Recombinant Human Inner nuclear membrane protein Man1 (LEMD3), partial

Code CSB-YP896701HU
MSDS
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Source Yeast
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Code CSB-EP896701HU
MSDS
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Source E.coli
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Code CSB-EP896701HU-B
MSDS
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP896701HU
MSDS
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Source Baculovirus
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Code CSB-MP896701HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
LEMD3
Uniprot No.
Alternative Names
Inner nuclear membrane protein Man1; LEM domain containing protein 3 ; LEM domain-containing protein 3; LEMD3; MAN1_HUMAN
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

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Target Background

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.
Gene References into Functions
  1. studies demonstrated that lower levels of MAN1 in differentiating MSC are associated with higher osteogenesis and lower adipogenesis. High levels of MAN1 only affected adipogenesis. PMID: 28449239
  2. LAMD3 Y871X mutation is associated with osteopoikilosis. PMID: 26694706
  3. Letter/Case-Report: novel frameshift mutation in RNA recognition motif of LEMD3 in patient with Buschke-Ollendorff syndrome. PMID: 26711937
  4. A novel mutation in LEMD3 splice site results in Buschke-Ollendorff syndrome. PMID: 26135202
  5. Data indicate that the inner nuclear membrane protein MAN1 directly binds the transcription activator BMAL1 promoter and enhances its transcription. PMID: 25182847
  6. 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. PMID: 23779087
  7. The absence of direct binding of BAF to MAN1-C eliminates disruption of this interaction as the cause of the premature aging phenotype. PMID: 21966431
  8. Genetic analyses of three generations of a family with Buschke-Ollendorff syndrome having a variable phenotype showed a novel c.2203C>T nonsense mutation at the LEMD3 locus. The mutation induced a change in the 735 arginine codon to a stop codon. PMID: 20678097
  9. Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression. PMID: 20732851
  10. We found a novel c.2203C > T (p.R735X) mutation in exon 9 of LEMD3, resulting in a premature stop codon at amino acid position 735. PMID: 20618940
  11. Absence of LEMD3 mutation in the exons and splice sites of a family with BOS suggests that there is genetic heterogeneity for this disorder. PMID: 20083694
  12. The C-terminal domain of human MAN1 binds to Smad2 and Smad3 and antagonizes signaling by transforming growth factor-beta PMID: 15601644
  13. Overexpression results in inhibition of R-Smad phosphorylation, heterodimerization with Smad4, and nuclear translocation PMID: 15647271
  14. Data describe the direct binding of the nuclear membrane protein MAN1 to emerin in vitro. PMID: 15681850
  15. germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis PMID: 16470551
  16. MAN1 binds simultaneously to R-Smads and their targeted DNA sequences PMID: 16648637
  17. novel mutation associated with familial cutaneous collagenomas PMID: 17223882
  18. novel heterozygous splice-site mutation in a Japanese kindred with Buschke-Ollendorff syndrome PMID: 17505164
  19. The LEMD3 mutation reported was clearly the cause of osteopoikilosis in the two families but its relationship to melorheostosis in one of the family members is still unclear. PMID: 17622481
  20. Identified two mutations in the two cases of Buschke-Ollendorff syndrome. The mutation (c.2564G>A) is novel. The present study supports the general conclusion that LEMD3 mutations do not contribute to isolated sporadic melorheostosis. PMID: 19438932
  21. Binds to Smad2 and Smad3 and antagonizes signaling by transforming growth factor-beta PMID: 15601644

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Involvement in disease
Buschke-Ollendorff syndrome (BOS)
Subcellular Location
Nucleus inner membrane; Multi-pass membrane protein.
Tissue Specificity
Heart, brain, placenta, lung, liver and skeletal muscle.
Database Links

HGNC: 28887

OMIM: 166700

KEGG: hsa:23592

STRING: 9606.ENSP00000308369

UniGene: Hs.744150

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