ID Q9BTV4; PN Transmembrane protein 43; GN TMEM43; 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:32614325}. Nucleus inner membrane; Multi-pass membrane protein. Note=Retained in the inner nuclear membrane through interaction with EMD and A- and B-lamins. The N- and C-termini are oriented towards the nucleoplasm. The majority of the hydrophilic domain resides in the endoplasmic reticulum lumen (By similarity). {ECO:0000250}. DR UNIPROT: Q9BTV4; DR UNIPROT: Q7L4N5; DR UNIPROT: Q8NC30; DR UNIPROT: Q96A63; DR UNIPROT: Q96F19; DR UNIPROT: Q96JX0; DR UNIPROT: Q9H076; DR Pfam: PF07787; DR OMIM: 604400; DR OMIM: 612048; DR OMIM: 614302; DR DisGeNET: 79188; DE Function: May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). Plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26 (PubMed:32614325). In addition, functions as a critical signaling component in mediating NF-kappa-B activation by acting downstream of EGFR and upstream of CARD10 (PubMed:27991920). {ECO:0000250|UniProtKB:Q9DBS1, ECO:0000269|PubMed:27991920, ECO:0000269|PubMed:32614325}. DE Disease: Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5) [MIM:604400]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269|PubMed:18313022}. Note=The disease is caused by variants affecting the gene represented in this entry. Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269|PubMed:21391237}. Note=The disease is caused by variants affecting the gene represented in this entry. DE Reference Proteome: Yes; DE Interaction: P03246; IntAct: EBI-11722343; Score: 0.35 DE Interaction: P0C6X6; IntAct: EBI-25762549; Score: 0.35 DE Interaction: P0DTD1; IntAct: EBI-26495763; Score: 0.35 DE Interaction: P50402; IntAct: EBI-22085077; Score: 0.54 DE Interaction: Q3UBX0; IntAct: EBI-11055815; Score: 0.35 DE Interaction: Q5JX71; IntAct: EBI-24641558; Score: 0.56 DE Interaction: Q99IB8; IntAct: EBI-11599103; Score: 0.35 DE Interaction: P37268; IntAct: EBI-735100; Score: 0.00 DE Interaction: P13569; IntAct: EBI-1171566; Score: 0.35 DE Interaction: P04578; IntAct: EBI-6176374; Score: 0.35 DE Interaction: Q8IUQ4; IntAct: EBI-10298522; Score: 0.56 DE Interaction: P06460; IntAct: EBI-11723082; Score: 0.35 DE Interaction: P06792; IntAct: EBI-11724527; Score: 0.35 DE Interaction: P06927; IntAct: EBI-11724813; Score: 0.35 DE Interaction: P36895; IntAct: EBI-11008521; Score: 0.35 DE Interaction: P35278; IntAct: EBI-11012136; Score: 0.35 DE Interaction: Q8BFY9; IntAct: EBI-11018381; Score: 0.35 DE Interaction: P62491; IntAct: EBI-11046571; Score: 0.35 DE Interaction: P51149; IntAct: EBI-11050319; Score: 0.35 DE Interaction: Q8R5L1; IntAct: EBI-11085290; Score: 0.35 DE Interaction: F8VQC7; IntAct: EBI-11104527; Score: 0.35 DE Interaction: Q9R0Q3; IntAct: EBI-11111571; Score: 0.35 DE Interaction: Q9P0L0; IntAct: EBI-11120309; Score: 0.35 DE Interaction: Q8N4V1; IntAct: EBI-11130635; Score: 0.35 DE Interaction: Q9Y3E0; IntAct: EBI-11161387; Score: 0.35 DE Interaction: Q6NUS6; IntAct: EBI-11368748; Score: 0.27 DE Interaction: Q96GX1; IntAct: EBI-11375285; Score: 0.27 DE Interaction: Q96HH9; IntAct: EBI-16433789; Score: 0.72 DE Interaction: Q9H7V2; IntAct: EBI-24611312; Score: 0.56 DE Interaction: Q9UHP3; IntAct: EBI-24629728; Score: 0.56 DE Interaction: P11684; IntAct: EBI-24695423; Score: 0.56 DE Interaction: Q14318; IntAct: EBI-23735226; Score: 0.56 DE Interaction: Q3SXY8; IntAct: EBI-24736312; Score: 0.56 DE Interaction: Q8N5K1; IntAct: EBI-24737449; Score: 0.56 DE Interaction: P02671; IntAct: EBI-24748636; Score: 0.56 DE Interaction: Q9Y5K3; IntAct: EBI-24771131; Score: 0.56 DE Interaction: Q6Q788; IntAct: EBI-24797991; Score: 0.56 DE Interaction: Q6PEW1; IntAct: EBI-24809350; Score: 0.56 DE Interaction: Q6IQ23; IntAct: EBI-16398399; Score: 0.35 DE Interaction: Q9GZM5; IntAct: EBI-21509346; Score: 0.35 DE Interaction: Q16799; IntAct: EBI-21515832; Score: 0.35 DE Interaction: O75170; IntAct: EBI-21664775; Score: 0.35 DE Interaction: Q8TCT7; IntAct: EBI-21710636; Score: 0.35 DE Interaction: Q9Y6E2; IntAct: EBI-21714503; Score: 0.35 DE Interaction: Q9NQC3; IntAct: EBI-21723500; Score: 0.35 DE Interaction: Q7L1Q6; IntAct: EBI-21857187; Score: 0.35 DE Interaction: Q969Z0; IntAct: EBI-21877137; Score: 0.35 DE Interaction: Q13620; IntAct: EBI-21885185; Score: 0.40 DE Interaction: P02647; IntAct: EBI-21899345; Score: 0.40 DE Interaction: P05161; IntAct: EBI-16720078; Score: 0.35 DE Interaction: Q15077; IntAct: EBI-21262943; Score: 0.35 DE Interaction: Q9H1C4; IntAct: EBI-21266770; Score: 0.35 DE Interaction: P49768; IntAct: EBI-21132675; Score: 0.35 DE Interaction: P09613; IntAct: EBI-21497303; Score: 0.35 DE Interaction: Q9BTV4; IntAct: EBI-22084975; Score: 0.40 DE Interaction: Q9UH99; IntAct: EBI-22085077; Score: 0.43 DE Interaction: Q15139; IntAct: EBI-25395029; Score: 0.35 DE Interaction: P0DOF2; IntAct: EBI-25607852; Score: 0.35 DE Interaction: Q96CS3; IntAct: EBI-25770808; Score: 0.35 DE Interaction: Q8NBM4; IntAct: EBI-25771384; Score: 0.35 DE Interaction: P42858; IntAct: EBI-25961988; Score: 0.56 DE Interaction: K9N5R3; IntAct: EBI-26374533; Score: 0.35 DE Interaction: Q2TAZ0; IntAct: EBI-26443127; Score: 0.35 DE Interaction: Q13363; IntAct: EBI-27044482; Score: 0.35 GO GO:0005788; GO GO:0005789; GO GO:0005794; GO GO:0005639; GO GO:0042802; GO GO:0043621; GO GO:0045087; GO GO:0071763; TP Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255}; SQ MAANYSSTSTRREHVKVKTSSQPGFLERLSETSGGMFVGLMAFLLSFYLIFTNEGRALKTATSLAEGLSLVVSPDSIHSV SQ APENEGRLVHIIGALRTSKLLSDPNYGVHLPAVKLRRHVEMYQWVETEESREYTEDGQVKKETRYSYNTEWRSEIINSKN SQ FDREIGHKNPSAMAVESFMATAPFVQIGRFFLSSGLIDKVDNFKSLSLSKLEDPHVDIIRRGDFFYHSENPKYPEVGDLR SQ VSFSYAGLSGDDPDLGPAHVVTVIARQRGDQLVPFSTKSGDTLLLLHHGDFSAEEVFHRELRSNSMKTWGLRAAGWMAMF SQ MGLNLMTRILYTLVDWFPVFRDLVNIGLKAFAFCVATSLTLLTVAAGWLFYRPLWALLIAGLALVPILVARTRVPAKKLE //