Property Summary

NCBI Gene PubMed Count 23
PubMed Score 188.48
PubTator Score 108.64

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
psoriasis -1.200 1.2e-04
osteosarcoma -1.137 1.2e-03
medulloblastoma, large-cell -1.200 1.6e-03
lung cancer 1.500 5.5e-05
subependymal giant cell astrocytoma -1.095 1.9e-02
ovarian cancer -1.200 1.9e-05

Gene RIF (18)

PMID Text
26135202 A novel mutation in LEMD3 splice site results in Buschke-Ollendorff syndrome.
25182847 Data indicate that the inner nuclear membrane protein MAN1 directly binds the transcription activator BMAL1 promoter and enhances its transcription.
23779087 a nuclear envelope-localized mechanism of inactivating TGF-beta signaling in which MAN1 competes with transcription factors for binding to Smad2 and Smad3 and facilitates their dephosphorylation by PPM1A.
21966431 The absence of direct binding of BAF to MAN1-C eliminates disruption of this interaction as the cause of the premature aging phenotype.
20732851 Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression.
20678097 Genetic analyses of three generations of a family with Buschke-Ollendorff syndrome having a variable phenotype showed a novel c.2203C>T nonsense mutation at the LEMD3 locus. The mutation induced a change in the 735 arginine codon to a stop codon.
20618940 We found a novel c.2203C > T (p.R735X) mutation in exon 9 of LEMD3, resulting in a premature stop codon at amino acid position 735.
20083694 Absence of LEMD3 mutation in the exons and splice sites of a family with BOS suggests that there is genetic heterogeneity for this disorder.
19438932 Identified two mutations in the two cases of Buschke-Ollendorff syndrome. The mutation (c.2564G>A) is novel. The present study supports the general conclusion that LEMD3 mutations do not contribute to isolated sporadic melorheostosis.
17622481 The LEMD3 mutation reported was clearly the cause of osteopoikilosis in the two families but its relationship to melorheostosis in one of the family members is still unclear.
17505164 novel heterozygous splice-site mutation in a Japanese kindred with Buschke-Ollendorff syndrome
17223882 novel mutation associated with familial cutaneous collagenomas
16648637 MAN1 binds simultaneously to R-Smads and their targeted DNA sequences
16470551 germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis
15681850 Data describe the direct binding of the nuclear membrane protein MAN1 to emerin in vitro.
15647271 Overexpression results in inhibition of R-Smad phosphorylation, heterodimerization with Smad4, and nuclear translocation
15601644 The C-terminal domain of human MAN1 binds to Smad2 and Smad3 and antagonizes signaling by transforming growth factor-beta
15601644 Binds to Smad2 and Smad3 and antagonizes signaling by transforming growth factor-beta

AA Sequence

MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNN      1 - 70
TAAATVAAAGPAAAAAAGMGVRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFS     71 - 140
SDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAASEVTNSNSAERRKPHSWWGARRPAGPELQTP    141 - 210
PGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVASSRQVLKDDS    211 - 280
LSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVD    281 - 350
SSPVPRYRVNAKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASS    351 - 420
SLRINHANHTGSNHTYLKNTYNKPKLSEPEEELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGL    421 - 490
TYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQLAGDHECGSSSQRTLSVQEA    491 - 560
AAYLKDLGPEYEGIFNTSLQWILENGKDVGIRCVGFGPEEELTNITDVQFLQSTRPLMSFWCRFRRAFVT    561 - 630
VTHRLLLLCLGVVMVCVVLRYMKYRWTKEEEETRQMYDMVVKIIDVLRSHNEACQENKDLQPYMPIPHVR    631 - 700
DSLIQPHDRKKMKKVWDRAVDFLAANESRVRTETRRIGGADFLVWRWIQPSASCDKILVIPSKVWQGQAF    701 - 770
HLDRRNSPPNSLTPCLKIRNMFDPVMEIGDQWHLAIQEAILEKCSDNDGIVHIAVDKNSREGCVYVKCLS    771 - 840
PEYAGKAFKALHGSWFDGKLVTVKYLRLDRYHHRFPQALTSNTPLKPSNKHMNSMSHLRLRTGLTNSQGS    841 - 910
S//

Text Mined References (33)

PMID Year Title
26135202 Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.
25182847 2014 Nuclear envelope protein MAN1 regulates clock through BMAL1.
24407287 2014 Promyelocytic leukemia protein interacts with the apoptosis-associated speck-like protein to limit inflammasome activation.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23779087 2013 Inhibition of TGF-? signaling at the nuclear envelope: characterization of interactions between MAN1, Smad2 and Smad3, and PPM1A.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21966431 2011 No interaction of barrier-to-autointegration factor (BAF) with HIV-1 MA, cone-rod homeobox (Crx) or MAN1-C in absence of DNA.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20732851 Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression.
20678097 Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3.
20618940 2010 Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.
20083694 2010 Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19438932 2009 Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17622481 2007 A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis.
17505164 2007 A novel heterozygous splice-site mutation of LEM domain-containing 3 in a Japanese kindred with Buschke-Ollendorff syndrome.
17223882 2007 Familial cutaneous collagenomas resulting from a novel mutation in LEMD3.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16648637 2006 The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domain.
16470551 2006 Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
15681850 2005 Direct binding of nuclear membrane protein MAN1 to emerin in vitro and two modes of binding to barrier-to-autointegration factor.
15647271 2005 The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-{beta} superfamily of cytokines.
15601644 2005 MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling.
15489854 2004 Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
15231748 2004 Functional proteomics mapping of a human signaling pathway.
11896184 2002 Intracellular trafficking of MAN1, an integral protein of the nuclear envelope inner membrane.
10671519 2000 MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin.