Recombinant Human CECR1 Protein (His Tag)

Beta LifeScience SKU/CAT #: BLPSN-1216

Recombinant Human CECR1 Protein (His Tag)

Beta LifeScience SKU/CAT #: BLPSN-1216
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Product Overview

Tag His
Host Species Human
Accession AAH51755.1
Description A DNA sequence encoding the human CECR1 (AAH51755.1) (Met1-Lys511) was expressed with a C-terminal His tag.
Source Baculovirus-Insect cells
Predicted N Terminal Ile 30
AA Sequence Met1-Lys511
Molecular Weight The secreted recombinant human CECR1 consists of 492 a.a. and predicts a molecular mass of 57.3 KDa. The apparent molecular mass of the protein is approximately 58 KDa in SDS-PAGE under reducing conditions.
Purity >90% as determined by SDS-PAGE
Endotoxin < 1.0 EU per μg of the protein as determined by the LAL method
Bioactivity Please contact us for detailed information
Formulation Lyophilized from sterile 20mM Tris, 500mM NaCl, 10% glycerol, pH 8.0..
Stability The recombinant proteins are stable for up to 1 year from date of receipt at -70°C.
Usage For Research Use Only
Storage Store the protein under sterile conditions at -20°C to -80°C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.

Target Details

Target Function Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity.
Subcellular Location Secreted.
Protein Families Metallo-dependent hydrolases superfamily, Adenosine and AMP deaminases family, ADGF subfamily
Database References
Associated Diseases Polyarteritis nodosa (PAN); Sneddon syndrome (SNDDS)
Tissue Specificity Detected in blood plasma (at protein level). Widely expressed, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In embryo, expressed in the outflow tract and atrium of the devel

Gene Functions References

  1. Adenosine deaminase type 2 deficiency with a homozygous premature stop codon masquerading as GATA2 deficiency: successful haploidentical sibling hematopoietic stem cell transplantation. PMID: 27130863
  2. Deficiency of ADA2 causes IgA-IgG antibody deficiencies in a family. PMID: 26922074
  3. High CECR1 activity is associated with brain tumor. PMID: 28453746
  4. Data show that 2 patients required a second transplant for engraftment failure were discovered to carry the deleterious ADA2 adenosine deaminase (CECR1) mutations and be ADA2 deficient. PMID: 28974505
  5. CECR1 function in (M2-like) macrophages mediates cross talk between macrophages and pericytes in GBM via paracrine PDGFB-PDGFRbeta signaling, promoting pericyte recruitment and migration, and tumor angiogenesis. PMID: 28534507
  6. We discuss three newly described monogenic autoinflammatory diseases [deficiency of adenosine deaminase 2 (DADA2), a subtype of macrophage activation syndrome (MAS), and stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI)], discuss the possibilities of somatic mosaicism and digenic inheritance, and give an update on new concepts in pathways involved in familial Mediterranean fever PMID: 27362340
  7. Findings indicate that ADA2 deficiency presents not only with vasculopathy but also with an immunodeficiency of the B cell compartment. Therefore, patients with antibody deficiency should be screened for ADA2 deficiency. PMID: 28493328
  8. The clinical manifestations of adenosine deaminase 2 deficiency ranged in severity from limited cutaneous involvement to severe multisystemic vasculitis; one-third of our cases (5 of 15) were currently asymptomatic, and required close monitoring. We recommend CECR1 screening for unaffected siblings of index cases, cases of familial vasculitis, and cases of PAN that is resistant to standard treatment PMID: 27059682
  9. Deficiency of Adenosine Deaminase 2 (DADA2) is a new autoinflammatory disease secondary to autosomal recessive mutations of CECR1 (Cat Eye Syndrome Chromosome Region 1) gene, mapped to chromosome 22q11.1. PMID: 27609179
  10. IL-17 receptor A and adenosine deaminase 2 deficiency due to deletion mutations was found in siblings with chronic mucocutaneous candidiasis and chronic systemic inflammation. PMID: 26607704
  11. This case series revealed large phenotypic variability in patients with ADA2 deficiency though they were homozygous for the same R169Q mutation in CECR1. PMID: 26867732
  12. Ectopic expression of miR-146b-3p suppressed ADA2 expression, activity, and TNF-alpha release in the AGA-treated human macrophages PMID: 25815338
  13. In patients with unexplained young-onset lacunar stroke accompanied by systemic inflammation and a positive family history suspicious of recessively inherited disease, ADA2 deficiency needs to be considered in the differential diagnosis. PMID: 25888558
  14. ADA2 (CECR1) may act as a regulator of neutrophil activation, and that a reduction of ADA2 activity results in significant endothelial damage via a neutrophil-driven process. PMID: 25278816
  15. We report on a 5-year-old girl with a severe vasculopathy who carried two novel mutations in CECR1. PMID: 24737293
  16. Loss-of-function mutations in CECR1 were associated with a spectrum of vascular and inflammatory phenotypes, ranging from early-onset recurrent stroke to systemic vasculopathy or vasculitis. PMID: 24552284
  17. Recessive loss-of-function mutations of ADA2, a growth factor that is the major extracellular adenosine deaminase, can cause polyarteritis nodosa vasculopathy with highly varied clinical expression. PMID: 24552285
  18. Increased ADA2 expression and activity are identified in human and porcine retinas with diabetes. PMID: 23685153
  19. Plasma AD2 may have a role in determining tumour response to treatment. PMID: 22558798
  20. The crystal structures of ADA2 and ADA2 bound to a transition state analogue presented here reveal the structural basis of the catalytic/signaling activity of adenosine deaminase growth factor/ADA2 proteins. PMID: 20147294
  21. findings show ADA2 is encoded by the CECR1 gene & belongs to novel family of ADA-related growth factors;ADA2 may be active in sites of inflammation during hypoxia & in areas of tumour growth where adenosine is elevated & extracellular pH is acidic PMID: 15926889


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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

To learn more about how to properly dissolve the lyophilized recombinant protein, please visit Lyophilization FAQs.

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