Homo sapiens Protein: CTLA4 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-79217.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | CTLA4 | ||||||||||||||||||||||
Protein Name | cytotoxic T-lymphocyte-associated protein 4 | ||||||||||||||||||||||
Synonyms | CD; CD152; CELIAC3; CTLA-4; GRD4; GSE; IDDM12; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000303939 | ||||||||||||||||||||||
InnateDB Gene | IDBG-79215 (CTLA4) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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}. | ||||||||||||||||||||||
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;. | ||||||||||||||||||||||
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. | ||||||||||||||||||||||
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}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR003596
Immunoglobulin V-set, subgroup IPR003599 Immunoglobulin subtype IPR008096 Cytotoxic T-lymphocyte antigen 4 IPR013106 Immunoglobulin V-set domain |
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PFAM |
PF07686
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PRINTS |
PR01720
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PIRSF | |||||||||||||||||||||||
SMART |
SM00406
SM00409 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | P16410 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-P16410 | ||||||||||||||||||||||
TrEMBL | Q9BZK2 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 1493 | ||||||||||||||||||||||
UniGene | Hs.247824 | ||||||||||||||||||||||
RefSeq | NP_005205 | ||||||||||||||||||||||
HUGO | HGNC:2505 | ||||||||||||||||||||||
OMIM | 123890 | ||||||||||||||||||||||
CCDS | CCDS2362 | ||||||||||||||||||||||
HPRD | 00474 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC010138 AF142144 AF316875 AF411058 AF414120 AF486806 AH002733 AY792514 AY999702 BC074842 BC074893 DQ357942 DQ534199 DQ785106 HM545121 HM545124 HM545125 HM545126 L15006 M74363 U90273 | ||||||||||||||||||||||
GenPept | AAA52127 AAA52773 AAB59385 AAD00698 AAF02499 AAH74842 AAH74893 AAK13084 AAL07473 AAL40932 AAL96664 AAV66331 AAX93176 AAY00166 ABC67470 ABG78999 ABG85285 ADV60197 ADV60198 ADV60199 ADV60200 | ||||||||||||||||||||||