ID  Q969Z4;
PN  Tumor necrosis factor receptor superfamily member 19L;
GN  RELT;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Cell membrane {ECO:0000269|PubMed:16389068}; Single-pass type I membrane protein {ECO:0000269|PubMed:16389068}. Cytoplasm {ECO:0000269|PubMed:16389068}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:22052202}.
DR  UNIPROT: Q969Z4;
DR  UNIPROT: Q86V34;
DR  UNIPROT: Q96JU1;
DR  UNIPROT: Q9BUX7;
DR  Pfam: PF12606;
DR  OMIM: 611211;
DR  OMIM: 618386;
DR  DisGeNET: 84957;
DE  Function: May play a role in apoptosis (PubMed:28688764, PubMed:19969290). Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed (PubMed:16530727). Involved in dental enamel formation (PubMed:30506946). {ECO:0000269|PubMed:16530727, ECO:0000269|PubMed:19969290, ECO:0000269|PubMed:28688764, ECO:0000269|PubMed:30506946}.
DE  Disease: Amelogenesis imperfecta 3C (AI3C) [MIM:618386]: An autosomal recessive form of amelogenesis imperfecta, a defect of enamel formation. AI3C is characterized by generalized enamel hypocalcification affecting primary and secondary dentition. The surface of the enamel is rough and often stained. After eruption, the occlusal enamel on the molars disappears due to attrition, leaving a ring of intact enamel remaining on the sides. {ECO:0000269|PubMed:30506946}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: Q9H8J5; IntAct: EBI-21537025; Score: 0.35
DE  Interaction: P04201; IntAct: EBI-21538834; Score: 0.35
DE  Interaction: Q96GQ5; IntAct: EBI-21549001; Score: 0.35
DE  Interaction: Q8NHX9; IntAct: EBI-21578009; Score: 0.35
DE  Interaction: Q9UEW8; IntAct: EBI-21648169; Score: 0.35
DE  Interaction: Q6WKZ4; IntAct: EBI-21648169; Score: 0.35
DE  Interaction: O95747; IntAct: EBI-21648169; Score: 0.35
DE  Interaction: O00154; IntAct: EBI-21648169; Score: 0.35
DE  Interaction: P37173; IntAct: EBI-21668347; Score: 0.35
DE  Interaction: A8MVW5; IntAct: EBI-21700110; Score: 0.35
DE  Interaction: P24394; IntAct: EBI-21800565; Score: 0.35
DE  Interaction: Q8NC24; IntAct: EBI-21817939; Score: 0.35
DE  Interaction: Q8NFM7; IntAct: EBI-21858188; Score: 0.35
GO  GO:0016021;
GO  GO:0005654;
GO  GO:0048471;
GO  GO:0005886;
GO  GO:0097186;
GO  GO:0006915;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MKPSLLCRPLSCFLMLLPWPLATLTSTTLWQCPPGEEPDLDPGQGTLCRPCPPGTFSAAWGSSPCQPHARCSLWRRLEAQ
SQ  VGMATRDTLCGDCWPGWFGPWGVPRVPCQPCSWAPLGTHGCDEWGRRARRGVEVAAGASSGGETRQPGNGTRAGGPEETA
SQ  AQYAVIAIVPVFCLMGLLGILVCNLLKRKGYHCTAHKEVGPGPGGGGSGINPAYRTEDANEDTIGVLVRLITEKKENAAA
SQ  LEELLKEYHSKQLVQTSHRPVSKLPPAPPNVPHICPHRHHLHTVQGLASLSGPCCSRCSQKKWPEVLLSPEAVAATTPVP
SQ  SLLPNPTRVPKAGAKAGRQGEITILSVGRFRVARIPEQRTSSMVSEVKTITEAGPSWGDLPDSPQPGLPPEQQALLGSGG
SQ  SRTKWLKPPAENKAEENRYVVRLSESNLVI
//