CD46
Recombinant ID:
3256
Gene of Interest
Gene Synonyms:
CD46;MCP;MIC10
Protein Names:
Membrane cofactor protein (TLX) (Trophoblast leukocyte common antigen) (CD antigen CD46)
Accession Data
Organism:
Homo sapiens (Human)
Mass (kDa):
43747
Length (aa):
392
Metal Binding:
Pending Verification
Proteomics (Proteome ID):
Membrane cofactor protein (TLX) (Trophoblast leukocyte common antigen) (CD antigen CD46)
Proteomics (Chromosome):
UP000005640
Disease:
Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. {ECO:0000269|PubMed:14566051, ECO:0000269|PubMed:16386793, ECO:0000269|PubMed:16621965, ECO:0000269|PubMed:20513133}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype. Patients with CD46 mutations seem to have an overall better prognosis compared to patients carrying CFH mutations.
Mutagenesis:
MUTAGEN 83 83 N->Q: No effect on cytoprotective function. No effect on Neisseria binding. No effect on Measles virus binding. {ECO:0000269|PubMed:11260136, ECO:0000269|PubMed:8764003, ECO:0000269|PubMed:9759896}.; MUTAGEN 114 114 N->Q: Strongly decreases cytoprotective function. Decreases Neisseria binding. Abolishes Measles virus binding. {ECO:0000269|PubMed:11260136, ECO:0000269|PubMed:8764003, ECO:0000269|PubMed:9759896}.; MUTAGEN 273 273 N->Q: Strongly decreases cytoprotective function. Abolishes Neisseria binding. No effect on Measles virus binding. {ECO:0000269|PubMed:11260136, ECO:0000269|PubMed:8764003, ECO:0000269|PubMed:9759896}.
Sequence:
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL
Function [CC]:
Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T-cells which induces the differentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore are thought to prevent autoimmunity. {ECO:0000269|PubMed:10843656, ECO:0000269|PubMed:12540904}.; (Microbial infection) A number of viral and bacterial pathogens seem to bind MCP in order to exploit its immune regulation property and directly induce an immunosuppressive phenotype in T-cells.; (Microbial infection) Acts as a receptor for Adenovirus subgroup B2 and Ad3. {ECO:0000269|PubMed:12915534, ECO:0000269|PubMed:14566335, ECO:0000269|PubMed:15047806, ECO:0000269|PubMed:15078926, ECO:0000269|PubMed:15919905, ECO:0000269|PubMed:16254377}.; (Microbial infection) Acts as a receptor for cultured Measles virus. {ECO:0000269|PubMed:10972291}.; (Microbial infection) Acts as a receptor for Herpesvirus 6/HHV-6. {ECO:0000269|PubMed:12663806, ECO:0000269|PubMed:12724329}.; (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes (PubMed:7708671, PubMed:9379894, PubMed:11260136, PubMed:11971006).
Analysis Summary:
Alternative sequence (11); Beta strand (27); Chain (1); Compositional bias (1); Disulfide bond (8); Domain (4); Glycosylation (21); Helix (2); Modified residue (7); Mutagenesis (3); Natural variant (13); Sequence conflict (4); Signal peptide (1); Topological domain (2); Transmembrane (1); Expressed by all cells except erythrocytes.
Reagent Data
Name:
Membrane cofactor protein (TLX) (Trophoblast leukocyte common antigen) (CD antigen CD46)
Subcategory:
Recombinant
Source:
HEK293
Species:
Format:
Lyophilized
pH:
7.4-7.5
Formulation:
Sterile-filtered colorless solution
Formulation Concentration:
1mg/ml
Buffer Volume:
Standard
Buffer Solution:
PBS
Metal Chelating Agents
Determined:
SDS-PAGE
Purity:
> 98%
Validated:
RP-HPLC
Sample Handling
Storage:
-20°C
Stability:
This bioreagent is stable at 4°C (short-term) and -70°C(long-term). After reconstitution, sample may be stored at 4°C for 2-7 days and below -18°C for future use.
Preparation:
Reconstitute in sterile distilled H2O to no less than 100ug/ml; dilute reconstituted stock further in other aqueous solutions if needed. Please review COA for lot-specific instructions. Final measurements should be determined by the end-user for optimal performance.
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