IC1_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
SERPING1
, C1IN, C1NH
Protein names and data:
IC1_HUMAN
, Plasma protease C1 inhibitor; C1 Inh; C1Inh
, C1 esterase inhibitor; C1-inhibiting factor; Serpin G1; Flags: Precursor
Lenght: 500 a.a.
Mass: 55154 Da
fasta formatted sequence
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.
Disease:
( OMIM:
106100
606860
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Secreted.
Genetic variants
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.
39 - 39
D -> E (in dbSNP:rs11229062). VAR_027374
11229062
56 - 56
V -> A (in dbSNP:rs11546660). VAR_027375
11546660
84 - 138
Missing (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_046202
118 - 118
T -> A (in HAE; dbSNP:rs200534715). VAR_068832
200534715
130 - 130
C -> Y (in HAE; phenotype consistent with hereditary angioedema type 1). VAR_027379
154 - 154
Y -> C (in HAE; dbSNP:rs281875168). VAR_068833
281875168
170 - 170
S -> F (in HAE; dbSNP:rs281875169). VAR_068834
281875169
184 - 184
G -> R (in HAE; dbSNP:rs281875170). VAR_068835
281875170
230 - 230
L -> P (in HAE; dbSNP:rs281875171). VAR_068836
281875171
232 - 232
I -> K (in HAE; dbSNP:rs281875172). VAR_068837
281875172
272 - 272
Missing (in HAE). VAR_068838
273 - 273
Missing (in HAE; phenotype consistent with hereditary angioedema type 2; creates a new glycosylation site). VAR_007012
299 - 299
W -> R (in HAE; dbSNP:rs281875173). VAR_068839
281875173
308 - 308
T -> S (in dbSNP:rs1803212). VAR_011751
1803212
345 - 345
G -> R (in HAE; phenotype consistent with hereditary angioedema type 1). VAR_027376
394 - 394
T -> P (in HAE; phenotype consistent with hereditary angioedema type 1). VAR_027380
408 - 408
D -> V (in HAE; phenotype consistent with hereditary angioedema type 1). VAR_027381
429 - 429
G -> R (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_007013
430 - 430
L -> Q (in HAE; dbSNP:rs281875174). VAR_068840
281875174
441 - 441
M -> T (in HAE; dbSNP:rs281875175). VAR_068841
281875175
447 - 447
L -> P (in HAE; dbSNP:rs281875176). VAR_068842
281875176
454 - 454
V -> E (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_007014
456 - 456
A -> E (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_007015
458 - 458
A -> T (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_007016
458 - 458
A -> V (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_007017
465 - 465
A -> V (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_007018
466 - 466
R -> C (in HAE; phenotype consistent with hereditary angioedema type 2; dbSNP:rs28940870). VAR_007019
28940870
466 - 466
R -> H (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_007020
466 - 466
R -> L (in HAE; phenotype consistent with hereditary angioedema type 2; dbSNP:rs121907948). VAR_007021
121907948
466 - 466
R -> S (in HAE; phenotype consistent with hereditary angioedema type 2; dbSNP:rs28940870). VAR_007022
28940870
467 - 467
T -> P (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_007023
473 - 473
V -> E (in HAE; phenotype consistent with hereditary angioedema type 1). VAR_027382
473 - 473
V -> G (in HAE; dbSNP:rs281875177). VAR_068843
281875177
473 - 473
V -> M (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_007024
474 - 474
Q -> E. VAR_007025
477 - 477
F -> S (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_007026
480 - 480
V -> M (in dbSNP:rs4926). VAR_007027
4926
481 - 481
L -> P (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_007028
481 - 481
L -> R (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_007029
489 - 489
P -> R (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_007030
493 - 493
G -> E (in HAE; phenotype consistent with hereditary angioedema type 1). VAR_027383
497 - 497
D -> G (in HAE; dbSNP:rs281875178). VAR_068844
281875178
498 - 498
P -> R (in HAE; phenotype consistent with hereditary angioedema type 1). VAR_027384
498 - 498
P -> S (in HAE; phenotype consistent with hereditary angioedema type 2). VAR_007031
Database cross-references
UniProt:
P05155
Ensembl:
ENST00000278407
MIM:
106100
MIM:
606860
neXtProt:
NX_P05155
Antibodypedia:
P05155
(may not find the protein thus also not any antibody)
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