InnateDB Protein
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IDBP-104549.6
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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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CD247
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Protein Name
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CD247 molecule
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Synonyms
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CD3-ZETA; CD3H; CD3Q; CD3Z; IMD25; T3Z; TCRZ;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000354782
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InnateDB Gene
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IDBG-104547 (CD247)
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Protein Structure
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Function |
Probable role in assembly and expression of the TCR complex as well as signal transduction upon antigen triggering.
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Subcellular Localization |
Membrane; Single-pass type I membrane protein.
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Disease Associations |
Immunodeficiency due to defect in CD3-zeta (CD3ZID) [MIM:610163]: An immunological deficiency characterized by T-cells impaired immune response to alloantigens, tetanus toxoid and mitogens. {ECO:0000269PubMed:16672702}. 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 42 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated |
Total |
42
[view]
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Protein-Protein |
42
[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
IPR021663
T-cell surface glycoprotein CD3 zeta/eta subunit/High affinity IgE receptor gamma subunit
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PFAM |
PF02189
PF11628
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PRINTS |
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PIRSF |
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SMART |
SM00077
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TIGRFAMs |
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Modification |
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SwissProt |
P20963
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PhosphoSite |
PhosphoSite-P20963
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TrEMBL |
H6QVQ5
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UniProt Splice Variant |
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Entrez Gene |
919
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UniGene |
Hs.669326
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RefSeq |
NP_932170
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HUGO |
HGNC:1677
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OMIM |
186780
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CCDS |
CCDS1261
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HPRD |
01729
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IMGT |
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EMBL |
AK313946
AL031733
AL359962
BC025703
CH471067
DQ072717
EF364119
EU117371
EU117372
EU117373
J04132
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GenPept |
AAA60394
AAH25703
AAY57330
ABQ28690
ABW06577
ABW06578
ABW06579
BAG36664
CAH69974
CAH69975
CAI21380
CAI21381
EAW90792
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