LEMD3 (LEM domain containing 3)

2010-11-01  

Identity

HGNC
LOCATION
12q14.3
LOCUSID
ALIAS
MAN1
FUSION GENES

Other Information

Locus ID:

NCBI: 23592
MIM: 607844
HGNC: 28887
Ensembl: ENSG00000174106

Variants:

dbSNP: 23592
ClinVar: 23592
TCGA: ENSG00000174106
COSMIC: LEMD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174106ENST00000308330Q9Y2U8
ENSG00000174106ENST00000308330A0A024RBB9

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic ProphaseREACTOMER-HSA-68875
Nuclear Envelope BreakdownREACTOMER-HSA-2980766
Clearance of Nuclear Envelope Membranes from ChromatinREACTOMER-HSA-2993913
Depolymerisation of the Nuclear LaminaREACTOMER-HSA-4419969
Mitotic Metaphase and AnaphaseREACTOMER-HSA-2555396
Mitotic AnaphaseREACTOMER-HSA-68882
Nuclear Envelope ReassemblyREACTOMER-HSA-2995410
Initiation of Nuclear Envelope ReformationREACTOMER-HSA-2995383

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
156016442005MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling.62
156016442005MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling.62
156472712005The 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.57
156818502005Direct binding of nuclear membrane protein MAN1 to emerin in vitro and two modes of binding to barrier-to-autointegration factor.51
166486372006The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domain.28
237790872013Inhibition of TGF-β signaling at the nuclear envelope: characterization of interactions between MAN1, Smad2 and Smad3, and PPM1A.18
164705512006Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.14
251828472014Nuclear envelope protein MAN1 regulates clock through BMAL1.11
200836942010Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.9
219664312011No interaction of barrier-to-autointegration factor (BAF) with HIV-1 MA, cone-rod homeobox (Crx) or MAN1-C in absence of DNA.9

Citation

Dessen P

LEMD3 (LEM domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2010-11-01

Online version: http://atlasgeneticsoncology.org/gene/51755/lemd3