ANT3_HUMAN
Source: PM23856902Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: SERPINC1 , AT3 , PRO0309
Protein names and data: ANT3_HUMAN , Antithrombin-III; ATIII , Serpin C1; Flags: Precursor Lenght: 464 a.a.
Mass: 52602 Da
fasta formatted sequence
Function: Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin.
Disease: ( OMIM: 107300 613118 ) Antithrombin III deficiency (AT3D) [MIM:613118]: An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Secreted, extracellular space.
Tissue specificity: Found in plasma.
Genetic variants
17 - 17 Y -> S (in AT3D; type-I). VAR_02745023 - 23 L -> P (in AT3D; type-I; impairs cotranslational processing). VAR_012748
30 - 30 V -> E (in Dublin; dbSNP:rs2227624). VAR_007032 2227624
32 - 32 C -> R (in AT3D; type-I). VAR_027451
39 - 39 I -> N (in AT3D; type-II; Rouen-3; lack of heparin-binding properties; dbSNP:rs28929468). VAR_007033 28929468
52 - 52 M -> T (previously Whitechapel). VAR_007034
56 - 56 R -> C (in AT3D; type-II; Rouen-4; lack of heparin-binding properties; dbSNP:rs28929469). VAR_007035 28929469
73 - 73 P -> L (in AT3D; type-II; Basel/ Franconville/Clichy-1/Clichy-2/Dublin-2; lacks heparin-binding ability; dbSNP:rs121909551). VAR_007036 121909551
79 - 79 R -> C (in AT3D; Tours/Alger/Amiens/ Toyama/Paris-1/Paris-2/Padua-2/Barcelona- 2/Kumamoto/Omura/Sasebo; lacks heparin- binding ability). VAR_007037
79 - 79 R -> H (in AT3D; type-II; Rouen-1/Padua- 1/Bligny/Budapest-2; lack of heparin- binding properties; dbSNP:rs121909552). VAR_007038 121909552
79 - 79 R -> S (in AT3D; type-II; Rouen-2; lack of heparin-binding properties). VAR_007039
87 - 87 Missing (in AT3D; type-I). VAR_007040
89 - 89 R -> C (in AT3D; type-I; dbSNP:rs147266200). VAR_007041 147266200
90 - 90 F -> L (in AT3D; type-I; Budapest-6). VAR_007042
95 - 95 Y -> C (in AT3D; type-I). VAR_027452
95 - 95 Y -> S (in AT3D; type-I). VAR_012316
98 - 98 L -> P (in AT3D; type-I). VAR_027453
108 - 109 Missing (in AT3D; type-I). VAR_007043
112 - 112 P -> T (in AT3D; type-I). VAR_007044
121 - 121 M -> K (in AT3D; type-I). VAR_027454
127 - 127 C -> R (in AT3D; type-I). VAR_027455
131 - 131 L -> F (in AT3D; type-II; Budapest-3/ Budapest-7). VAR_007045
131 - 131 L -> V (in AT3D; type-II; Southport). VAR_007046
133 - 133 Q -> K (in AT3D; type I). VAR_007047
138 - 139 Missing (in AT3D; type-I). VAR_007048
146 - 146 K -> E (in AT3D; Dreux; complete loss af heparin binding). VAR_027456
147 - 147 T -> A (in dbSNP:rs2227606). VAR_013085 2227606
148 - 148 S -> P (in AT3D; type-II; Nagasaki; defective heparin binding associated with thrombosis). VAR_007049
150 - 150 Q -> P (in AT3D; type-II; Vienna). VAR_007050
152 - 154 Missing (in AT3D; type-I). VAR_012749
152 - 152 H -> Y (in AT3D; type-I). VAR_007051
153 - 153 Missing (in AT3D; type-I). VAR_007052
158 - 158 L -> P (in AT3D; type-I). VAR_007053
160 - 160 C -> Y (in AT3D; type-I). VAR_027457
161 - 161 R -> Q (in AT3D; type-II; Geneva). VAR_007054
167 - 167 N -> T. VAR_012750
178 - 178 L -> H (in AT3D; type-I). VAR_027458
179 - 179 F -> L (in AT3D; type-I). VAR_027459
190 - 190 Y -> C (polymorphism in population of Scandinavian origin). VAR_007055
198 - 198 Y -> C (in AT3D; type-I and -II; Whitechapel). VAR_007056
198 - 198 Y -> H (in AT3D; type-I). VAR_027460
214 - 214 S -> F (in AT3D; type-I). VAR_027461
214 - 214 S -> Y (in AT3D; type-I). VAR_007057
218 - 218 Missing (in AT3D; type-I). VAR_027462
219 - 219 N -> D (in AT3D; type-II; Rouen-6; increases affinity for heparin). VAR_007059
219 - 219 N -> K (in AT3D; type-II; Glasgow-3). VAR_007058
223 - 223 S -> P (in AT3D; type-I). VAR_027463
243 - 243 T -> I (in AT3D; type-I). VAR_027464
251 - 251 I -> T (in AT3D; type-I). VAR_027465
257 - 257 W -> R (in AT3D; type-I). VAR_027466
261 - 261 F -> L (in AT3D). VAR_027467
269 - 269 E -> K (in AT3D; type-II; Truro, increases affinity for heparin). VAR_007060
273 - 307 Missing (in AT3D; type-I). VAR_007061
283 - 283 M -> I (in AT3D; type-II). VAR_007062
283 - 283 M -> V (in AT3D; type-II). VAR_027468
302 - 302 L -> P (in AT3D; type-I). VAR_007063
316 - 316 I -> N (in AT3D; type-II; Haslar/ Whitechapel). VAR_007064
323 - 323 S -> P (in AT3D). VAR_027469
334 - 334 E -> K (in AT3D; type-II). VAR_007065
344 - 344 Missing (in AT3D; type-I). VAR_007066
381 - 381 S -> P (in AT3D; type-I). VAR_007067
391 - 391 R -> Q. VAR_007068
397 - 397 S -> P (in AT3D; type-I). VAR_027470
398 - 398 D -> H (in AT3D; type-I). VAR_027471
412 - 412 S -> R (in AT3D; type-I). VAR_027472
414 - 414 A -> T (in AT3D; type-II; Hamilton/ Glasgow-2; reduces interaction with thrombin by 90%). VAR_007069
416 - 416 A -> P (in AT3D; type-II; Charleville/ Sudbury/Vicenza/Cambridge-1; dbSNP:rs28930978). VAR_007070 28930978
416 - 416 A -> S (in AT3D; type-II; Cambridge-2; dbSNP:rs121909548). VAR_007071 121909548
419 - 419 A -> V (in AT3D; type-I). VAR_007072
424 - 424 G -> D (in AT3D; type-II; Stockholm). VAR_007073
425 - 425 R -> C (in AT3D; type-II; Northwick-Park/ Milano-1/Frankfurt-1; deprived of inhibitory activity; dbSNP:rs121909554). VAR_007075 121909554
425 - 425 R -> H (in AT3D; type-II; Glasgow/ Sheffield/Chicago/Avranches/Kumamoto-2; increases affinity for heparin; deprived of inhibitory activity). VAR_007074
425 - 425 R -> P (in AT3D; type-II; Pescara; deprived of inhibitory of activity). VAR_007076
426 - 426 S -> L (in AT3D; type-II; Denver/Milano- 2; deprived of inhibitory activity). VAR_007077
434 - 434 F -> C (in AT3D; type-II; Rosny). VAR_007078
434 - 434 F -> L (in AT3D; type-II; Maisons- Laffite). VAR_007080
434 - 434 F -> S (in AT3D; type-II; Torino). VAR_007079
436 - 436 A -> T (in AT3D; type-II; Oslo/Paris-3). VAR_007081
437 - 437 N -> K (in AT3D; type-II; La Rochelle). VAR_007082
438 - 438 R -> G (in AT3D; type-II). VAR_009258
438 - 438 R -> M (in AT3D; type-II; Kyoto). VAR_007083
439 - 439 P -> L (in AT3D; type-II; Utah; deprived of inhibitory activity). VAR_007084
439 - 439 P -> T (in AT3D; type-II; Budapest-5). VAR_007085
441 - 441 L -> P (in AT3D; type-II). VAR_027473
453 - 453 I -> T (in AT3D; type-I). VAR_007086
456 - 456 G -> R (in AT3D; type-I). VAR_007087
457 - 457 R -> T (in AT3D; type-II). VAR_007088
459 - 461 Missing (in AT3D; type-I). VAR_007089
459 - 459 A -> D (in AT3D; type-I). VAR_007090
461 - 461 P -> L (in AT3D; type-II; Budapest). VAR_007091
462 - 462 C -> F (in AT3D; type-I). VAR_007092
Database cross-references
UniProt: P01008Ensembl: ENST00000367698
MIM: 107300
MIM: 613118
neXtProt: NX_P01008
Antibodypedia: P01008 (may not find the protein thus also not any antibody)
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