Sequence in raw or FASTA format:
LEMD3 LEM domain containing 3 [Homo sapiens (human)]
|Entrez Gene ID||23592|
|Full Name||LEM domain containing 3|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009].|
Osteopoikilosis, 166700 (3); Buschke-Ollendorff syndrome, 166700 (3);
|REACT_152||Cell Cycle, Mitotic|
|REACT_150314||Mitotic Metaphase and Anaphase|
|REACT_160242||Initiation of Nuclear Envelope Reformation|
|REACT_160251||Clearance of Nuclear Envelope Membranes from Chromatin|
|REACT_160113||Nuclear Envelope Reassembly|
|REACT_160255||Nuclear Envelope Breakdown|
|REACT_200828||Depolymerisation of the Nuclear Lamina|
|Homo sapiens (human)||LEMD3||NP_055134.2|
|Pan troglodytes (chimpanzee)||LEMD3||XP_509197.2|
|Macaca mulatta (Rhesus monkey)||LEMD3||XP_001116983.1|
|Canis lupus familiaris (dog)||LEMD3||XP_005625712.1|
|Bos taurus (cattle)||LEMD3||NP_001179628.1|
|Mus musculus (house mouse)||Lemd3||NP_001074662.2|
|Rattus norvegicus (Norway rat)||Lemd3||NP_001177929.1|
|Gallus gallus (chicken)||LEMD3||XP_416073.3|
|Danio rerio (zebrafish)||lemd3||NP_001038329.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||lemd3||NP_001136130.1|
|GO:0030512||negative regulation of transforming growth factor beta receptor signaling pathway||IDA|
|GO:0030514||negative regulation of BMP signaling pathway||IDA|
|GO:0032926||negative regulation of activin receptor signaling pathway||IDA|
|GO:0035914||skeletal muscle cell differentiation||IEA|
|GO:0051726||regulation of cell cycle||IEA|
|GO:0005637||nuclear inner membrane||IDA|
|GO:0005639||integral component of nuclear inner membrane||IEA|
|GO:0016021||integral component of membrane||IDA|
What is the normal function of the LEMD3 gene?
The LEMD3 gene provides instructions for making a protein that is located in the inner membrane of the nuclear envelope. The nuclear envelope is a cell structure that surrounds the nucleus, acting as a barrier between the nucleus and the rest of the cell.
The LEMD3 protein helps control two chemical signaling pathways called the transforming growth factor beta (TGF-β) pathway and the bone morphogenic protein (BMP) pathway. Signaling through these pathways turns on (activates) proteins called Smads, which attach (bind) to specific areas of DNA to activate certain genes. The TGF-β and BMP pathways regulate various cellular processes, including cell growth and division (proliferation), the process by which cells mature to carry out special functions (differentiation), and the self-destruction of cells (apoptosis). These pathways are also involved in the growth of new bone.
The LEMD3 protein interacts with Smads to reduce signaling through the BMP and TGF-β pathways. In this way, the LEMD3 protein helps keep signaling at normal levels within the cell.
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