Recombinant Human Obscurin-like protein 1 (OBSL1), partial

Code CSB-YP016254HU
MSDS
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Source Yeast
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Code CSB-EP016254HU
MSDS
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Source E.coli
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Code CSB-EP016254HU-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-BP016254HU
MSDS
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Source Baculovirus
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Code CSB-MP016254HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
OBSL1
Uniprot No.
Alternative Names
KIAA0657; Obscurin-like protein 1; OBSL1; OBSL1_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.
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
Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer. Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons.
Gene References into Functions
  1. Crystal structure of the obscurin(-like-1):myomesin complex reveals a trans-complementation mechanism whereby an incomplete immunoglobulin-like domain assimilates an isoform-specific myomesin interdomain sequence. PMID: 27989621
  2. Data indicate that the patient has a homozygous mutation in obscurin like 1 obscurin-like protein 1 (OBSL1) gene, and that both of the parents had heterozygous mutations on OBSL1. PMID: 27796265
  3. The cytoskeletal adaptor OBSL1 was discovered as a previously unrecognized interaction partner of the minor capsid protein L2 and was identified as a proviral host factor required for HPV16 endocytosis into target cells. PMID: 27654294
  4. High-quality solution NMR structures of immunoglobulin-like domains 7 and 12 from human obscurin-like protein 1 were solved. The two domains share 30% sequence identity and their structures are, as expected, rather similar. PMID: 24989974
  5. CUL7, OBSL1 and CCDC8 modulate the alternative splicing of the INSR PMID: 24711643
  6. The CUL7, OBSL1, and CCDC8 proteins form a 3M complex that functions in maintaining microtubule and genome integrity and normal development. PMID: 24793695
  7. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. PMID: 23018678
  8. discussion of roles of OBSL1, CUL7 (cullin 7), and CCDC8 (coiled-coil domain containing protein 8) in growth and development using findings from patients with Miller-McKusick-Malvaux syndrome and Silver-Russell syndrome [REVIEW] PMID: 22156540
  9. We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth. PMID: 21737058
  10. OBSL1 modulates the expression of IGFBP2 and IGFBP5 proteins in 3-M syndrome. PMID: 19877176
  11. report the cloning and characterization of OBSL1; OBSL1 is located on human chromosome 2q35 within 100 kb of SPEG, another gene related to obscurin PMID: 17289344
  12. Loss of OBSL1 leads to downregulation of CUL7 and results in primordial growth disorder 3-M syndrome. PMID: 19481195
  13. N-terminal Ig-domains of Obsl1 and Obscurin (Obsc) bind to titin-M10 and myomesin. Titin mutations, linked to limb-girdle muscular dystrophy 2J (LGMD2J) or Salih myopathy, weaken or abrogate titin-Obsc and titin-Obsl1 binding. PMID: 18477606

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Involvement in disease
3M syndrome 2 (3M2)
Subcellular Location
Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, perinuclear region. Golgi apparatus. Note=Colocalizes with CUL7 at the Golgi apparatus in neurons (PubMed:21572988).
Tissue Specificity
Widely expressed, with predominant levels found in the heart.
Database Links

HGNC: 29092

OMIM: 610991

KEGG: hsa:23363

STRING: 9606.ENSP00000385636

UniGene: Hs.526594

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