InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LEMD3

Summary

InnateDB Protein

IDBP-45265.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LEMD3

Protein Name

LEM domain containing 3

Synonyms

MAN1;

Species

Homo sapiens

Ensembl Protein

ENSP00000308369

InnateDB Gene

IDBG-45263 (LEMD3)

Protein Structure

UniProt Annotation

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:0000269PubMed:15601644, ECO:0000269PubMed:15647271}.

Subcellular Localization

Nucleus inner membrane {ECO:0000269PubMed:15647271}; Multi-pass membrane protein {ECO:0000269PubMed:15647271}.

Disease Associations

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:0000269PubMed:15489854}. Note=The disease is caused by mutations affecting the gene represented in this entry.Melorheostosis (MEL) [MIM:155950]: Rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Heart, brain, placenta, lung, liver and skeletal muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003677	DNA binding
GO:0005515	protein binding

Biological Process

GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030514	negative regulation of BMP signaling pathway
GO:0032926	negative regulation of activin receptor signaling pathway
GO:0035914	skeletal muscle cell differentiation
GO:0051726	regulation of cell cycle

Cellular Component

GO:0005635	nuclear envelope
GO:0005637	nuclear inner membrane
GO:0005639	integral component of nuclear inner membrane
GO:0016020	membrane
GO:0016021	integral component of membrane