ID  Q13393;
PN  Phospholipase D1;
GN  PLD1;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q9Z280}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9Z280}; Lipid-anchor {ECO:0000250|UniProtKB:Q9Z280}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9Z280}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9Z280}; Lipid-anchor {ECO:0000250|UniProtKB:Q9Z280}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9Z280}. Late endosome membrane {ECO:0000250|UniProtKB:Q9Z280}; Lipid-anchor {ECO:0000250|UniProtKB:Q9Z280}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9Z280}.
DR  UNIPROT: Q13393;
DR  PDB: 6U8Z;
DR  Pfam: PF00169;
DR  Pfam: PF00614;
DR  Pfam: PF13091;
DR  Pfam: PF00787;
DR  PROSITE: PS50035;
DR  PROSITE: PS50195;
DR  OMIM: 212093;
DR  OMIM: 602382;
DR  DisGeNET: 5337;
DE  Function: Function as phospholipase selective for phosphatidylcholine (PubMed:8530346, PubMed:9582313). Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity). {ECO:0000250|UniProtKB:Q9Z280, ECO:0000269|PubMed:8530346, ECO:0000269|PubMed:9582313}.
DE  Disease: Cardiac valvular defect, developmental (CVDD) [MIM:212093]: An autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves. {ECO:0000269|PubMed:27799408}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: Q08AE8; IntAct: EBI-25882505; Score: 0.56
DE  Interaction: Q6P5Z2; IntAct: EBI-7796971; Score: 0.54
DE  Interaction: P23528; IntAct: EBI-7602859; Score: 0.57
DE  Interaction: P61764; IntAct: EBI-6941067; Score: 0.36
DE  Interaction: P19174; IntAct: EBI-6941115; Score: 0.36
DE  Interaction: Q81WH6; IntAct: EBI-2827553; Score: 0.00
DE  Interaction: O75787; IntAct: EBI-11037152; Score: 0.35
DE  Interaction: Q66GS9; IntAct: EBI-11052108; Score: 0.35
DE  Interaction: Q9WUM4; IntAct: EBI-11065690; Score: 0.35
DE  Interaction: Q9NXR8; IntAct: EBI-11069098; Score: 0.35
DE  Interaction: Q61699; IntAct: EBI-11091301; Score: 0.35
DE  Interaction: Q91YS4; IntAct: EBI-11094920; Score: 0.35
DE  Interaction: Q9R0Q3; IntAct: EBI-11111571; Score: 0.35
DE  Interaction: Q9Y253; IntAct: EBI-11141689; Score: 0.35
DE  Interaction: C5E527; IntAct: EBI-12585653; Score: 0.35
DE  Interaction: Q9P296; IntAct: EBI-21519943; Score: 0.35
DE  Interaction: Q9UF02; IntAct: EBI-21554221; Score: 0.35
DE  Interaction: Q8N5Z5; IntAct: EBI-21592259; Score: 0.35
DE  Interaction: Q8NFN8; IntAct: EBI-21600104; Score: 0.35
DE  Interaction: Q8N344; IntAct: EBI-21628820; Score: 0.35
DE  Interaction: P33151; IntAct: EBI-21650356; Score: 0.35
DE  Interaction: Q9HBV2; IntAct: EBI-21670400; Score: 0.35
DE  Interaction: Q9NS68; IntAct: EBI-21682735; Score: 0.35
DE  Interaction: Q9Y6I9; IntAct: EBI-21737815; Score: 0.35
DE  Interaction: Q6ZWK4; IntAct: EBI-21782601; Score: 0.35
DE  Interaction: Q99767; IntAct: EBI-21817505; Score: 0.35
DE  Interaction: O95218; IntAct: EBI-21822006; Score: 0.35
DE  Interaction: Q9H0X9; IntAct: EBI-21874768; Score: 0.35
DE  Interaction: Q9C0C9; IntAct: EBI-21880940; Score: 0.35
DE  Interaction: P49769; IntAct: EBI-15566405; Score: 0.40
DE  Interaction: Q15382; IntAct: EBI-15709078; Score: 0.40
DE  Interaction: P51812; IntAct: EBI-15709130; Score: 0.40
DE  Interaction: D3Z8E0; IntAct: EBI-15709151; Score: 0.40
DE  Interaction: P60903; IntAct: EBI-20903520; Score: 0.40
DE  Interaction: Q8WWI1; IntAct: EBI-20930688; Score: 0.40
DE  Interaction: P60033; IntAct: EBI-25645944; Score: 0.35
DE  Interaction: Q6NXG1; IntAct: EBI-25882497; Score: 0.56
DE  Interaction: Q12888; IntAct: EBI-25882489; Score: 0.56
DE  Interaction: P15923; IntAct: EBI-25882481; Score: 0.56
DE  Interaction: O15287; IntAct: EBI-25882473; Score: 0.56
DE  Interaction: Q6ZQX7; IntAct: EBI-25882541; Score: 0.56
DE  Interaction: Q0VD86; IntAct: EBI-25882533; Score: 0.56
DE  Interaction: Q6XD76; IntAct: EBI-25882525; Score: 0.56
DE  Interaction: Q9H7C4; IntAct: EBI-25882515; Score: 0.56
DE  Interaction: P05067; IntAct: EBI-25938382; Score: 0.56
DE  Interaction: A0A0F6B1Q8; IntAct: EBI-27036840; Score: 0.35
DE  Interaction: P63252; IntAct: EBI-28956128; Score: 0.27
DE  Interaction: Q16832; IntAct: EBI-32717626; Score: 0.35
GO  GO:0016324;
GO  GO:0098981;
GO  GO:0030139;
GO  GO:0005789;
GO  GO:0005768;
GO  GO:0005794;
GO  GO:0000139;
GO  GO:0043231;
GO  GO:0031902;
GO  GO:0005765;
GO  GO:0016020;
GO  GO:0048471;
GO  GO:0005886;
GO  GO:0035579;
GO  GO:0070821;
GO  GO:0070290;
GO  GO:0035091;
GO  GO:0004630;
GO  GO:0006935;
GO  GO:0048017;
GO  GO:0006654;
GO  GO:0009395;
GO  GO:0045727;
GO  GO:0007265;
GO  GO:0032534;
GO  GO:0098693;
GO  GO:0060627;
GO  GO:0007264;
TP  Membrane Topology: Lipid-Anchored; Source: UniProt - By Similarity {ECO:0000250};
SQ  MSLKNEPRVNTSALQKIAADMSNIIENLDTRELHFEGEEVDYDVSPSDPKIQEVYIPFSAIYNTQGFKEPNIQTYLSGCP
SQ  IKAQVLEVERFTSTTRVPSINLYTIELTHGEFKWQVKRKFKHFQEFHRELLKYKAFIRIPIPTRRHTFRRQNVREEPREM
SQ  PSLPRSSENMIREEQFLGRRKQLEDYLTKILKMPMYRNYHATTEFLDISQLSFIHDLGPKGIEGMIMKRSGGHRIPGLNC
SQ  CGQGRACYRWSKRWLIVKDSFLLYMKPDSGAIAFVLLVDKEFKIKVGKKETETKYGIRIDNLSRTLILKCNSYRHARWWG
SQ  GAIEEFIQKHGTNFLKDHRFGSYAAIQENALAKWYVNAKGYFEDVANAMEEANEEIFITDWWLSPEIFLKRPVVEGNRWR
SQ  LDCILKRKAQQGVRIFIMLYKEVELALGINSEYTKRTLMRLHPNIKVMRHPDHVSSTVYLWAHHEKLVIIDQSVAFVGGI
SQ  DLAYGRWDDNEHRLTDVGSVKRVTSGPSLGSLPPAAMESMESLRLKDKNEPVQNLPIQKSIDDVDSKLKGIGKPRKFSKF
SQ  SLYKQLHRHHLHDADSISSIDSTSSYFNHYRSHHNLIHGLKPHFKLFHPSSESEQGLTRPHADTGSIRSLQTGVGELHGE
SQ  TRFWHGKDYCNFVFKDWVQLDKPFADFIDRYSTPRMPWHDIASAVHGKAARDVARHFIQRWNFTKIMKSKYRSLSYPFLL
SQ  PKSQTTAHELRYQVPGSVHANVQLLRSAADWSAGIKYHEESIHAAYVHVIENSRHYIYIENQFFISCADDKVVFNKIGDA
SQ  IAQRILKAHRENQKYRVYVVIPLLPGFEGDISTGGGNALQAIMHFNYRTMCRGENSILGQLKAELGNQWINYISFCGLRT
SQ  HAELEGNLVTELIYVHSKLLIADDNTVIIGSANINDRSMLGKRDSEMAVIVQDTETVPSVMDGKEYQAGRFARGLRLQCF
SQ  RVVLGYLDDPSEDIQDPVSDKFFKEVWVSTAARNATIYDKVFRCLPNDEVHNLIQLRDFINKPVLAKEDPIRAEEELKKI
SQ  RGFLVQFPFYFLSEESLLPSVGTKEAIVPMEVWT
//