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P01008

- ANT3_HUMAN

UniProt

P01008 - ANT3_HUMAN

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Protein

Antithrombin-III

Gene
SERPINC1, AT3, PRO0309
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei81 – 811Heparin
Binding sitei161 – 1611Heparin
Binding sitei177 – 1771Heparin
Sitei425 – 4262Reactive bond

GO - Molecular functioni

  1. heparin binding Source: UniProtKB-KW
  2. protease binding Source: UniProtKB
  3. protein binding Source: UniProtKB
  4. serine-type endopeptidase inhibitor activity Source: UniProtKB

GO - Biological processi

  1. blood coagulation Source: Reactome
  2. negative regulation of endopeptidase activity Source: RefGenome
  3. negative regulation of inflammatory response Source: Ensembl
  4. regulation of blood coagulation, intrinsic pathway Source: InterPro
  5. regulation of proteolysis Source: RefGenome
  6. response to nutrient Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Protease inhibitor, Serine protease inhibitor

Keywords - Biological processi

Blood coagulation, Hemostasis

Keywords - Ligandi

Heparin-binding

Enzyme and pathway databases

ReactomeiREACT_1439. Common Pathway.

Protein family/group databases

MEROPSiI04.018.

Names & Taxonomyi

Protein namesi
Recommended name:
Antithrombin-III
Short name:
ATIII
Alternative name(s):
Serpin C1
Gene namesi
Synonyms:AT3
ORF Names:PRO0309
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:775. SERPINC1.

Subcellular locationi

GO - Cellular componenti

  1. blood microparticle Source: UniProt
  2. extracellular region Source: UniProtKB
  3. extracellular space Source: BHF-UCL
  4. extracellular vesicular exosome Source: UniProt
  5. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

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.37 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171Y → S in AT3D; type-I. 1 Publication
VAR_027450
Natural varianti23 – 231L → P in AT3D; type-I; does not undergo post-translational glycosylation. 2 Publications
VAR_012748
Natural varianti32 – 321C → R in AT3D; type-I. 1 Publication
VAR_027451
Natural varianti39 – 391I → N in AT3D; type-II; Rouen-3; lack of heparin-binding properties. 1 Publication
Corresponds to variant rs28929468 [ dbSNP | Ensembl ].
VAR_007033
Natural varianti56 – 561R → C in AT3D; type-II; Rouen-4; lack of heparin-binding properties. 2 Publications
Corresponds to variant rs28929469 [ dbSNP | Ensembl ].
VAR_007035
Natural varianti73 – 731P → L in AT3D; type-II; Basel/Franconville/Clichy-1/Clichy-2/Dublin-2; lacks heparin-binding ability. 3 Publications
Corresponds to variant rs121909551 [ dbSNP | Ensembl ].
VAR_007036
Natural varianti79 – 791R → C in AT3D; Tours/Alger/Amiens/Toyama/Paris-1/Paris-2/Padua-2/Barcelona-2/Kumamoto/Omura/Sasebo; lacks heparin-binding ability. 3 Publications
VAR_007037
Natural varianti79 – 791R → H in AT3D; type-II; Rouen-1/Padua-1/Bligny/Budapest-2; lack of heparin-binding properties. 2 Publications
Corresponds to variant rs121909552 [ dbSNP | Ensembl ].
VAR_007038
Natural varianti79 – 791R → S in AT3D; type-II; Rouen-2; lack of heparin-binding properties. 1 Publication
VAR_007039
Natural varianti87 – 871Missing in AT3D; type-I. 1 Publication
VAR_007040
Natural varianti89 – 891R → C in AT3D; type-I. 1 Publication
Corresponds to variant rs147266200 [ dbSNP | Ensembl ].
VAR_007041
Natural varianti90 – 901F → L in AT3D; type-I; Budapest-6. 1 Publication
VAR_007042
Natural varianti95 – 951Y → C in AT3D; type-I. 1 Publication
VAR_027452
Natural varianti95 – 951Y → S in AT3D; type-I. 2 Publications
VAR_012316
Natural varianti98 – 981L → P in AT3D; type-I. 1 Publication
VAR_027453
Natural varianti108 – 1092Missing in AT3D; type-I.
VAR_007043
Natural varianti112 – 1121P → T in AT3D; type-I. 2 Publications
VAR_007044
Natural varianti121 – 1211M → K in AT3D; type-I. 1 Publication
VAR_027454
Natural varianti127 – 1271C → R in AT3D; type-I. 1 Publication
VAR_027455
Natural varianti131 – 1311L → F in AT3D; type-II; Budapest-3/Budapest-7. 2 Publications
VAR_007045
Natural varianti131 – 1311L → V in AT3D; type-II; Southport. 2 Publications
VAR_007046
Natural varianti133 – 1331Q → K in AT3D; type I. 1 Publication
VAR_007047
Natural varianti138 – 1392Missing in AT3D; type-I.
VAR_007048
Natural varianti146 – 1461K → E in AT3D; Dreux; complete loss af heparin binding. 1 Publication
VAR_027456
Natural varianti148 – 1481S → P in AT3D; type-II; Nagasaki; defective heparin binding associated with thrombosis. 2 Publications
VAR_007049
Natural varianti150 – 1501Q → P in AT3D; type-II; Vienna. 2 Publications
VAR_007050
Natural varianti152 – 1543Missing in AT3D; type-I.
VAR_012749
Natural varianti152 – 1521H → Y in AT3D; type-I. 1 Publication
VAR_007051
Natural varianti153 – 1531Missing in AT3D; type-I.
VAR_007052
Natural varianti158 – 1581L → P in AT3D; type-I. 1 Publication
VAR_007053
Natural varianti160 – 1601C → Y in AT3D; type-I. 2 Publications
VAR_027457
Natural varianti161 – 1611R → Q in AT3D; type-II; Geneva. 2 Publications
VAR_007054
Natural varianti178 – 1781L → H in AT3D; type-I. 1 Publication
VAR_027458
Natural varianti179 – 1791F → L in AT3D; type-I. 1 Publication
VAR_027459
Natural varianti198 – 1981Y → C in AT3D; type-I and -II; Whitechapel. 1 Publication
VAR_007056
Natural varianti198 – 1981Y → H in AT3D; type-I. 2 Publications
VAR_027460
Natural varianti214 – 2141S → F in AT3D; type-I. 1 Publication
VAR_027461
Natural varianti214 – 2141S → Y in AT3D; type-I.
VAR_007057
Natural varianti218 – 2181Missing in AT3D; type-I. 1 Publication
VAR_027462
Natural varianti219 – 2191N → D in AT3D; type-II; Rouen-6; increases affinity for heparin. 2 Publications
VAR_007059
Natural varianti219 – 2191N → K in AT3D; type-II; Glasgow-3. 1 Publication
VAR_007058
Natural varianti223 – 2231S → P in AT3D; type-I. 2 Publications
VAR_027463
Natural varianti243 – 2431T → I in AT3D; type-I. 1 Publication
VAR_027464
Natural varianti251 – 2511I → T in AT3D; type-I. 1 Publication
VAR_027465
Natural varianti257 – 2571W → R in AT3D; type-I. 2 Publications
VAR_027466
Natural varianti261 – 2611F → L in AT3D. 1 Publication
VAR_027467
Natural varianti269 – 2691E → K in AT3D; type-II; Truro, increases affinity for heparin. 1 Publication
VAR_007060
Natural varianti273 – 30735Missing in AT3D; type-I.
VAR_007061Add
BLAST
Natural varianti283 – 2831M → I in AT3D; type-II. 2 Publications
VAR_007062
Natural varianti283 – 2831M → V in AT3D; type-II. 1 Publication
VAR_027468
Natural varianti302 – 3021L → P in AT3D; type-I.
VAR_007063
Natural varianti316 – 3161I → N in AT3D; type-II; Haslar/Whitechapel. 1 Publication
VAR_007064
Natural varianti323 – 3231S → P in AT3D.
VAR_027469
Natural varianti334 – 3341E → K in AT3D; type-II. 1 Publication
VAR_007065
Natural varianti344 – 3441Missing in AT3D; type-I.
VAR_007066
Natural varianti381 – 3811S → P in AT3D; type-I.
VAR_007067
Natural varianti397 – 3971S → P in AT3D; type-I. 1 Publication
VAR_027470
Natural varianti398 – 3981D → H in AT3D; type-I. 1 Publication
VAR_027471
Natural varianti412 – 4121S → R in AT3D; type-I. 2 Publications
VAR_027472
Natural varianti414 – 4141A → T in AT3D; type-II; Hamilton/Glasgow-2; reduces interaction with thrombin by 90%. 4 Publications
VAR_007069
Natural varianti416 – 4161A → P in AT3D; type-II; Charleville/Sudbury/Vicenza/Cambridge-1. 1 Publication
Corresponds to variant rs28930978 [ dbSNP | Ensembl ].
VAR_007070
Natural varianti416 – 4161A → S in AT3D; type-II; Cambridge-2. 2 Publications
Corresponds to variant rs121909548 [ dbSNP | Ensembl ].
VAR_007071
Natural varianti419 – 4191A → V in AT3D; type-I. 1 Publication
VAR_007072
Natural varianti424 – 4241G → D in AT3D; type-II; Stockholm. 2 Publications
VAR_007073
Natural varianti425 – 4251R → C in AT3D; type-II; Northwick-Park/Milano-1/Frankfurt-1; deprived of inhibitory activity. 4 Publications
Corresponds to variant rs121909554 [ dbSNP | Ensembl ].
VAR_007075
Natural varianti425 – 4251R → H in AT3D; type-II; Glasgow/Sheffield/Chicago/Avranches/Kumamoto-2; increases affinity for heparin; deprived of inhibitory activity. 5 Publications
VAR_007074
Natural varianti425 – 4251R → P in AT3D; type-II; Pescara; deprived of inhibitory of activity. 1 Publication
VAR_007076
Natural varianti426 – 4261S → L in AT3D; type-II; Denver/Milano-2; deprived of inhibitory activity. 3 Publications
VAR_007077
Natural varianti434 – 4341F → C in AT3D; type-II; Rosny. 1 Publication
VAR_007078
Natural varianti434 – 4341F → L in AT3D; type-II; Maisons-Laffite. 1 Publication
VAR_007080
Natural varianti434 – 4341F → S in AT3D; type-II; Torino. 1 Publication
VAR_007079
Natural varianti436 – 4361A → T in AT3D; type-II; Oslo/Paris-3. 1 Publication
VAR_007081
Natural varianti437 – 4371N → K in AT3D; type-II; La Rochelle. 1 Publication
VAR_007082
Natural varianti438 – 4381R → G in AT3D; type-II. 1 Publication
VAR_009258
Natural varianti438 – 4381R → M in AT3D; type-II; Kyoto. 2 Publications
VAR_007083
Natural varianti439 – 4391P → L in AT3D; type-II; Utah; deprived of inhibitory activity. 2 Publications
VAR_007084
Natural varianti439 – 4391P → T in AT3D; type-II; Budapest-5. 1 Publication
VAR_007085
Natural varianti441 – 4411L → P in AT3D; type-II. 1 Publication
VAR_027473
Natural varianti453 – 4531I → T in AT3D; type-I. 2 Publications
VAR_007086
Natural varianti456 – 4561G → R in AT3D; type-I. 2 Publications
VAR_007087
Natural varianti457 – 4571R → T in AT3D; type-II. 1 Publication
VAR_007088
Natural varianti459 – 4613Missing in AT3D; type-I.
VAR_007089
Natural varianti459 – 4591A → D in AT3D; type-I. 1 Publication
VAR_007090
Natural varianti461 – 4611P → L in AT3D; type-II; Budapest. 1 Publication
VAR_007091
Natural varianti462 – 4621C → F in AT3D; type-I. 2 Publications
VAR_007092

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi414 – 4141A → K: Reduces interaction with thrombin by 99%. 1 Publication
Mutagenesisi414 – 4141A → Q: Reduces interaction with thrombin by 80%. 1 Publication

Keywords - Diseasei

Disease mutation, Thrombophilia

Organism-specific databases

MIMi613118. phenotype.
Orphaneti82. Hereditary thrombophilia due to congenital antithrombin deficiency.
PharmGKBiPA35026.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 32321 PublicationAdd
BLAST
Chaini33 – 464432Antithrombin-IIIPRO_0000032489Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi40 ↔ 1601 Publication
Disulfide bondi53 ↔ 1271 Publication
Glycosylationi128 – 1281N-linked (GlcNAc...)4 Publications
Glycosylationi167 – 1671N-linked (GlcNAc...)1 Publication
Glycosylationi187 – 1871N-linked (GlcNAc...) (complex)6 Publications
Glycosylationi224 – 2241N-linked (GlcNAc...)3 Publications
Disulfide bondi279 ↔ 4621 Publication

Post-translational modificationi

Phosphorylation sites are present in the extracellular medium.

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP01008.
PaxDbiP01008.
PRIDEiP01008.

2D gel databases

DOSAC-COBS-2DPAGEP01008.
REPRODUCTION-2DPAGEP01008.
SWISS-2DPAGEP01008.

PTM databases

PhosphoSiteiP01008.

Miscellaneous databases

PMAP-CutDBP01008.

Expressioni

Tissue specificityi

Found in plasma.

Gene expression databases

ArrayExpressiP01008.
BgeeiP01008.
CleanExiHS_SERPINC1.
GenevestigatoriP01008.

Organism-specific databases

HPAiCAB016790.
HPA001816.
HPA024007.

Interactioni

Subunit structurei

Forms protease inhibiting heterodimer with TMPRSS7.

Protein-protein interaction databases

BioGridi106953. 1 interaction.
DIPiDIP-38009N.
IntActiP01008. 3 interactions.

Structurei

Secondary structure

1
464
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi39 – 413
Turni44 – 463
Beta strandi51 – 533
Helixi78 – 10124
Beta strandi104 – 1063
Beta strandi108 – 1103
Helixi112 – 12312
Helixi128 – 13710
Helixi140 – 1423
Helixi145 – 1495
Helixi151 – 16616
Turni167 – 1693
Beta strandi170 – 18112
Beta strandi184 – 1863
Helixi188 – 19811
Beta strandi203 – 2053
Helixi207 – 22519
Turni226 – 2283
Beta strandi236 – 2394
Beta strandi240 – 2423
Beta strandi245 – 25511
Beta strandi257 – 2593
Helixi263 – 2653
Beta strandi267 – 2726
Beta strandi274 – 2763
Beta strandi278 – 29417
Helixi296 – 2983
Beta strandi300 – 3067
Beta strandi309 – 3179
Beta strandi320 – 3223
Helixi324 – 3296
Helixi333 – 34210
Beta strandi344 – 35310
Beta strandi355 – 3628
Helixi364 – 3696
Helixi374 – 3763
Turni378 – 3803
Turni384 – 3863
Beta strandi389 – 3924
Beta strandi398 – 40710
Beta strandi409 – 4135
Beta strandi419 – 4224
Beta strandi423 – 4264
Beta strandi432 – 4354
Beta strandi440 – 4467
Turni447 – 4504
Beta strandi451 – 4599

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1ANTX-ray3.00I/L33-464[»]
1ATHX-ray3.20A/B33-464[»]
1AZXX-ray2.90I/L33-464[»]
1BR8X-ray2.90I/L33-464[»]
1DZGX-ray2.80I/L33-464[»]
1DZHX-ray2.85I/L33-464[»]
1E03X-ray2.90I/L33-464[»]
1E04X-ray2.60I/L33-464[»]
1E05X-ray2.62I/L33-464[»]
1JVQX-ray2.60I/L33-464[»]
1LK6X-ray2.80I/L33-464[»]
1NQ9X-ray2.60I/L33-464[»]
1OYHX-ray2.62I/L33-464[»]
1R1LX-ray2.70I/L33-464[»]
1SR5X-ray3.10A33-464[»]
1T1FX-ray2.75A/B/C33-464[»]
1TB6X-ray2.50I33-464[»]
2ANTX-ray2.60I/L33-464[»]
2B4XX-ray2.80I/L37-463[»]
2B5TX-ray2.10I33-464[»]
2BEHX-ray2.70I/L33-464[»]
2GD4X-ray3.30C/I22-464[»]
2HIJX-ray2.90I/L33-464[»]
2ZNHX-ray2.80A/B33-464[»]
3EVJX-ray3.00I/L33-464[»]
3KCGX-ray1.70I33-464[»]
4EB1X-ray2.80I/L33-464[»]
ProteinModelPortaliP01008.
SMRiP01008. Positions 37-463.

Miscellaneous databases

EvolutionaryTraceiP01008.

Family & Domainsi

Sequence similaritiesi

Belongs to the serpin family.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG4826.
HOVERGENiHBG005957.
InParanoidiP01008.
KOiK03911.
OMAiKADGESC.
OrthoDBiEOG7327PB.
PhylomeDBiP01008.
TreeFamiTF343094.

Family and domain databases

InterProiIPR015555. AT-III.
IPR023795. Serpin_CS.
IPR023796. Serpin_dom.
IPR000215. Serpin_fam.
[Graphical view]
PANTHERiPTHR11461. PTHR11461. 1 hit.
PTHR11461:SF53. PTHR11461:SF53. 1 hit.
PfamiPF00079. Serpin. 1 hit.
[Graphical view]
SMARTiSM00093. SERPIN. 1 hit.
[Graphical view]
SUPFAMiSSF56574. SSF56574. 1 hit.
PROSITEiPS00284. SERPIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P01008-1 [UniParc]FASTAAdd to Basket

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MYSNVIGTVT SGKRKVYLLS LLLIGFWDCV TCHGSPVDIC TAKPRDIPMN    50
PMCIYRSPEK KATEDEGSEQ KIPEATNRRV WELSKANSRF ATTFYQHLAD 100
SKNDNDNIFL SPLSISTAFA MTKLGACNDT LQQLMEVFKF DTISEKTSDQ 150
IHFFFAKLNC RLYRKANKSS KLVSANRLFG DKSLTFNETY QDISELVYGA 200
KLQPLDFKEN AEQSRAAINK WVSNKTEGRI TDVIPSEAIN ELTVLVLVNT 250
IYFKGLWKSK FSPENTRKEL FYKADGESCS ASMMYQEGKF RYRRVAEGTQ 300
VLELPFKGDD ITMVLILPKP EKSLAKVEKE LTPEVLQEWL DELEEMMLVV 350
HMPRFRIEDG FSLKEQLQDM GLVDLFSPEK SKLPGIVAEG RDDLYVSDAF 400
HKAFLEVNEE GSEAAASTAV VIAGRSLNPN RVTFKANRPF LVFIREVPLN 450
TIIFMGRVAN PCVK 464
Length:464
Mass (Da):52,602
Last modified:July 21, 1986 - v1
Checksum:i9A4E324F00683D9D
GO

Mass spectrometryi

Molecular mass is 57863 Da from positions 33 - 464. Determined by ESI. 1 Publication
Molecular mass is 57911 Da from positions 33 - 464. Determined by ESI. Variant Thr-414.1 Publication

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171Y → S in AT3D; type-I. 1 Publication
VAR_027450
Natural varianti23 – 231L → P in AT3D; type-I; does not undergo post-translational glycosylation. 2 Publications
VAR_012748
Natural varianti30 – 301V → E in Dublin. 3 Publications
Corresponds to variant rs2227624 [ dbSNP | Ensembl ].
VAR_007032
Natural varianti32 – 321C → R in AT3D; type-I. 1 Publication
VAR_027451
Natural varianti39 – 391I → N in AT3D; type-II; Rouen-3; lack of heparin-binding properties. 1 Publication
Corresponds to variant rs28929468 [ dbSNP | Ensembl ].
VAR_007033
Natural varianti52 – 521M → T Previously Whitechapel. 1 Publication
VAR_007034
Natural varianti56 – 561R → C in AT3D; type-II; Rouen-4; lack of heparin-binding properties. 2 Publications
Corresponds to variant rs28929469 [ dbSNP | Ensembl ].
VAR_007035
Natural varianti73 – 731P → L in AT3D; type-II; Basel/Franconville/Clichy-1/Clichy-2/Dublin-2; lacks heparin-binding ability. 3 Publications
Corresponds to variant rs121909551 [ dbSNP | Ensembl ].
VAR_007036
Natural varianti79 – 791R → C in AT3D; Tours/Alger/Amiens/Toyama/Paris-1/Paris-2/Padua-2/Barcelona-2/Kumamoto/Omura/Sasebo; lacks heparin-binding ability. 3 Publications
VAR_007037
Natural varianti79 – 791R → H in AT3D; type-II; Rouen-1/Padua-1/Bligny/Budapest-2; lack of heparin-binding properties. 2 Publications
Corresponds to variant rs121909552 [ dbSNP | Ensembl ].
VAR_007038
Natural varianti79 – 791R → S in AT3D; type-II; Rouen-2; lack of heparin-binding properties. 1 Publication
VAR_007039
Natural varianti87 – 871Missing in AT3D; type-I. 1 Publication
VAR_007040
Natural varianti89 – 891R → C in AT3D; type-I. 1 Publication
Corresponds to variant rs147266200 [ dbSNP | Ensembl ].
VAR_007041
Natural varianti90 – 901F → L in AT3D; type-I; Budapest-6. 1 Publication
VAR_007042
Natural varianti95 – 951Y → C in AT3D; type-I. 1 Publication
VAR_027452
Natural varianti95 – 951Y → S in AT3D; type-I. 2 Publications
VAR_012316
Natural varianti98 – 981L → P in AT3D; type-I. 1 Publication
VAR_027453
Natural varianti108 – 1092Missing in AT3D; type-I.
VAR_007043
Natural varianti112 – 1121P → T in AT3D; type-I. 2 Publications
VAR_007044
Natural varianti121 – 1211M → K in AT3D; type-I. 1 Publication
VAR_027454
Natural varianti127 – 1271C → R in AT3D; type-I. 1 Publication
VAR_027455
Natural varianti131 – 1311L → F in AT3D; type-II; Budapest-3/Budapest-7. 2 Publications
VAR_007045
Natural varianti131 – 1311L → V in AT3D; type-II; Southport. 2 Publications
VAR_007046
Natural varianti133 – 1331Q → K in AT3D; type I. 1 Publication
VAR_007047
Natural varianti138 – 1392Missing in AT3D; type-I.
VAR_007048
Natural varianti146 – 1461K → E in AT3D; Dreux; complete loss af heparin binding. 1 Publication
VAR_027456
Natural varianti147 – 1471T → A.1 Publication
Corresponds to variant rs2227606 [ dbSNP | Ensembl ].
VAR_013085
Natural varianti148 – 1481S → P in AT3D; type-II; Nagasaki; defective heparin binding associated with thrombosis. 2 Publications
VAR_007049
Natural varianti150 – 1501Q → P in AT3D; type-II; Vienna. 2 Publications
VAR_007050
Natural varianti152 – 1543Missing in AT3D; type-I.
VAR_012749
Natural varianti152 – 1521H → Y in AT3D; type-I. 1 Publication
VAR_007051
Natural varianti153 – 1531Missing in AT3D; type-I.
VAR_007052
Natural varianti158 – 1581L → P in AT3D; type-I. 1 Publication
VAR_007053
Natural varianti160 – 1601C → Y in AT3D; type-I. 2 Publications
VAR_027457
Natural varianti161 – 1611R → Q in AT3D; type-II; Geneva. 2 Publications
VAR_007054
Natural varianti167 – 1671N → T.1 Publication
VAR_012750
Natural varianti178 – 1781L → H in AT3D; type-I. 1 Publication
VAR_027458
Natural varianti179 – 1791F → L in AT3D; type-I. 1 Publication
VAR_027459
Natural varianti190 – 1901Y → C Polymorphism in population of Scandinavian origin. 2 Publications
VAR_007055
Natural varianti198 – 1981Y → C in AT3D; type-I and -II; Whitechapel. 1 Publication
VAR_007056
Natural varianti198 – 1981Y → H in AT3D; type-I. 2 Publications
VAR_027460
Natural varianti214 – 2141S → F in AT3D; type-I. 1 Publication
VAR_027461
Natural varianti214 – 2141S → Y in AT3D; type-I.
VAR_007057
Natural varianti218 – 2181Missing in AT3D; type-I. 1 Publication
VAR_027462
Natural varianti219 – 2191N → D in AT3D; type-II; Rouen-6; increases affinity for heparin. 2 Publications
VAR_007059
Natural varianti219 – 2191N → K in AT3D; type-II; Glasgow-3. 1 Publication
VAR_007058
Natural varianti223 – 2231S → P in AT3D; type-I. 2 Publications
VAR_027463
Natural varianti243 – 2431T → I in AT3D; type-I. 1 Publication
VAR_027464
Natural varianti251 – 2511I → T in AT3D; type-I. 1 Publication
VAR_027465
Natural varianti257 – 2571W → R in AT3D; type-I. 2 Publications
VAR_027466
Natural varianti261 – 2611F → L in AT3D. 1 Publication
VAR_027467
Natural varianti269 – 2691E → K in AT3D; type-II; Truro, increases affinity for heparin. 1 Publication
VAR_007060
Natural varianti273 – 30735Missing in AT3D; type-I.
VAR_007061Add
BLAST
Natural varianti283 – 2831M → I in AT3D; type-II. 2 Publications
VAR_007062
Natural varianti283 – 2831M → V in AT3D; type-II. 1 Publication
VAR_027468
Natural varianti302 – 3021L → P in AT3D; type-I.
VAR_007063
Natural varianti316 – 3161I → N in AT3D; type-II; Haslar/Whitechapel. 1 Publication
VAR_007064
Natural varianti323 – 3231S → P in AT3D.
VAR_027469
Natural varianti334 – 3341E → K in AT3D; type-II. 1 Publication
VAR_007065
Natural varianti344 – 3441Missing in AT3D; type-I.
VAR_007066
Natural varianti381 – 3811S → P in AT3D; type-I.
VAR_007067
Natural varianti391 – 3911R → Q.
VAR_007068
Natural varianti397 – 3971S → P in AT3D; type-I. 1 Publication
VAR_027470
Natural varianti398 – 3981D → H in AT3D; type-I. 1 Publication
VAR_027471
Natural varianti412 – 4121S → R in AT3D; type-I. 2 Publications
VAR_027472
Natural varianti414 – 4141A → T in AT3D; type-II; Hamilton/Glasgow-2; reduces interaction with thrombin by 90%. 4 Publications
VAR_007069
Natural varianti416 – 4161A → P in AT3D; type-II; Charleville/Sudbury/Vicenza/Cambridge-1. 1 Publication
Corresponds to variant rs28930978 [ dbSNP | Ensembl ].
VAR_007070
Natural varianti416 – 4161A → S in AT3D; type-II; Cambridge-2. 2 Publications
Corresponds to variant rs121909548 [ dbSNP | Ensembl ].
VAR_007071
Natural varianti419 – 4191A → V in AT3D; type-I. 1 Publication
VAR_007072
Natural varianti424 – 4241G → D in AT3D; type-II; Stockholm. 2 Publications
VAR_007073
Natural varianti425 – 4251R → C in AT3D; type-II; Northwick-Park/Milano-1/Frankfurt-1; deprived of inhibitory activity. 4 Publications
Corresponds to variant rs121909554 [ dbSNP | Ensembl ].
VAR_007075
Natural varianti425 – 4251R → H in AT3D; type-II; Glasgow/Sheffield/Chicago/Avranches/Kumamoto-2; increases affinity for heparin; deprived of inhibitory activity. 5 Publications
VAR_007074
Natural varianti425 – 4251R → P in AT3D; type-II; Pescara; deprived of inhibitory of activity. 1 Publication
VAR_007076
Natural varianti426 – 4261S → L in AT3D; type-II; Denver/Milano-2; deprived of inhibitory activity. 3 Publications
VAR_007077
Natural varianti434 – 4341F → C in AT3D; type-II; Rosny. 1 Publication
VAR_007078
Natural varianti434 – 4341F → L in AT3D; type-II; Maisons-Laffite. 1 Publication
VAR_007080
Natural varianti434 – 4341F → S in AT3D; type-II; Torino. 1 Publication
VAR_007079
Natural varianti436 – 4361A → T in AT3D; type-II; Oslo/Paris-3. 1 Publication
VAR_007081
Natural varianti437 – 4371N → K in AT3D; type-II; La Rochelle. 1 Publication
VAR_007082
Natural varianti438 – 4381R → G in AT3D; type-II. 1 Publication
VAR_009258
Natural varianti438 – 4381R → M in AT3D; type-II; Kyoto. 2 Publications
VAR_007083
Natural varianti439 – 4391P → L in AT3D; type-II; Utah; deprived of inhibitory activity. 2 Publications
VAR_007084
Natural varianti439 – 4391P → T in AT3D; type-II; Budapest-5. 1 Publication
VAR_007085
Natural varianti441 – 4411L → P in AT3D; type-II. 1 Publication
VAR_027473
Natural varianti453 – 4531I → T in AT3D; type-I. 2 Publications
VAR_007086
Natural varianti456 – 4561G → R in AT3D; type-I. 2 Publications
VAR_007087
Natural varianti457 – 4571R → T in AT3D; type-II. 1 Publication
VAR_007088
Natural varianti459 – 4613Missing in AT3D; type-I.
VAR_007089
Natural varianti459 – 4591A → D in AT3D; type-I. 1 Publication
VAR_007090
Natural varianti461 – 4611P → L in AT3D; type-II; Budapest. 1 Publication
VAR_007091
Natural varianti462 – 4621C → F in AT3D; type-I. 2 Publications
VAR_007092

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti69 – 702EQ → QE AA sequence 1 Publication
Sequence conflicti77 – 771N → NN in BAA06212. 1 Publication
Sequence conflicti97 – 971H → R in AAG35525. 1 Publication
Sequence conflicti120 – 1201A → T in BAG35537. 1 Publication
Sequence conflicti226 – 2261T → A in BAG35537. 1 Publication
Sequence conflicti247 – 2493Missing AA sequence 1 Publication
Sequence conflicti388 – 3881Missing AA sequence 1 Publication
Sequence conflicti395 – 3951Y → YA AA sequence 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L00185 Genomic DNA. No translation available.
L00186 Genomic DNA. No translation available.
L00190 Genomic DNA. Translation: AAB40025.1.
D29832 mRNA. Translation: BAA06212.1.
X68793 Genomic DNA. Translation: CAA48690.1.
AF130100 mRNA. Translation: AAG35525.1.
AK312654 mRNA. Translation: BAG35537.1.
AF386078 Genomic DNA. Translation: AAK60337.1.
AL136170 Genomic DNA. Translation: CAI19423.1.
CH471067 Genomic DNA. Translation: EAW90969.1.
M21643 Genomic DNA. Translation: AAA51793.1.
M21644, M21643 Genomic DNA. Translation: AAA51794.1.
M21642
, M21636, M21637, M21638, M21640, M21641 Genomic DNA. Translation: AAA51796.1.
CCDSiCCDS1313.1.
PIRiA49494. XHHU3.
RefSeqiNP_000479.1. NM_000488.3.
UniGeneiHs.75599.

Genome annotation databases

EnsembliENST00000367698; ENSP00000356671; ENSG00000117601.
GeneIDi462.
KEGGihsa:462.
UCSCiuc001gjt.3. human.

Polymorphism databases

DMDMi113936.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Antithrombin entry

Antithrombin mutation database
SeattleSNPs
SHMPD

The Singapore human mutation and polymorphism database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L00185 Genomic DNA. No translation available.
L00186 Genomic DNA. No translation available.
L00190 Genomic DNA. Translation: AAB40025.1 .
D29832 mRNA. Translation: BAA06212.1 .
X68793 Genomic DNA. Translation: CAA48690.1 .
AF130100 mRNA. Translation: AAG35525.1 .
AK312654 mRNA. Translation: BAG35537.1 .
AF386078 Genomic DNA. Translation: A