|CTLA4_HUMAN » Cytotoxic T-lymphocyte protein 4 » Cytotoxic T-lymphocyte-associated antigen 4;CTLA-4;|
|Hydrophobic Thickness||41.6 ± 1.4 Å|
|Tilt Angle||2 ± 2°|
|Links||UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC|
|TM Segments||162-184 (160-193)|
Autoimmune thyroid disease (KEGG)
Cell adhesion molecules (KEGG)
Immune System (Reactome)
Rheumatoid arthritis (KEGG)
|PDB||1ah1 (37-161), 3osk (A/B=36-161), 1i85 (C/D=36-161), 1i8l (C/D=36-161), 3bx7 (C=38-161), 2x44 (D=36-161), 1h6e (P=197-207)|
|UniProt annotation for CTLA4_HUMAN » Cytotoxic T-lymphocyte protein 4|
|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. SUBUNIT: Homodimer; disulfide-linked. Binds to CD80/B7-1 and CD86/B7.2. 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. DISEASE: Systemic lupus erythematosus (SLE) OMIM: 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. associated with variations affecting the gene represented in this entry. DISEASE: Note=Genetic variations in CTLA4 may influence susceptibility to Graves disease, an autoimmune disorder associated with overactivity of the thyroid gland and hyperthyroidism. DISEASE: Diabetes mellitus, insulin-dependent, 12 (IDDM12) OMIM: 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. susceptibility is associated with variations affecting the gene represented in this entry. DISEASE: Celiac disease 3 (CELIAC3) OMIM: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. DISEASE: Autoimmune lymphoproliferative syndrome 5 (ALPS5) OMIM: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.|
|UniProt features for CTLA4_HUMAN » Cytotoxic T-lymphocyte protein 4|
SIGNAL 1 35 Potential. |
CHAIN 36 223 Cytotoxic T-lymphocyte protein 4.
DOMAIN 39 140 Ig-like V-type.
REGION 46 50 Homodimerization.
REGION 150 155 Homodimerization.
DISULFID 58 129
DISULFID 85 103
DISULFID 157 157 Interchain.
|Amino Acid Sequence for CTLA4_HUMAN » Cytotoxic T-lymphocyte protein 4|
|MACLGFQRHK AQLNLATRTW PCTLLFFLLF IPVFCKAMHV AQPAVVLASS RGIASFVCEY ASPGKATEVR VTVLRQADSQ VTEVCAATYM MGNELTFLDD SICTGTSSGN QVNLTIQGLR AMDTGLYICK VELMYPPPYY LGIGNGTQIY VIDPEPCPDS DFLLWILAAV SSGLFFYSFL LTAVSLSKML KKRSPLTTGV YVKMPPTEPE CEKQFQPYFI PIN|