| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
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. SUBUNIT: Binds to E.coli stcE which allows localization of SERPING1 to cell membranes thus protecting the bacteria against complement-mediated lysis. Interacts with MASP1. SUBCELLULAR LOCATION: Secreted. PTM: Highly glycosylated (49%) with N- and O-glycosylation. O- glycosylated with core 1 or possibly core 8 glycans. N-glycan heterogeneity at Asn-25: Hex5HexNAc4 (minor), dHex1Hex5HexNAc4 (minor), Hex6HexNAc5 (major) and dHex1Hex6HexNAc5 (minor). PTM: Can be proteolytically cleaved by E.coli stcE. POLYMORPHISM: Chymotrypsin uses Ala-465 as its reactive site in normal plasma protease C1 inhibitor, and His-466 as its reactive site in the variant His-466. DISEASE: Defects in SERPING1 are the cause of hereditary angioedema (HAE) [MIM:106100]; also called hereditary angioneurotic edema (HANE). HAE is an autosomal dominant disorder characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts. HAE due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In HAE type 1, representing 85% of patients, serum levels of C1 esterase inhibitor are less than 35% of normal. In HAE type 2, the levels are normal or elevated, but the protein is non-functional. SIMILARITY: Belongs to the serpin family. SEQUENCE CAUTION: Sequence=AAA53096.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=Wikipedia; Note=C1-inhibitor entry; URL="http://en.wikipedia.org/wiki/C1-inhibitor"; WEB RESOURCE: Name=SERPING1base; Note=SERPING1 mutation db; URL="http://bioinf.uta.fi/SERPING1base/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SERPING1"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/serping1/"; GENE SYNONYMS:SERPING1 C1IN C1NH. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 500 AA; 55154 MW; 8B5E874833EA6C05 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:1228,
urn:biopax:RelationshipXref:NCBI GENE_710,
urn:biopax:RelationshipXref:REFSEQ_NP_000053,
urn:biopax:RelationshipXref:REFSEQ_NP_001027466,
urn:biopax:UnificationXref:UNIPROT_A6NMU0,
urn:biopax:UnificationXref:UNIPROT_A8KAI9,
urn:biopax:UnificationXref:UNIPROT_B2R6L5,
urn:biopax:UnificationXref:UNIPROT_P05155,
urn:biopax:UnificationXref:UNIPROT_Q16304,
urn:biopax:UnificationXref:UNIPROT_Q547W3,
urn:biopax:UnificationXref:UNIPROT_Q59EI5,
urn:biopax:UnificationXref:UNIPROT_Q7Z455,
urn:biopax:UnificationXref:UNIPROT_Q96FE0,
urn:biopax:UnificationXref:UNIPROT_Q9UC49,
urn:biopax:UnificationXref:UNIPROT_Q9UCF9
|
| biopax3:displayName |
IC1_HUMAN
|
| biopax3:name |
C1 Inh,
C1 esterase inhibitor,
C1-inhibiting factor,
C1Inh,
SERPING1,
Serpin G1
|
| biopax3:organism | |
| biopax3:sequence |
MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPVFMGRVYDPRA
|
| biopax3:standardName |
Plasma protease C1 inhibitor
|