ID  P20700;
PN  Lamin-B1;
GN  LMNB1;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0180;
SL  Comments: Nucleus lamina {ECO:0000269|PubMed:28716252, ECO:0000269|PubMed:32910914}.
DR  UNIPROT: P20700;
DR  UNIPROT: B2R6J6;
DR  UNIPROT: Q3SYN7;
DR  UNIPROT: Q96EI6;
DR  PDB: 2KPW;
DR  PDB: 3JT0;
DR  PDB: 3TYY;
DR  PDB: 3UMN;
DR  PDB: 5VVX;
DR  PDB: 7DTG;
DR  Pfam: PF00038;
DR  Pfam: PF00932;
DR  PROSITE: PS00226;
DR  PROSITE: PS51842;
DR  PROSITE: PS51841;
DR  OMIM: 150340;
DR  OMIM: 169500;
DR  OMIM: 619179;
DR  DisGeNET: 4001;
DE  Function: Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. {ECO:0000269|PubMed:28716252, ECO:0000269|PubMed:32910914}.
DE  Disease: Leukodystrophy, demyelinating, autosomal dominant, adult-onset (ADLD) [MIM:169500]: A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. {ECO:0000269|PubMed:16951681, ECO:0000269|PubMed:28716252, ECO:0000269|PubMed:32910914}. Note=The disease is caused by variants affecting the gene represented in this entry. Microcephaly 26, primary, autosomal dominant (MCPH26) [MIM:619179]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH26 is an autosomal dominant, progressive form apparent at birth or in early infancy. It is associated with relative short stature, variable severity of intellectual disability, and neurological features as the core symptoms. Brain imaging shows a simplified gyral pattern of the cortex and abnormal corpus callosum in some patients. {ECO:0000269|PubMed:32910914, ECO:0000269|PubMed:33033404}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: O95295; IntAct: EBI-24720012; Score: 0.56
DE  Interaction: P01112; IntAct: EBI-27045317; Score: 0.27
DE  Interaction: P02545; IntAct: EBI-3931729; Score: 0.85
DE  Interaction: O00442; IntAct: EBI-1074462; Score: 0.00
DE  Interaction: O75815; IntAct: EBI-1076745; Score: 0.00
DE  Interaction: O94817; IntAct: EBI-1078202; Score: 0.00
DE  Interaction: P01889; IntAct: EBI-1080502; Score: 0.00
DE  Interaction: P63104; IntAct: EBI-7193843; Score: 0.40
DE  Interaction: Q9Z0E3; IntAct: EBI-2549710; Score: 0.35
DE  Interaction: O43918; IntAct: EBI-2571569; Score: 0.40
DE  Interaction: O95229; IntAct: EBI-2554675; Score: 0.40
DE  Interaction: Q62388; IntAct: EBI-2561739; Score: 0.40
DE  Interaction: P03208; IntAct: EBI-2622779; Score: 0.37
DE  Interaction: Q8N0X7; IntAct: EBI-2643801; Score: 0.35
DE  Interaction: Q5NID1; IntAct: EBI-2797339; Score: 0.00
DE  Interaction: Q5NGF6; IntAct: EBI-2805221; Score: 0.00
DE  Interaction: Q5NFX8; IntAct: EBI-2805214; Score: 0.00
DE  Interaction: A0A6L8P0F0; IntAct: EBI-2830445; Score: 0.00
DE  Interaction: A0A0F7RE19; IntAct: EBI-2830438; Score: 0.00
DE  Interaction: Q96RG2; IntAct: EBI-8614760; Score: 0.44
DE  Interaction: O75928; IntAct: EBI-8635777; Score: 0.37
DE  Interaction: P01011; IntAct: EBI-3904297; Score: 0.37
DE  Interaction: P18848; IntAct: EBI-3905626; Score: 0.37
DE  Interaction: Q14161; IntAct: EBI-3911123; Score: 0.37
DE  Interaction: Q9NS73; IntAct: EBI-3919112; Score: 0.37
DE  Interaction: Q9H221; IntAct: EBI-3919122; Score: 0.37
DE  Interaction: P20700; IntAct: EBI-7660681; Score: 0.44
DE  Interaction: P19320; IntAct: EBI-6189915; Score: 0.35
DE  Interaction: Q5S007; IntAct: EBI-6515052; Score: 0.62
DE  Interaction: P33993; IntAct: EBI-6875195; Score: 0.35
DE  Interaction: P25490; IntAct: EBI-6921458; Score: 0.35
DE  Interaction: Q14781; IntAct: EBI-8831509; Score: 0.35
DE  Interaction: Q8NDX5; IntAct: EBI-8834623; Score: 0.35
DE  Interaction: Q9WMX2; IntAct: EBI-9081801; Score: 0.37
DE  Interaction: Q13418; IntAct: EBI-10103376; Score: 0.35
DE  Interaction: P19838; IntAct: EBI-11322719; Score: 0.35
DE  Interaction: P05412; IntAct: EBI-11323169; Score: 0.35
DE  Interaction: Q8IYM1; IntAct: EBI-10820442; Score: 0.43
DE  Interaction: P48678; IntAct: EBI-11044755; Score: 0.35
DE  Interaction: P57716; IntAct: EBI-11047104; Score: 0.35
DE  Interaction: P42167; IntAct: EBI-11061883; Score: 0.35
DE  Interaction: Q9Z2X1; IntAct: EBI-11066678; Score: 0.35
DE  Interaction: P52294; IntAct: EBI-11101301; Score: 0.67
DE  Interaction: P48681; IntAct: EBI-11119785; Score: 0.35
DE  Interaction: Q5T3F8; IntAct: EBI-11155257; Score: 0.35
DE  Interaction: O96017; IntAct: EBI-11579031; Score: 0.35
DE  Interaction: Q05BL1; IntAct: EBI-24309992; Score: 0.56
DE  Interaction: Q03252; IntAct: EBI-24353827; Score: 0.75
DE  Interaction: Q8TC57; IntAct: EBI-24673547; Score: 0.56
DE  Interaction: Q7KZS0; IntAct: EBI-24764330; Score: 0.56
DE  Interaction: Q9NPF5; IntAct: EBI-24769028; Score: 0.56
DE  Interaction: Q96KQ4; IntAct: EBI-24381926; Score: 0.56
DE  Interaction: A6NC98; IntAct: EBI-24395535; Score: 0.56
DE  Interaction: Q9H3R5; IntAct: EBI-24404669; Score: 0.56
DE  Interaction: Q9Y6X4; IntAct: EBI-24534698; Score: 0.56
DE  Interaction: O60684; IntAct: EBI-24538749; Score: 0.56
DE  Interaction: O15131; IntAct: EBI-24569702; Score: 0.56
DE  Interaction: Q8WWB5; IntAct: EBI-24591506; Score: 0.56
DE  Interaction: Q6IQ23; IntAct: EBI-16398399; Score: 0.35
DE  Interaction: Q05322; IntAct: EBI-15481401; Score: 0.50
DE  Interaction: P04899; IntAct: EBI-21767972; Score: 0.35
DE  Interaction: Q9UID3; IntAct: EBI-16150241; Score: 0.35
DE  Interaction: Q9GZQ8; IntAct: EBI-16183096; Score: 0.68
DE  Interaction: Q9BXW4; IntAct: EBI-16183136; Score: 0.44
DE  Interaction: Q9H492; IntAct: EBI-16183296; Score: 0.44
DE  Interaction: O95166; IntAct: EBI-16183467; Score: 0.44
DE  Interaction: Q7KZN9; IntAct: EBI-20304305; Score: 0.35
DE  Interaction: P36957; IntAct: EBI-20305285; Score: 0.35
DE  Interaction: P08559; IntAct: EBI-20306509; Score: 0.35
DE  Interaction: P31040; IntAct: EBI-20306992; Score: 0.35
DE  Interaction: P00441; IntAct: EBI-20307497; Score: 0.35
DE  Interaction: P21796; IntAct: EBI-20307902; Score: 0.35
DE  Interaction: Q9HCE5; IntAct: EBI-20595531; Score: 0.35
DE  Interaction: Q53F19; IntAct: EBI-20623276; Score: 0.35
DE  Interaction: O00160; IntAct: EBI-20915992; Score: 0.40
DE  Interaction: Q5TID7; IntAct: EBI-20918404; Score: 0.40
DE  Interaction: P18433; IntAct: EBI-20918972; Score: 0.40
DE  Interaction: O95863; IntAct: EBI-20920860; Score: 0.40
DE  Interaction: A2A935; IntAct: EBI-21022882; Score: 0.35
DE  Interaction: P14404; IntAct: EBI-21026252; Score: 0.35
DE  Interaction: P13569; IntAct: EBI-25416349; Score: 0.53
DE  Interaction: Q16526; IntAct: EBI-21981854; Score: 0.35
DE  Interaction: P36956; IntAct: EBI-22057635; Score: 0.49
DE  Interaction: P0DOF2; IntAct: EBI-25603126; Score: 0.35
DE  Interaction: P0DTC5; IntAct: EBI-26495256; Score: 0.35
DE  Interaction: Q8TB24; IntAct: EBI-26518569; Score: 0.35
DE  Interaction: P01116; IntAct: EBI-27041844; Score: 0.27
DE  Interaction: A0A0H3NFP4; IntAct: EBI-27055788; Score: 0.27
DE  Interaction: A0A0H3NG92; IntAct: EBI-27055968; Score: 0.27
DE  Interaction: Q8NCK7; IntAct: EBI-27103180; Score: 0.35
GO  GO:0005638;
GO  GO:0016020;
GO  GO:0005635;
GO  GO:0005637;
GO  GO:0005652;
GO  GO:0016363;
GO  GO:0031965;
GO  GO:0005654;
GO  GO:0005634;
GO  GO:0043274;
GO  GO:1990837;
GO  GO:0005200;
GO  GO:0005198;
GO  GO:0031507;
GO  GO:0006998;
GO  GO:0007097;
GO  GO:0051664;
GO  GO:0090435;
TP  Membrane Topology: Lipid-Anchored; Source: UniProt - Experimental Evidence {ECO:0000269|PubMed:2684976};
SQ  MATATPVPPRMGSRAGGPTTPLSPTRLSRLQEKEELRELNDRLAVYIDKVRSLETENSALQLQVTEREEVRGRELTGLKA
SQ  LYETELADARRALDDTARERAKLQIELGKCKAEHDQLLLNYAKKESDLNGAQIKLREYEAALNSKDAALATALGDKKSLE
SQ  GDLEDLKDQIAQLEASLAAAKKQLADETLLKVDLENRCQSLTEDLEFRKSMYEEEINETRRKHETRLVEVDSGRQIEYEY
SQ  KLAQALHEMREQHDAQVRLYKEELEQTYHAKLENARLSSEMNTSTVNSAREELMESRMRIESLSSQLSNLQKESRACLER
SQ  IQELEDLLAKEKDNSRRMLTDKEREMAEIRDQMQQQLNDYEQLLDVKLALDMEISAYRKLLEGEEERLKLSPSPSSRVTV
SQ  SRASSSRSVRTTRGKRKRVDVEESEASSSVSISHSASATGNVCIEEIDVDGKFIRLKNTSEQDQPMGGWEMIRKIGDTSV
SQ  SYKYTSRYVLKAGQTVTIWAANAGVTASPPTDLIWKNQNSWGTGEDVKVILKNSQGEEVAQRSTVFKTTIPEEEEEEEEA
SQ  AGVVVEEELFHQQGTPRASNRSCAIM
//