0.37
DE  Interaction: P62837; IntAct: EBI-2129341; Score: 0.37
DE  Interaction: P61077; IntAct: EBI-2129485; Score: 0.37
DE  Interaction: Q9Y2X8; IntAct: EBI-2129621; Score: 0.37
DE  Interaction: P51965; IntAct: EBI-2129713; Score: 0.37
DE  Interaction: Q969T4; IntAct: EBI-2129801; Score: 0.37
DE  Interaction: P61088; IntAct: EBI-2130077; Score: 0.59
DE  Interaction: Q13404; IntAct: EBI-9970220; Score: 0.00
DE  Interaction: P22314; IntAct: EBI-9970220; Score: 0.00
DE  Interaction: P42229; IntAct: EBI-11034384; Score: 0.35
DE  Interaction: P48681; IntAct: EBI-11119785; Score: 0.35
DE  Interaction: O00214; IntAct: EBI-21518344; Score: 0.35
DE  Interaction: Q86Y82; IntAct: EBI-21524609; Score: 0.35
DE  Interaction: Q9UEU0; IntAct: EBI-21525256; Score: 0.35
DE  Interaction: Q9Y240; IntAct: EBI-21531678; Score: 0.35
DE  Interaction: Q9H8J5; IntAct: EBI-21537025; Score: 0.35
DE  Interaction: O43291; IntAct: EBI-21587968; Score: 0.35
DE  Interaction: O00182; IntAct: EBI-21597945; Score: 0.35
DE  Interaction: P32241; IntAct: EBI-21613594; Score: 0.35
DE  Interaction: Q9Y3E1; IntAct: EBI-21693236; Score: 0.35
DE  Interaction: Q9H6Y7; IntAct: EBI-21693236; Score: 0.35
DE  Interaction: Q92572; IntAct: EBI-21693236; Score: 0.35
DE  Interaction: P59780; IntAct: EBI-21693236; Score: 0.35
DE  Interaction: P56377; IntAct: EBI-21693236; Score: 0.35
DE  Interaction: P51798; IntAct: EBI-21693236; Score: 0.35
DE  Interaction: P29597; IntAct: EBI-21693236; Score: 0.35
DE  Interaction: P24468; IntAct: EBI-21693236; Score: 0.35
DE  Interaction: O60637; IntAct: EBI-21693236; Score: 0.35
DE  Interaction: O43602; IntAct: EBI-21693236; Score: 0.35
DE  Interaction: O14617; IntAct: EBI-21693236; Score: 0.35
GO  GO:0005829;
GO  GO:0005783;
GO  GO:0005789;
GO  GO:0005768;
GO  GO:0000139;
GO  GO:0016021;
GO  GO:0043231;
GO  GO:0031902;
GO  GO:0005765;
GO  GO:0005637;
GO  GO:0005654;
GO  GO:0008432;
GO  GO:0046872;
GO  GO:0061630;
GO  GO:0004842;
GO  GO:0051640;
GO  GO:0070304;
GO  GO:0051865;
GO  GO:0006511;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKGFLINSKPENACEPI
SQ  VPPPVKDNSSGTFIVLIRRLDCNFDIKVLNAQRAGYKAAIVHNVDSDDLISMGSNDIEVLKKIDIPSVFIGESSANSLKD
SQ  EFTYEKGGHLILVPEFSLPLEYYLIPFLIIVGICLILIVIFMITKFVQDRHRARRNRLRKDQLKKLPVHKFKKGDEYDVC
SQ  AICLDEYEDGDKLRILPCSHAYHCKCVDPWLTKTKKTCPVCKQKVVPSQGDSDSDTDSSQEENEVTEHTPLLRPLASVSA
SQ  QSFGALSESRSHQNMTESSDYEEDDNEDTDSSDAENEINEHDVVVQLQPNGERDYNIANTV
//