CTLA4
entrez
1493
canonical
uniprot
P16410
canonical
ensembl
ENSG00000163599
resolver
ensp
ENSP00000295854
resolver
ensp
ENSP00000497102
resolver
genesymbol
CTLA4
resolver
genesymbol_syn
CD152
resolver
hgnc
HGNC:2505
resolver
uniprot
A0N1S0
resolver
uniprot
E9PDH0
resolver
uniprot
O95653
resolver
uniprot
Q0PP65
resolver
uniprot
Q52MC1
resolver
uniprot
Q53TD5
resolver
uniprot
Q5S005
resolver
uniprot
Q8WXJ1
resolver
uniprot
Q96P43
resolver
uniprot
Q9UKN9
resolver
uniprot_entry
CTLA4_HUMAN
resolver
uniprot_sec
A0N1S0
resolver
uniprot_sec
E9PDH0
resolver
uniprot_sec
O95653
resolver
uniprot_sec
Q0PP65
resolver
uniprot_sec
Q52MC1
resolver
uniprot_sec
Q53TD5
resolver
uniprot_sec
Q5S005
resolver
uniprot_sec
Q8WXJ1
resolver
uniprot_sec
Q96P43
resolver
uniprot_sec
Q9UKN9
resolver
amino_acid_sequence
MACLGFQRHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEYASPGKATEVRVTVLRQADSQVTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLRAMDTGLYICKVELMYPPPYYLGIGNGTQIYVIDPEPCPDSDFLLWILAAVSSGLFFYSFLLTAVSLSKMLKKRSPLTTGVYVKMPPTEPECEKQFQPYFIPIN
uniprot
proteins
disease_involvement
DISEASE: Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation (IDAIL) [MIM:616100]: An autosomal dominant primary immunodeficiency characterized by severe autoimmunity, infiltration of non-lymphoid organs, such as the intestine, lungs and brain, by hyperactive T cells and B cells, autoimmune cytopenias, and hypogammaglobulinemia in early childhood. {ECO:0000269|PubMed:25213377, ECO:0000269|PubMed:25329329}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Inhibitory receptor acting as a major negative regulator of T-cell responses (PubMed:11279501, PubMed:11279502, PubMed:16551244, PubMed:1714933, PubMed:18641304, PubMed:28484017). Acts as a decoy receptor: the affinity of CTLA4 for its natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory coreceptor CD28 (PubMed:11279501, PubMed:11279502, PubMed:16551244, PubMed:1714933, PubMed:28484017). {ECO:0000269|PubMed:11279501, ECO:0000269|PubMed:11279502, ECO:0000269|PubMed:1714933, ECO:0000269|PubMed:18641304, ECO:0000269|PubMed:28484017, ECO:0000303|PubMed:16551244}.
uniprot
proteins
mass_dalton
24656
uniprot
proteins
mutagenesis
MUTAGEN 45; /note="V->D: Strongly reduced interaction with CD80, CD86 and ICOSLG."; /evidence="ECO:0000269|PubMed:28484017"; MUTAGEN 47; /note="L->D: Strongly reduced interaction with CD80, CD86 and ICOSLG."; /evidence="ECO:0000269|PubMed:28484017"; MUTAGEN 49; /note="S->A: Strongly reduced interaction with CD80, CD86 and ICOSLG."; /evidence="ECO:0000269|PubMed:28484017"; MUTAGEN 70; /note="R->A,D: Strongly reduced interaction with CD80, CD86 and ICOSLG."; /evidence="ECO:0000269|PubMed:28484017"; MUTAGEN 130; /note="K->A,D: Strongly reduced interaction with CD80, CD86 and ICOSLG."; /evidence="ECO:0000269|PubMed:28484017"; MUTAGEN 132; /note="E->A,R: Strongly reduced interaction with CD80, CD86 and ICOSLG."; /evidence="ECO:0000269|PubMed:28484017"; MUTAGEN 139; /note="Y->A,D: Strongly reduced interaction with CD80, CD86 and ICOSLG."; /evidence="ECO:0000269|PubMed:28484017"; MUTAGEN 143; /note="I->A,D: Strongly reduced interaction with CD80, CD86 and ICOSLG."; /evidence="ECO:0000269|PubMed:28484017
uniprot
proteins
post_translational_modification
PTM: N-glycosylation is important for dimerization. {ECO:0000269|PubMed:11279502, ECO:0000269|PubMed:16002699, ECO:0000269|PubMed:21156796}.; PTM: Phosphorylation at Tyr-201 prevents binding to the AP-2 adapter complex, blocks endocytosis, and leads to retention of CTLA4 on the cell surface. {ECO:0000269|PubMed:10842319, ECO:0000269|PubMed:9175836, ECO:0000269|PubMed:9813138}.
uniprot
proteins
pubmed
10189842
uniprot
proteins
pubmed
10475192
uniprot
proteins
pubmed
10493833
uniprot
proteins
pubmed
10842319
uniprot
proteins
pubmed
10903931
uniprot
proteins
pubmed
10924276
uniprot
proteins
pubmed
11279501
uniprot
proteins
pubmed
11279502
uniprot
proteins
pubmed
11735222
uniprot
proteins
pubmed
12724780
uniprot
proteins
pubmed
15138458
uniprot
proteins
pubmed
15452244
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15657618
uniprot
proteins
pubmed
15688186
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16002699
uniprot
proteins
pubmed
16551244
uniprot
proteins
pubmed
1713603
uniprot
proteins
pubmed
1714933
uniprot
proteins
pubmed
18468488
uniprot
proteins
pubmed
18595775
uniprot
proteins
pubmed
18641304
uniprot
proteins
pubmed
19426230
uniprot
proteins
pubmed
21156796
uniprot
proteins
pubmed
25213377
uniprot
proteins
pubmed
25329329
uniprot
proteins
pubmed
28484017
uniprot
proteins
pubmed
3220103
uniprot
proteins
pubmed
9175836
uniprot
proteins
pubmed
9228944
uniprot
proteins
pubmed
9259273
uniprot
proteins
pubmed
9813138
uniprot
proteins
sequence_length
223
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18468488, ECO:0000269|PubMed:18641304, ECO:0000269|PubMed:28484017}; Single-pass type I membrane protein {ECO:0000269|PubMed:18468488, ECO:0000269|PubMed:28484017}. Note=Exists primarily an intracellular antigen whose surface expression is tightly regulated by restricted trafficking to the cell surface and rapid internalization. {ECO:0000269|PubMed:18468488}.
uniprot
proteins
transmembrane_region
TRANSMEM 162..182; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins