InnateDB Protein
|
IDBP-106390.7
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
CD46
|
Protein Name
|
CD46 molecule, complement regulatory protein
|
Synonyms
|
AHUS2; MCP; MIC10; TLX; TRA2.10;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000314664
|
InnateDB Gene
|
IDBG-106372 (CD46)
|
Protein Structure
|
|
Function |
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. A number of viral and bacterial pathogens seem to exploit this property and directly induce an immunosuppressive phenotype in T-cells by binding to CD46. {ECO:0000269PubMed:10843656, ECO:0000269PubMed:12540904}.
|
Subcellular Localization |
Cytoplasmic vesicle, secretory vesicle, acrosome inner membrane {ECO:0000269PubMed:12112588, ECO:0000269PubMed:14597734, ECO:0000269PubMed:15307194}; Single- pass type I membrane protein {ECO:0000269PubMed:12112588, ECO:0000269PubMed:14597734, ECO:0000269PubMed:15307194}. Note=Inner acrosomal membrane of spermatozoa. Internalized upon binding of Measles virus, Herpesvirus 6 or Neisseria gonorrhoeae, which results in an increased susceptibility of infected cells to complement-mediated injury. In cancer cells or cells infected by Neisseria, shedding leads to a soluble peptide.
|
Disease Associations |
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:0000269PubMed:16386793, ECO:0000269PubMed:16621965, ECO:0000269PubMed: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.
|
Tissue Specificity |
Expressed by all cells except erythrocytes.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
25
[view]
|
Protein-Protein |
23
[view]
|
Protein-DNA |
2
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR000436
Sushi/SCR/CCP
IPR017341
Membrane cofactor protein, CD46
|
PFAM |
PF00084
|
PRINTS |
|
PIRSF |
PIRSF037971
|
SMART |
SM00032
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P15529
|
PhosphoSite |
PhosphoSite-P15529
|
TrEMBL |
Q06C42
|
UniProt Splice Variant |
|
Entrez Gene |
4179
|
UniGene |
Hs.510402
|
RefSeq |
NP_758860
|
HUGO |
HGNC:6953
|
OMIM |
120920
|
CCDS |
CCDS1479
|
HPRD |
00406
|
IMGT |
|
EMBL |
AF209712
AF209713
AF209714
AK222822
AK291227
AL035209
AL365178
AY916779
BC030594
BX537451
BX640613
BX649050
CH471100
D84105
DQ912494
EF076055
EF076056
EF076057
EF076058
M58050
S51940
S65879
X59405
X59406
X59407
X59408
X59409
X59410
Y00651
|
GenPept |
AAA62833
AAB24802
AAD13968
AAF73844
AAF73845
AAF73846
AAH30594
AAW82433
ABI96986
ABK81635
ABK81636
ABK81637
ABK81638
BAA12224
BAD96542
BAF83916
CAA68675
CAD97694
CAE45719
CAH73947
CAH73948
CAH73949
CAH73950
CAH73951
CAH73952
CAH73953
CAH73954
CAI18804
CAI18805
CAI18806
CAI18807
CAI18808
CAI18809
CAI18810
CAI18811
CAI45983
EAW93465
EAW93470
EAW93476
|
|
|