Lemd3 LEM domain containing 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lemd3provided by MGI
Official Full Name: LEM domain containing 3provided by MGI
Primary source: MGI:MGI:3580376
See related: Ensembl:ENSMUSG00000048661 AllianceGenome:MGI:3580376
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Man1
Summary: Predicted to enable chromatin DNA binding activity. Acts upstream of or within several processes, including blood vessel endothelial cell migration involved in intussusceptive angiogenesis; regulation of extracellular matrix organization; and skeletal muscle cell differentiation. Located in nuclear envelope. Is expressed in several structures, including allantois; foregut diverticulum endoderm; lateral plate mesoderm; neural plate; and primitive streak. Human ortholog(s) of this gene implicated in Buschke-Ollendorff syndrome. Orthologous to human LEMD3 (LEM domain containing 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E18 (RPKM 6.1), cerebellum adult (RPKM 5.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 D2; 10 68.88 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (120759316..120815491, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (120923411..120979396, complement)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Title: Inhibition of TGF-β signaling at the nuclear envelope: characterization of interactions between MAN1, Smad2 and Smad3, and PPM1A.
the heterozygous Lemd3 gene-trapped mouse is not a good model to study osteopoikilosis and the Buschke-Ollendorff syndrome.
Title: The heterozygous Lemd3 +/GT mouse is not a murine model for osteopoikilosis in humans.
Man1 regulates left-right asymmetry by controlling Nodal signaling in a node-independent manner
Title: Man1, an inner nuclear membrane protein, regulates left-right axis formation by controlling nodal signaling in a node-independent manner.
The nuclear envelope protein MAN1 regulates TGFbeta signaling and vasculogenesis in the embryonic yolk sac.
Title: The nuclear envelope protein MAN1 regulates TGFbeta signaling and vasculogenesis in the embryonic yolk sac.
In Man1-deficient embryos, the expression of Tgfb1 is upregulated and Smad2/3 signaling is abnormally activated, resulting in increased extracellular matrix deposition, a hallmark of the resolution phase of angiogenesis.
Title: Man1, an inner nuclear membrane protein, regulates vascular remodeling by modulating transforming growth factor beta signaling.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel endothelial cell migration involved in intussusceptive angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of BMP signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of activin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in nuclear envelope organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within nucleus organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear inner membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: inner nuclear membrane protein Man1

Names: LEM domain-containing protein 3; integral inner nuclear membrane protein MAN1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001081193.2 → NP_001074662.2 inner nuclear membrane protein Man1

Status: VALIDATED

Source sequence(s)

AC140381, AF112300, AI842096, AK140538, BC082610, BF458366

Consensus CDS

CCDS48703.1

UniProtKB/Swiss-Prot

Q0VGU6, Q3USB5, Q9WU40

UniProtKB/TrEMBL

E9QP59

Related

ENSMUSP00000113103.2, ENSMUST00000119944.8

Conserved Domains (3) summary

cd12286
Location:792 → 883

RRM_Man1; RNA recognition motif in inner nuclear membrane protein Man1 (Man1) and similar proteins

pfam09402
Location:576 → 755

MSC; Man1-Src1p-C-terminal domain

cl02649
Location:10 → 48

LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins