ID  Q9Y2U8;
PN  Inner nuclear membrane protein Man1;
GN  LEMD3;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0179;
SL  Nucleus Position: SL-0182;
SL  Comments: Nucleus inner membrane {ECO:0000269|PubMed:15647271}; Multi-pass membrane protein {ECO:0000269|PubMed:15647271}.
DR  UNIPROT: Q9Y2U8;
DR  UNIPROT: Q9NT47;
DR  UNIPROT: Q9NYA5;
DR  PDB: 2CH0;
DR  PDB: 5ZOJ;
DR  PDB: 5ZOK;
DR  Pfam: PF03020;
DR  Pfam: PF09402;
DR  PROSITE: PS50954;
DR  OMIM: 166700;
DR  OMIM: 607844;
DR  DisGeNET: 23592;
DE  Function: Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest. {ECO:0000269|PubMed:15601644, ECO:0000269|PubMed:15647271}.
DE  Disease: Buschke-Ollendorff syndrome (BOS) [MIM:166700]: A disease characterized by osteopoikilosis and disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both. {ECO:0000269|PubMed:15489854, ECO:0000269|PubMed:19438932}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: O95476; IntAct: EBI-27115722; Score: 0.27
DE  Interaction: P01112; IntAct: EBI-27045317; Score: 0.27
DE  Interaction: P02545; IntAct: EBI-16795756; Score: 0.42
DE  Interaction: Q8N205; IntAct: EBI-21669865; Score: 0.35
DE  Interaction: Q15797; IntAct: EBI-7252846; Score: 0.67
DE  Interaction: O15198; IntAct: EBI-24403985; Score: 0.67
DE  Interaction: Q8BUN5; IntAct: EBI-2561434; Score: 0.56
DE  Interaction: Q15796; IntAct: EBI-2695978; Score: 0.40
DE  Interaction: P84022; IntAct: EBI-2696171; Score: 0.56
DE  Interaction: Q9RMZ3; IntAct: EBI-2830066; Score: 0.00
DE  Interaction: Q81LK0; IntAct: EBI-2830059; Score: 0.00
DE  Interaction: P57078; IntAct: EBI-12503575; Score: 0.35
DE  Interaction: Q9ULZ3; IntAct: EBI-10687267; Score: 0.35
DE  Interaction: P03182; IntAct: EBI-11721938; Score: 0.35
DE  Interaction: Q6NUS6; IntAct: EBI-11368748; Score: 0.27
DE  Interaction: Q86X19; IntAct: EBI-11372615; Score: 0.27
DE  Interaction: Q96GX1; IntAct: EBI-11375285; Score: 0.27
DE  Interaction: Q9BPU9; IntAct: EBI-11377507; Score: 0.27
DE  Interaction: Q9P0N5; IntAct: EBI-11378021; Score: 0.27
DE  Interaction: Q9H6H4; IntAct: EBI-24679596; Score: 0.56
DE  Interaction: Q9UI14; IntAct: EBI-24413053; Score: 0.56
DE  Interaction: P08473; IntAct: EBI-21505285; Score: 0.35
DE  Interaction: Q8WXA8; IntAct: EBI-21508371; Score: 0.35
DE  Interaction: Q92633; IntAct: EBI-21508694; Score: 0.35
DE  Interaction: Q9H8X2; IntAct: EBI-21509881; Score: 0.35
DE  Interaction: P16070; IntAct: EBI-21554944; Score: 0.35
DE  Interaction: Q9UN71; IntAct: EBI-21584146; Score: 0.35
DE  Interaction: Q9Y5G3; IntAct: EBI-21584582; Score: 0.35
DE  Interaction: O43291; IntAct: EBI-21587968; Score: 0.35
DE  Interaction: Q8WWF5; IntAct: EBI-21589535; Score: 0.35
DE  Interaction: Q02297; IntAct: EBI-21594648; Score: 0.35
DE  Interaction: Q8N6K0; IntAct: EBI-21599984; Score: 0.35
DE  Interaction: A2RU67; IntAct: EBI-21694732; Score: 0.35
DE  Interaction: Q8IV01; IntAct: EBI-21748151; Score: 0.35
DE  Interaction: Q96G27; IntAct: EBI-21751108; Score: 0.35
DE  Interaction: P11279; IntAct: EBI-21765755; Score: 0.48
DE  Interaction: Q9UKU6; IntAct: EBI-21773744; Score: 0.35
DE  Interaction: Q14392; IntAct: EBI-21780945; Score: 0.35
DE  Interaction: Q9HBB8; IntAct: EBI-21838749; Score: 0.35
DE  Interaction: Q16586; IntAct: EBI-21845627; Score: 0.35
DE  Interaction: O75106; IntAct: EBI-21896419; Score: 0.35
DE  Interaction: O15155; IntAct: EBI-16788067; Score: 0.27
DE  Interaction: P27824; IntAct: EBI-16788621; Score: 0.42
DE  Interaction: P68431; IntAct: EBI-16793336; Score: 0.27
DE  Interaction: Q9HBL7; IntAct: EBI-16797780; Score: 0.27
DE  Interaction: P20339; IntAct: EBI-16798221; Score: 0.27
DE  Interaction: O43493; IntAct: EBI-16800265; Score: 0.27
DE  Interaction: P62807; IntAct: EBI-25471348; Score: 0.27
DE  Interaction: P03372; IntAct: EBI-21301141; Score: 0.35
DE  Interaction: P05771; IntAct: EBI-25390687; Score: 0.35
DE  Interaction: P0DJI4; IntAct: EBI-22303808; Score: 0.35
DE  Interaction: Q9BXT4; IntAct: EBI-25485776; Score: 0.40
DE  Interaction: P0DTD8; IntAct: EBI-25687199; Score: 0.35
DE  Interaction: Q7TFA1; IntAct: EBI-25688644; Score: 0.35
DE  Interaction: Q2TAZ0; IntAct: EBI-26443127; Score: 0.35
DE  Interaction: P01116; IntAct: EBI-27041844; Score: 0.27
DE  Interaction: P01111; IntAct: EBI-27042293; Score: 0.27
DE  Interaction: A0A0H3NFP4; IntAct: EBI-27055788; Score: 0.27
DE  Interaction: A0A0H3NF08; IntAct: EBI-27055973; Score: 0.27
DE  Interaction: A0A0H3NB75; IntAct: EBI-27055983; Score: 0.27
DE  Interaction: Q8N488; IntAct: EBI-27110926; Score: 0.35
DE  Interaction: Q9UM73; IntAct: EBI-32719830; Score: 0.27
DE  Interaction: P29322; IntAct: EBI-32721175; Score: 0.27
DE  Interaction: P11362; IntAct: EBI-32721578; Score: 0.27
DE  Interaction: P06213; IntAct: EBI-32723092; Score: 0.27
DE  Interaction: P07949; IntAct: EBI-32725031; Score: 0.27
DE  Interaction: Q01974; IntAct: EBI-32725367; Score: 0.27
DE  Interaction: Q6J9G0; IntAct: EBI-32731895; Score: 0.27
GO  GO:0016021;
GO  GO:0005639;
GO  GO:0016020;
GO  GO:0005637;
GO  GO:0031965;
GO  GO:0031490;
GO  GO:0032926;
GO  GO:0030514;
GO  GO:0030512;
GO  GO:0006998;
GO  GO:1902531;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAG
SQ  PAAAAAAGMGVRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRK
SQ  DRASLQYRGLKAPPAPLAASEVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWA
SQ  SRTVNGSRLVPYSCRENYSDSEEEDDDDVASSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMND
SQ  RAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVNAKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSV
SQ  DSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPEEELLQQFKREEVSPTGSFSAHYLSMFLLTA
SQ  ACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQLAGDHECGSSSQRTLSVQEA
SQ  AAYLKDLGPEYEGIFNTSLQWILENGKDVGIRCVGFGPEEELTNITDVQFLQSTRPLMSFWCRFRRAFVTVTHRLLLLCL
SQ  GVVMVCVVLRYMKYRWTKEEEETRQMYDMVVKIIDVLRSHNEACQENKDLQPYMPIPHVRDSLIQPHDRKKMKKVWDRAV
SQ  DFLAANESRVRTETRRIGGADFLVWRWIQPSASCDKILVIPSKVWQGQAFHLDRRNSPPNSLTPCLKIRNMFDPVMEIGD
SQ  QWHLAIQEAILEKCSDNDGIVHIAVDKNSREGCVYVKCLSPEYAGKAFKALHGSWFDGKLVTVKYLRLDRYHHRFPQALT
SQ  SNTPLKPSNKHMNSMSHLRLRTGLTNSQGSS
//