P01008

※ Protein Information

Tag	Content
UniProt Accession	ANT3_HUMAN; P01008;
Entrez ID	462
GenBank Protein ID
GenBank Nucleotide ID
Protein Name	Antithrombin-III (ATIII) (Serpin C1)
Gene Name	SERPINC1; AT3; PRO0309
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	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. Functional Description 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.
Sequence (Fasta)	MYSNVIGTVT SGKRKVYLLS LLLIGFWDCV TCHGSPVDIC TAKPRDIPMN PMCIYRSPEK 60 KATEDEGSEQ KIPEATNRRV WELSKANSRF ATTFYQHLAD SKNDNDNIFL SPLSISTAFA 120 MTKLGACNDT LQQLMEVFKF DTISEKTSDQ IHFFFAKLNC RLYRKANKSS KLVSANRLFG 180 DKSLTFNETY QDISELVYGA KLQPLDFKEN AEQSRAAINK WVSNKTEGRI TDVIPSEAIN 240 ELTVLVLVNT IYFKGLWKSK FSPENTRKEL FYKADGESCS ASMMYQEGKF RYRRVAEGTQ 300 VLELPFKGDD ITMVLILPKP EKSLAKVEKE LTPEVLQEWL DELEEMMLVV HMPRFRIEDG 360 FSLKEQLQDM GLVDLFSPEK SKLPGIVAEG RDDLYVSDAF HKAFLEVNEE GSEAAASTAV 420 VIAGRSLNPN RVTFKANRPF LVFIREVPLN TIIFMGRVAN PCVK 465 Fasta Sequence >P01008\|SERPINC1; AT3; PRO0309\|Homo sapiens (Human) MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMCIYRSPEKKATEDEGSEQKIPEATNRRVWELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACNDTLQQLMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGAKLQPLDFKENAEQSRAAINKWVSNKTEGRITDVIPSEAINELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCSASMMYQEGKFRYRRVAEGTQVLELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEWLDELEEMMLVVHMPRFRIEDGFSLKEQLQDMGLVDLFSPEKSKLPGIVAEGRDDLYVSDAFHKAFLEVNEEGSEAAASTAVVIAGRSLNPNRVTFKANRPFLVFIREVPLNTIIFMGRVANPCVK

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Glycosylation	Antithrombin deficiency		C	N6	3169232
1	[Reference]: Sialidase and endo-beta-N-acetylglucosaminidase F treatment suggested that this heterogeneity was due to a partial glycosylation occurring at a new carbohydrate attachment sequence.

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 14) (view all)	MESH:D054058 ; Acute Coronary Syndrome MESH:D020152 ; Antithrombin III Deficiency MESH:D001778 ; Blood Coagulation Disorders MESH:D001930 ; Brain Injuries MESH:D002543 ; Cerebral Hemorrhage MESH:D006259 ; Craniocerebral Trauma MESH:D004211 ; Disseminated Intravascular Coagulation MESH:D020767 ; Intracranial Thrombosis MESH:D017114 ; Liver Failure, Acute MESH:D009404 ; Nephrotic Syndrome MESH:D012128 ; Respiratory Distress Syndrome, Adult MESH:D013927 ; Thrombosis MESH:D054556 ; Venous Thromboembolism MESH:D020246 ; Venous Thrombosis
HGMD (count: 228) (view all)	CP005313; Antithrombin deficiency; Complex rearrangements CX931208; Antithrombin deficiency; Complex rearrangements CD910483; Antithrombin deficiency; Small deletions CD061469; Antithrombin deficiency; Small deletions CD002478; Antithrombin deficiency; Small deletions CD994760; Antithrombin deficiency; Small deletions CD930904; Antithrombin deficiency; Small deletions CD930905; Antithrombin deficiency; Small deletions CD961789; Antithrombin deficiency; Small deletions CD941602; Antithrombin deficiency; Small deletions CD961790; Antithrombin deficiency; Small deletions CD002477; Antithrombin deficiency; Small deletions CD952113; Antithrombin deficiency; Small deletions CD910484; Antithrombin deficiency; Small deletions CD063609; Antithrombin deficiency; Small deletions CD952114; Antithrombin deficiency; Small deletions CD930900; Antithrombin deficiency; Small deletions CD052121; Antithrombin deficiency; Small deletions CD930902; Antithrombin deficiency; Small deletions CD982444; Antithrombin deficiency; Small deletions CD952112; Antithrombin deficiency; Small deletions CD910479; Antithrombin deficiency; Small deletions CD930909; Antithrombin deficiency; Small deletions CD941600; Antithrombin deficiency; Small deletions CD972019; Antithrombin deficiency; Small deletions CD073697; Antithrombin deficiency; Small deletions CD063610; Antithrombin deficiency; Small deletions CD910481; Antithrombin deficiency; Small deletions CD910482; Antithrombin deficiency; Small deletions CD961791; Antithrombin deficiency; Small deletions CD011109; Antithrombin deficiency; Small deletions CD930901; Antithrombin deficiency; Small deletions CD041608; Antithrombin deficiency; Small deletions CD024464; Antithrombin deficiency; Small deletions CD063611; Antithrombin deficiency; Small deletions CD045595; Antithrombin deficiency; Small deletions CD930903; Antithrombin deficiency; Small deletions CD910480; Antithrombin deficiency; Small deletions CD930908; Antithrombin deficiency; Small deletions CD930907; Antithrombin deficiency; Small deletions CD930906; Antithrombin deficiency; Small deletions CD972018; Antithrombin deficiency; Small deletions CD941601; Antithrombin deficiency; Small deletions CD941603; Antithrombin deficiency; Small deletions CD930910; Antithrombin deficiency; Small deletions CD972017; Antithrombin deficiency; Small deletions CG942239; Antithrombin deficiency; Gross deletions CG931333; Antithrombin deficiency; Gross deletions CG973532; Antithrombin deficiency; Gross deletions CG973533; Antithrombin deficiency; Gross deletions CG952445; Altered promoter activity, association with; Gross deletions CG005161; Antithrombin deficiency; Gross deletions CG005162; Antithrombin deficiency; Gross deletions CG870068; Antithrombin deficiency; Gross deletions CG067302; Antithrombin deficiency; Gross deletions CG067303; Antithrombin deficiency; Gross deletions CG921128; Antithrombin deficiency; Gross deletions CG082399; Antithrombin deficiency; Gross deletions CG082400; Antithrombin deficiency; Gross deletions CG973534; Antithrombin deficiency; Gross deletions CG067304; Antithrombin deficiency; Gross deletions CN005240; Antithrombin deficiency; Gross insertions CP005314; Antithrombin deficiency; Small indels CX942056; Antithrombin deficiency; Small indels CI941835; Antithrombin deficiency; Small insertions CI041962; Antithrombin deficiency; Small insertions CI941834; Antithrombin deficiency; Small insertions CI053668; Antithrombin deficiency; Small insertions CI941836; Antithrombin deficiency; Small insertions CI941829; Antithrombin deficiency; Small insertions CI972542; Antithrombin deficiency; Small insertions CI041963; Antithrombin deficiency; Small insertions CI992282; Antithrombin deficiency; Small insertions CI011219; Antithrombin deficiency; Small insertions CI013875; Antithrombin deficiency; Small insertions CI072609; Antithrombin deficiency; Small insertions CI941831; Antithrombin deficiency; Small insertions CI063724; Antithrombin deficiency; Small insertions CI941833; Antithrombin deficiency; Small insertions CI024361; Antithrombin deficiency; Small insertions CI942050; Antithrombin deficiency; Small insertions CI941830; Antithrombin deficiency; Small insertions CI056491; Antithrombin deficiency; Small insertions CI941832; Antithrombin deficiency; Small insertions CI952121; Antithrombin deficiency; Small insertions CI045600; Antithrombin deficiency; Small insertions CM034685; Antithrombin deficiency; Missense/nonsense CM045588; Antithrombin deficiency; Missense/nonsense CM010774; Antithrombin deficiency; Missense/nonsense CM980128; Antithrombin deficiency; Missense/nonsense CM063133; Antithrombin deficiency; Missense/nonsense CM960090; Antithrombin deficiency; Missense/nonsense CM900038; Antithrombin deficiency; Missense/nonsense CM980126; Antithrombin deficiency; Missense/nonsense CM890014; Antithrombin deficiency; Missense/nonsense CM057367; Deep vein thrombosis ?; Missense/nonsense CM050746; Antithrombin deficiency; Missense/nonsense CM057368; Deep vein thrombosis ?; Missense/nonsense CM950106; Antithrombin deficiency; Missense/nonsense CM063135; Antithrombin deficiency; Missense/nonsense CM010769; Antithrombin deficiency; Missense/nonsense CM890015; Antithrombin deficiency; Missense/nonsense CM860004; Antithrombin deficiency; Missense/nonsense CM980127; Antithrombin deficiency; Missense/nonsense CM890016; Antithrombin deficiency; Missense/nonsense CM930047; Antithrombin deficiency; Missense/nonsense CM860005; Antithrombin deficiency; Missense/nonsense CM930048; Antithrombin deficiency; Missense/nonsense CM960091; Antithrombin deficiency; Missense/nonsense CM930049; Antithrombin deficiency; Missense/nonsense CM073336; Antithrombin deficiency; Missense/nonsense CM940130; Antithrombin deficiency; Missense/nonsense CM952084; Antithrombin deficiency; Missense/nonsense CM010770; Antithrombin deficiency; Missense/nonsense CM940131; Antithrombin deficiency; Missense/nonsense CM044059; Antithrombin deficiency; Missense/nonsense CM015344; Antithrombin deficiency; Missense/nonsense CM063132; Antithrombin deficiency; Missense/nonsense CM034681; Antithrombin deficiency; Missense/nonsense CM984641; Antithrombin deficiency; Missense/nonsense CM970122; Antithrombin deficiency; Missense/nonsense CM055539; Antithrombin deficiency; Missense/nonsense CM950107; Antithrombin deficiency; Missense/nonsense CM930050; Antithrombin deficiency; Missense/nonsense CM992137; Antithrombin deficiency; Missense/nonsense CM940132; Antithrombin deficiency; Missense/nonsense CM022064; Antithrombin deficiency; Missense/nonsense CM063125; Antithrombin deficiency; Missense/nonsense CM930051; Antithrombin deficiency; Missense/nonsense CM950108; Antithrombin deficiency; Missense/nonsense CM063130; Antithrombin deficiency; Missense/nonsense CM940133; Antithrombin deficiency; Missense/nonsense CM070261; Antithrombin deficiency; Missense/nonsense CM960092; Antithrombin deficiency; Missense/nonsense CM942028; Antithrombin deficiency; Missense/nonsense CM063136; Antithrombin deficiency; Missense/nonsense CM092271; Deep vein thrombosis ; Missense/nonsense CM910056; Antithrombin deficiency; Missense/nonsense CM900039; Antithrombin deficiency; Missense/nonsense CM960093; Antithrombin deficiency; Missense/nonsense CM990199; Antithrombin deficiency; Missense/nonsense CM920110; Antithrombin deficiency; Missense/nonsense CM034682; Antithrombin deficiency; Missense/nonsense CM063140; Antithrombin deficiency; Missense/nonsense CM041434; Antithrombin deficiency; Missense/nonsense CM034683; Antithrombin deficiency; Missense/nonsense CM980129; Antithrombin deficiency; Missense/nonsense CM930052; Antithrombin deficiency; Missense/nonsense CM960094; Antithrombin deficiency; Missense/nonsense CM002217; Antithrombin deficiency; Missense/nonsense CM930053; Antithrombin deficiency; Missense/nonsense CM910057; Antithrombin deficiency; Missense/nonsense CM002218; Antithrombin deficiency; Missense/nonsense CM952085; Antithrombin deficiency; Missense/nonsense CM920111; Antithrombin deficiency; Missense/nonsense CM002219; Antithrombin deficiency; Missense/nonsense CM092272; Deep vein thrombosis ; Missense/nonsense CM002220; Antithrombin deficiency; Missense/nonsense CM092273; Deep vein thrombosis ; Missense/nonsense CM980130; Antithrombin deficiency; Missense/nonsense CM032031; Antithrombin deficiency; Missense/nonsense CM930054; Antithrombin deficiency; Missense/nonsense CM092274; Deep vein thrombosis ; Missense/nonsense CM940134; Antithrombin deficiency; Missense/nonsense CM002221; Antithrombin deficiency; Missense/nonsense CM970123; Antithrombin deficiency; Missense/nonsense CM063129; Antithrombin deficiency; Missense/nonsense CM092275; Deep vein thrombosis ; Missense/nonsense CM940135; Antithrombin deficiency; Missense/nonsense CM990200; Antithrombin deficiency; Missense/nonsense CM063138; Antithrombin deficiency; Missense/nonsense CM930055; Antithrombin deficiency; Missense/nonsense CM063139; Antithrombin deficiency; Missense/nonsense CM063128; Antithrombin deficiency; Missense/nonsense CM063126; Antithrombin deficiency; Missense/nonsense CM044940; Antithrombin deficiency; Missense/nonsense CM045586; Antithrombin deficiency; Missense/nonsense CM920112; Antithrombin deficiency; Missense/nonsense CM930056; Antithrombin deficiency; Missense/nonsense CM067460; Antithrombin deficiency; Missense/nonsense CM045587; Antithrombin deficiency; Missense/nonsense CM002222; Antithrombin deficiency; Missense/nonsense CM010771; Antithrombin deficiency; Missense/nonsense CM064261; Antithrombin deficiency; Missense/nonsense CM092276; Deep vein thrombosis ; Missense/nonsense CM063127; Antithrombin deficiency; Missense/nonsense CM063134; Antithrombin deficiency; Missense/nonsense CM980131; Antithrombin deficiency; Missense/nonsense CM880010; Antithrombin deficiency; Missense/nonsense CM890017; Antithrombin deficiency; Missense/nonsense CM910058; Antithrombin deficiency; Missense/nonsense CM930057; Antithrombin deficiency; Missense/nonsense CM910059; Antithrombin deficiency; Missense/nonsense CM880012; Antithrombin deficiency; Missense/nonsense CM880011; Antithrombin deficiency; Missense/nonsense CM890018; Antithrombin deficiency; Missense/nonsense CM890019; Antithrombin deficiency; Missense/nonsense CM910060; Antithrombin deficiency; Missense/nonsense CM910061; Antithrombin deficiency; Missense/nonsense CM940136; Antithrombin deficiency; Missense/nonsense CM890020; Antithrombin deficiency; Missense/nonsense CM910062; Antithrombin deficiency; Missense/nonsense CM910063; Antithrombin deficiency; Missense/nonsense CM010772; Antithrombin deficiency; Missense/nonsense CM880013; Antithrombin deficiency; Missense/nonsense CM921005; Antithrombin deficiency; Missense/nonsense CM063131; Antithrombin deficiency; Missense/nonsense CM063137; Antithrombin deficiency; Missense/nonsense CM034684; Antithrombin deficiency; Missense/nonsense CM940137; Antithrombin deficiency; Missense/nonsense CM940138; Antithrombin deficiency; Missense/nonsense CM010773; Antithrombin deficiency; Missense/nonsense CM930058; Antithrombin deficiency; Missense/nonsense CM920113; Antithrombin deficiency; Missense/nonsense CM940139; Antithrombin deficiency; Missense/nonsense CS991296; Antithrombin deficiency; Splicing CS011025; Antithrombin deficiency; Splicing CS041548; Antithrombin deficiency; Splicing CS011026; Antithrombin deficiency; Splicing CS920728; Antithrombin deficiency; Splicing CS045589; Antithrombin deficiency; Splicing CS961475; Antithrombin deficiency; Splicing CS941423; Antithrombin deficiency; Splicing CS092270; Deep vein thrombosis ; Splicing CS063385; Antithrombin deficiency; Splicing CS013816; Antithrombin deficiency; Splicing CS013817; Antithrombin deficiency; Splicing CS952107; Antithrombin deficiency; Splicing
GWASdb (count: 7) (view all)	rs2227611; LDL cholesterol; atherosclerosis\|coronary artery disease rs2759328; Cholesterol; arteriosclerosis\|coronary artery disease\|lipid metabolism disorder rs5878; Type 2 diabetes; type 2 diabetes mellitus rs5878; Multiple complex diseases; Null rs941989; Type 2 diabetes; type 2 diabetes mellitus rs941988; Cholesterol; arteriosclerosis\|coronary artery disease\|lipid metabolism disorder rs2227589; Cholesterol; arteriosclerosis\|coronary artery disease\|lipid metabolism disorder

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 7) (view all)	10 SNVIGTVTSGKRKVY dbPAF 174 NKSSKLVSANRLFGD dbPAF 214 FKENAEQSRAAINKW dbPAF 272 NTRKELFYKADGESC dbPAF 57 NPMCIYRSPEKKATE dbPAF 63 RSPEKKATEDEGSEQ dbPAF 68 KATEDEGSEQKIPEA dbPAF
Glycation (count: 17) (view all)	102 YQHLADSKNDNDNIF PLMD 146 KFDTISEKTSDQIHF PLMD 157 QIHFFFAKLNCRLYR PLMD 171 RKANKSSKLVSANRL PLMD 208 KLQPLDFKENAEQSR PLMD 260 FKGLWKSKFSPENTR PLMD 268 FSPENTRKELFYKAD PLMD 273 TRKELFYKADGESCS PLMD 289 SMMYQEGKFRYRRVA PLMD 307 QVLELPFKGDDITMV PLMD 319 TMVLILPKPEKSLAK PLMD 322 LILPKPEKSLAKVEK PLMD 382 LFSPEKSKLPGIVAE PLMD 435 NPNRVTFKANRPFLV PLMD 61 IYRSPEKKATEDEGS PLMD 71 EDEGSEQKIPEATNR PLMD 85 RRVWELSKANSRFAT PLMD

PTM

Modification Sites

Phosphorylation
(count: 7)
(view all)

10        SNVIGTVTSGKRKVY     dbPAF
174       NKSSKLVSANRLFGD     dbPAF
214       FKENAEQSRAAINKW     dbPAF
272       NTRKELFYKADGESC     dbPAF
57        NPMCIYRSPEKKATE     dbPAF
63        RSPEKKATEDEGSEQ     dbPAF

Glycation
(count: 17)
(view all)

102       YQHLADSKNDNDNIF     PLMD
146       KFDTISEKTSDQIHF     PLMD
157       QIHFFFAKLNCRLYR     PLMD
171       RKANKSSKLVSANRL     PLMD
208       KLQPLDFKENAEQSR     PLMD
260       FKGLWKSKFSPENTR     PLMD

※ Protein-Protein Interaction

Network

Interaction

Source

G8JLI4	P01008	BioGRID
O60760	P01008	BioGRID
P00734	P01008	HPRD; IntAct
P00740	P01008	DIP
P00747	P01008	HPRD
P01008	P01008	HPRD
P01008	P06276	BioDIPD;BioGRID
P01008	P19174	IntAct
P01008	P20151	HPRD
P01008	P34741	HPRD
P01008	P50748	BioGRID
P01008	P63128	BioGRID
P01008	Q14746	BioGRID
P01008	Q71DI3	BioGRID
P01008	Q92876	HPRD

PTMD Annotation Information

※ Protein Information

Functional Description

Fasta Sequence

※ PTM-Disease Association

※ Disease Cross-ref Annotation

※ PTM Sites

※ Protein-Protein Interaction