InnateDB Protein
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IDBP-476155.4
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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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CTLA4
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Protein Name
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cytotoxic T-lymphocyte-associated protein 4
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Synonyms
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CD; CD152; CELIAC3; CTLA-4; GRD4; GSE; IDDM12;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000417779
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InnateDB Gene
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IDBG-79215 (CTLA4)
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Protein Structure
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Function |
Inhibitory receptor acting as a major negative regulator of T-cell responses. 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. {ECO:0000269PubMed:16551244, ECO:0000269PubMed:1714933}.
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Subcellular Localization |
Cell membrane {ECO:0000269PubMed:18468488}; Single-pass type I membrane protein {ECO:0000269PubMed:18468488}. Note=Exists primarily an intracellular antigen whose surface expression is tightly regulated by restricted trafficking to the cell surface and rapid internalisation;.
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Disease Associations |
Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269PubMed:15138458, ECO:0000269PubMed:15688186}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Note=Genetic variations in CTLA4 may influence susceptibility to Graves disease, an autoimmune disorder associated with overactivity of the thyroid gland and hyperthyroidism.Diabetes mellitus, insulin-dependent, 12 (IDDM12) [MIM:601388]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269PubMed:9259273}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Celiac disease 3 (CELIAC3) [MIM:609755]: A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten- containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. {ECO:0000269PubMed:10189842, ECO:0000269PubMed:15657618}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed with highest levels in lymphoid tissues. Detected in activated T-cells where expression levels are 30- to 50-fold less than CD28, the stimulatory coreceptor, on the cell surface following activation. {ECO:0000269PubMed:10493833, ECO:0000269PubMed:16551244, ECO:0000269PubMed:1713603}.
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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 26 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated |
Total |
26
[view]
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Protein-Protein |
25
[view]
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Protein-DNA |
0
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Protein-RNA |
1
[view]
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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 |
IPR008096
Cytotoxic T-lymphocyte antigen 4
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PFAM |
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PRINTS |
PR01720
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P16410
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PhosphoSite |
PhosphoSite-P16410
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TrEMBL |
Q0Q5F1
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UniProt Splice Variant |
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Entrez Gene |
1493
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UniGene |
Hs.247824
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RefSeq |
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HUGO |
HGNC:2505
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OMIM |
123890
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CCDS |
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HPRD |
00474
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IMGT |
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EMBL |
AC010138
AF142144
AF411058
AF414120
AH002733
AY792514
AY999702
BC074842
BC074893
DQ357942
DQ534199
DQ785106
HM545121
HM545124
HM545125
HM545126
L15006
M74363
U90273
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GenPept |
AAA52127
AAA52773
AAB59385
AAD00698
AAF02499
AAH74842
AAH74893
AAL07473
AAL40932
AAV66331
AAX93176
AAY00166
ABC67470
ABG78999
ABG85285
ADV60197
ADV60198
ADV60199
ADV60200
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