CD247
entrez
919
canonical
uniprot
P20963
canonical
ensembl
ENSG00000198821
resolver
ensp
ENSP00000354782
resolver
ensp
ENSP00000375969
resolver
ensp
ENSP00000514802
resolver
ensp
ENSP00000514803
resolver
enst
ENST00000700106
resolver
enst
ENST00000700107
resolver
genesymbol
CD247
resolver
genesymbol_syn
CD3Z
resolver
genesymbol_syn
T3Z
resolver
genesymbol_syn
TCRZ
resolver
hgnc
HGNC:1677
resolver
uniprot
A0A8V8TPP4
resolver
uniprot
A0A8V8TQM0
resolver
uniprot
B1AK49
resolver
uniprot
Q5VX13
resolver
uniprot
Q6KAV0
resolver
uniprot
Q8TAX4
resolver
uniprot_entry
A0A8V8TPP4_HUMAN
resolver
uniprot_entry
A0A8V8TQM0_HUMAN
resolver
uniprot_entry
CD3Z_HUMAN
resolver
uniprot_entry
Q6KAV0_HUMAN
resolver
uniprot_sec
B1AK49
resolver
uniprot_sec
Q5VX13
resolver
uniprot_sec
Q8TAX4
resolver
amino_acid_sequence
MKWKALFTAAILQAQLPITEAQSFGLLDPKLCYLLDGILFIYGVILTALFLRVKFSRSADAPAYQQGQNQLYNELNLGRREEYDVLDKRRGRDPEMGGKPQRRKNPQEGLYNELQKDKMAEAYSEIGMKGERRRGKGHDGLYQGLSTATKDTYDALHMQALPPR
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 25 (IMD25) [MIM:610163]: An immunological deficiency characterized by T-cells impaired immune response to alloantigens, tetanus toxoid and mitogens. {ECO:0000269|PubMed:16672702}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD247/CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:1384049, PubMed:1385158, PubMed:2470098, PubMed:7509083). CD247/CD3Z ITAMs phosphorylation creates multiple docking sites for the protein kinase ZAP70 leading to ZAP70 phosphorylation and its conversion into a catalytically active enzyme (PubMed:7509083). Plays an important role in intrathymic T-cell differentiation. Additionally, participates in the activity-dependent synapse formation of retinal ganglion cells (RGCs) in both the retina and dorsal lateral geniculate nucleus (dLGN) (By similarity). {ECO:0000250|UniProtKB:P24161, ECO:0000269|PubMed:1384049, ECO:0000269|PubMed:1385158, ECO:0000269|PubMed:16027224, ECO:0000269|PubMed:2470098, ECO:0000269|PubMed:28465009, ECO:0000269|PubMed:7509083}.
uniprot
proteins
mass_dalton
18696
uniprot
proteins
mutagenesis
MUTAGEN 36; /note="D->E,L,V: Decreases cell surface expression of IgGFc receptor complex."; /evidence="ECO:0000269|PubMed:1825220
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8. {ECO:0000269|PubMed:2470098}.
uniprot
proteins
protein_family
CD3Z/FCER1G family
uniprot
proteins
pubmed
10224289
uniprot
proteins
pubmed
10449770
uniprot
proteins
pubmed
11390434
uniprot
proteins
pubmed
11722641
uniprot
proteins
pubmed
11978774
uniprot
proteins
pubmed
12176041
uniprot
proteins
pubmed
12522270
uniprot
proteins
pubmed
1384049
uniprot
proteins
pubmed
1385158
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15144186
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
15684325
uniprot
proteins
pubmed
16027224
uniprot
proteins
pubmed
16051847
uniprot
proteins
pubmed
16672702
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17055436
uniprot
proteins
pubmed
1825220
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
23858057
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2470098
uniprot
proteins
pubmed
2532305
uniprot
proteins
pubmed
26783323
uniprot
proteins
pubmed
28465009
uniprot
proteins
pubmed
28652325
uniprot
proteins
pubmed
2974162
uniprot
proteins
pubmed
7509083
uniprot
proteins
pubmed
7544002
uniprot
proteins
pubmed
7659156
uniprot
proteins
pubmed
7680960
uniprot
proteins
pubmed
9484780
uniprot
proteins
pubmed
9811718
uniprot
proteins
sequence_length
164
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P24161}; Single-pass type I membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 31..51; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins