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P05155 Proteins with OtherRepeats Repeats

Uniprot ID: P05155	Protein name : Plasma protease C1 inhibitor	Gene : SERPING1 C1IN C1NH
Protein Families : Serpin family	Squence Length : 500

Sequence	>P05155 501 MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPVFMGRVYDPRA
Repeat regions	REPEAT 85 88 1 REPEAT 89 92 2 REPEAT 93 96 3 REPEAT 97 100 4 REPEAT 101 104 5 REPEAT 105 108 6 REPEAT 116 119 7
Sequence region of repeats	85- 88 TTQP 89- 92 TTEP 93- 96 TTQP 97- 100 TIQP 101- 104 TQPT 105- 108 TQLP 116- 119 TTGS
Function	"Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein"
Mutation
Disease	"DISEASE: Hereditary angioedema (HAE) [MIM:106100]: An autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia Hereditary angioedema due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional 41} Note=The disease is caused by mutations affecting the gene represented in this entry"