InnateDB Protein
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IDBP-73619.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CD3E
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Protein Name
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CD3e molecule, epsilon (CD3-TCR complex)
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Synonyms
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IMD18; T3E; TCRE;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000354566
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InnateDB Gene
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IDBG-73617 (CD3E)
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Protein Structure
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Function |
The CD3 complex mediates signal transduction.
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Subcellular Localization |
Membrane; Single-pass type I membrane protein.
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Disease Associations |
Immunodeficiency 18 (IMD18) [MIM:615615]: An autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell- positive, natural killer (NK) cell-positive phenotype, whereas T- cell development is not impaired in the mild form of IMD18. {ECO:0000269PubMed:15546002, ECO:0000269PubMed:8490660}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated |
Total |
39
[view]
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Protein-Protein |
39
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
4 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003110
Phosphorylated immunoreceptor signalling ITAM
IPR003598
Immunoglobulin subtype 2
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PFAM |
PF02189
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PRINTS |
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PIRSF |
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SMART |
SM00077
SM00408
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TIGRFAMs |
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Modification |
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SwissProt |
P07766
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PhosphoSite |
PhosphoSite-P07766
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TrEMBL |
A0N2Z5
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UniProt Splice Variant |
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Entrez Gene |
916
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UniGene |
Hs.692065
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RefSeq |
NP_000724
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HUGO |
HGNC:1674
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OMIM |
186830
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CCDS |
CCDS31685
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HPRD |
08923
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IMGT |
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EMBL |
AK292612
BC049847
CH471065
L34846
M22057
M23317
M23318
M23319
M23320
M23321
M23322
M23323
X03884
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GenPept |
AAA52295
AAA61062
AAH49847
BAF85301
CAA27516
EAW67364
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