Homo sapiens Gene: LEMD3
Summary
InnateDB Gene IDBG-45263.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LEMD3
Gene Name LEM domain containing 3
Synonyms MAN1;
Species Homo sapiens
Ensembl Gene ENSG00000174106
Encoded Proteins
LEM domain containing 3
Protein Structure
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:65169571-65248327
Strand Forward strand
Band q14.3
Transcripts
ENST00000308330 ENSP00000308369
ENST00000541171
ENST00000542032
ENST00000544506
ENST00000539442
ENST00000545026
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Initiation of Nuclear Envelope Reformation pathway
Cell Cycle pathway
M Phase pathway
Mitotic Anaphase pathway
Mitotic Prophase pathway
Nuclear Envelope Reassembly pathway
Cell Cycle, Mitotic pathway
Depolymerisation of the Nuclear Lamina pathway
Nuclear Envelope Breakdown pathway
Clearance of Nuclear Envelope Membranes from Chromatin pathway
Mitotic Metaphase and Anaphase pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9Y2U8
TrEMBL A0A024RBB9 B4DI45
UniProt Splice Variant
Entrez Gene 23592
UniGene Hs.505905 Hs.600518 Hs.607662 Hs.743877
RefSeq NM_001167614 NM_014319
HUGO HGNC:28887
OMIM 607844
CCDS CCDS8972
HPRD 09704
IMGT
EMBL AF112299 AF180135 AF180136 AF180137 AF180138 AF180139 AF180140 AF180141 AF180142 AF263918 AK295406 AL137533 CH471054
GenPept AAD31593 AAF73293 BAG58357 CAB70796 EAW97148 EAW97149
ImmGen LEMD3 (murine)
RNA Seq Atlas 23592