Recombinant Human Elongator complex protein 1 (IKBKAP), partial

Code CSB-YP011571HU
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Source Yeast
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Code CSB-EP011571HU
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Source E.coli
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Code CSB-EP011571HU-B
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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-BP011571HU
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Source Baculovirus
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Code CSB-MP011571HU
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
ELP1
Uniprot No.
Alternative Names
DKFZp781H1425; DYS; Dysautonomia (Riley Day syndrome hereditary sensory autonomic neuropathy type III); Elongator complex protein 1; ELP 1; ELP1; ELP1_HUMAN; FD; FLJ12497; IKAP; IkappaB kinase complex associated protein; IkappaB kinase complex-associated protein; ikbkap; IKI 3; IKI3; IKK complex associated protein; IKK complex-associated protein; Inhibitor of kappa light polypeptide gene enhancer in B cells kinase complex associated protein; OTTHUMP00000063889; p150; TOT 1; TOT1
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
Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation. The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs. Involved in neurogenesis. Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation. May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK).
Gene References into Functions
  1. overexpression of miR-203a-3p leads to a decrease of NOVA1, counter-balanced by an increase of IKAP, supporting a potential interaction between NOVA1 and IKAP. PMID: 27483351
  2. IKAP might be a vesicular like protein that might be involved in neuronal transport in hESC derived PNS neurons PMID: 26437462
  3. The formation of the Elp1 dimer contributes to its stability in vitro and in vivo and is required for the assembly of human Elongator complexes. PMID: 26261306
  4. IKBKAP mRNA levels decreased during a familial dysautonomia crisis and returned to baseline after recovery. The cause-and-effect relationship is unclear. PMID: 24268683
  5. Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model for Familial dysautonomia. PMID: 23515154
  6. Digoxin-mediated repression of SRSF3 expression plays a role in the digoxin-mediated inclusion of exon 20 in the IKBKAP transcript generated from the familial dysautonomia mutant allele. PMID: 23711097
  7. Combined treatment with epigallocatechin gallate and genistein synergistically upregulates wild-type IKBKAP-encoded RNA and protein levels in familial dysautonomia-derived cells. PMID: 22495984
  8. IKAP plays pleiotropic roles in both the peripheral and central nervous systems PMID: 22384137
  9. IKAP/hELP1 deficiency has an effect on gene expression in differentiating neuroblastoma cells, and possibly on familial dysautonomia PMID: 21559466
  10. IKK complex-associated protein deficiency upregulates the microtubule destabilizing protein SCG10 and, in parallel, disorganizes the cytoskeleton PMID: 21273291
  11. Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells PMID: 21209961
  12. IKAP regulates contactin levels for appropriate cell-cell adhesion that could modulate neuronal growth of neurons during development PMID: 20671422
  13. IKAP is critical for the development of afferent baroreflex pathways and has therapeutic implications in the management of these patients. PMID: 21098405
  14. IKBKAP is a candidate gene for Hirschsprung's disease and was mapped to chromosome 9q31 locus. PMID: 20361209
  15. novel role for the I kappa B kinase complex-associated protein (IKAP) in the regulation of activation of the mammalian stress response via the c-Jun N-terminal kinase (JNK)-signaling pathway PMID: 12058026
  16. Genetics of familial dysautonomia; tissue-specific expression of a splicing mutation (REVIEW) PMID: 12102458
  17. Tissue-specific reduction in splicing efficiency of this protein is due to the major mutation associated with familial dysautonomia. PMID: 12577200
  18. The study results suggest that the polymorphisms in the coding region of the IKAP gene are unlikely to contribute to atopic disease risk in the Czech population. PMID: 12774215
  19. whereas IKBKAP (Elongator) is recruited to both target and nontarget genes, only target genes display histone H3 hypoacetylation and progressively lower RNAPII density through the coding region in familial dysautonomia cells PMID: 16713582
  20. Neurodevelopmental disease familial dysautonomia (FD)caused by a single-base change in the 5' splice site (5'ss) of intron 20 in the IKBKAP gene (c.2204+6T>C). PMID: 16964593
  21. investigated the nature of the FD splicing defect and the mechanism by which kinetin improves exon inclusion PMID: 17206408
  22. IKAP/hELP1 may play a role in oligodendrocyte differentiation and/or myelin formation. PMID: 17591626
  23. description of a humanized IKBKAP transgenic mouse that models a tissue-specific human splicing defect PMID: 17644305
  24. IKBKAP may have a role in familial dysautonomia PMID: 18091349
  25. Evidence for the role of the cytosolic interactions of IKAP in cell adhesion and migration, and support the notion that cell-motility deficiencies could contribute to familial dysautonomia. PMID: 18303054
  26. IKAP is crucial for both vascular and neural development during embryogenesis and that protein function is conserved between mouse and human. PMID: 19015235

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Involvement in disease
Neuropathy, hereditary sensory and autonomic, 3 (HSAN3)
Subcellular Location
Cytoplasm. Nucleus.
Protein Families
ELP1/IKA1 family
Database Links

HGNC: 5959

OMIM: 223900

KEGG: hsa:8518

STRING: 9606.ENSP00000363779

UniGene: Hs.494738

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