SERPINC1
entrez
462
canonical
uniprot
P01008
canonical
ensembl
ENSG00000117601
resolver
ensp
ENSP00000356671
resolver
ensp
ENSP00000544381
resolver
ensp
ENSP00000544383
resolver
ensp
ENSP00000544391
resolver
enst
ENST00000367698
resolver
genesymbol
SERPINC1
resolver
genesymbol_syn
AT3
resolver
hgnc
HGNC:775
resolver
uniprot
B2R6P0
resolver
uniprot
P78439
resolver
uniprot
P78447
resolver
uniprot
Q13815
resolver
uniprot
Q5TC78
resolver
uniprot
Q7KZ43
resolver
uniprot
Q7KZ97
resolver
uniprot
Q9UC78
resolver
uniprot_entry
ANT3_HUMAN
resolver
uniprot_sec
B2R6P0
resolver
uniprot_sec
P78439
resolver
uniprot_sec
P78447
resolver
uniprot_sec
Q13815
resolver
uniprot_sec
Q5TC78
resolver
uniprot_sec
Q7KZ43
resolver
uniprot_sec
Q7KZ97
resolver
uniprot_sec
Q9UC78
resolver
amino_acid_sequence
MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMCIYRSPEKKATEDEGSEQKIPEATNRRVWELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACNDTLQQLMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGAKLQPLDFKENAEQSRAAINKWVSNKTEGRITDVIPSEAINELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCSASMMYQEGKFRYRRVAEGTQVLELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEWLDELEEMMLVVHMPRFRIEDGFSLKEQLQDMGLVDLFSPEKSKLPGIVAEGRDDLYVSDAFHKAFLEVNEEGSEAAASTAVVIAGRSLNPNRVTFKANRPFLVFIREVPLNTIIFMGRVANPCVK
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:10997988, ECO:0000269|PubMed:11713457, ECO:0000269|PubMed:11794707, ECO:0000269|PubMed:12353073, ECO:0000269|PubMed:12595305, ECO:0000269|PubMed:12894857, ECO:0000269|PubMed:15140129, ECO:0000269|PubMed:15164384, ECO:0000269|PubMed:1547341, ECO:0000269|PubMed:1551681, ECO:0000269|PubMed:1555650, ECO:0000269|PubMed:16908819, ECO:0000269|PubMed:1906811, ECO:0000269|PubMed:2013320, ECO:0000269|PubMed:2229057, ECO:0000269|PubMed:22758787, ECO:0000269|PubMed:2365065, ECO:0000269|PubMed:23910795, ECO:0000269|PubMed:2781509, ECO:0000269|PubMed:30046692, ECO:0000269|PubMed:3080419, ECO:0000269|PubMed:3162733, ECO:0000269|PubMed:3179438, ECO:0000269|PubMed:3191114, ECO:0000269|PubMed:32920809, ECO:0000269|PubMed:3805013, ECO:0000269|PubMed:6582486, ECO:0000269|PubMed:7734359, ECO:0000269|PubMed:7832187, ECO:0000269|PubMed:7878627, ECO:0000269|PubMed:7947234, ECO:0000269|PubMed:7959685, ECO:0000269|PubMed:7981186, ECO:0000269|PubMed:7989582, ECO:0000269|PubMed:7994035, ECO:0000269|PubMed:8274732, ECO:0000269|PubMed:8443391, ECO:0000269|PubMed:8486379, ECO:0000269|PubMed:8664906, ECO:0000269|PubMed:9031473, ECO:0000269|PubMed:9157604, ECO:0000269|PubMed:9759613, ECO:0000269|PubMed:9845533, ECO:0000269|Ref.3, ECO:0000269|Ref.56}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade (PubMed:15140129, PubMed:15853774). AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa (PubMed:15140129). Its inhibitory activity is greatly enhanced in the presence of heparin. {ECO:0000269|PubMed:15140129, ECO:0000269|PubMed:15853774}.
uniprot
proteins
mass_dalton
52602
uniprot
proteins
mutagenesis
MUTAGEN 414; /note="A->K: Reduces interaction with thrombin by 99%."; /evidence="ECO:0000269|PubMed:2013320"; MUTAGEN 414; /note="A->Q: Reduces interaction with thrombin by 80%."; /evidence="ECO:0000269|PubMed:2013320
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by FAM20C in the extracellular medium. {ECO:0000269|PubMed:26091039}.
uniprot
proteins
protein_family
Serpin family
uniprot
proteins
pubmed
10361121
uniprot
proteins
pubmed
10997988
uniprot
proteins
pubmed
11713457
uniprot
proteins
pubmed
11794707
uniprot
proteins
pubmed
12353073
uniprot
proteins
pubmed
12595305
uniprot
proteins
pubmed
12894857
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14760718
uniprot
proteins
pubmed
15084671
uniprot
proteins
pubmed
15140129
uniprot
proteins
pubmed
15164384
uniprot
proteins
pubmed
1547341
uniprot
proteins
pubmed
1551681
uniprot
proteins
pubmed
1555650
uniprot
proteins
pubmed
15853774
uniprot
proteins
pubmed
16263699
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16908819
uniprot
proteins
pubmed
1906811
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
1977621
uniprot
proteins
pubmed
19838169
uniprot
proteins
pubmed
2013320
uniprot
proteins
pubmed
2126464
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2229057
uniprot
proteins
pubmed
22758787
uniprot
proteins
pubmed
2365065
uniprot
proteins
pubmed
23910795
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26091039
uniprot
proteins
pubmed
2781509
uniprot
proteins
pubmed
30046692
uniprot
proteins
pubmed
3080419
uniprot
proteins
pubmed
3162733
uniprot
proteins
pubmed
3179438
uniprot
proteins
pubmed
3191114
uniprot
proteins
pubmed
32920809
uniprot
proteins
pubmed
3805013
uniprot
proteins
pubmed
6298709
uniprot
proteins
pubmed
6305982
uniprot
proteins
pubmed
6572945
uniprot
proteins
pubmed
6582486
uniprot
proteins
pubmed
6693405
uniprot
proteins
pubmed
7238875
uniprot
proteins
pubmed
7656006
uniprot
proteins
pubmed
7734359
uniprot
proteins
pubmed
7749926
uniprot
proteins
pubmed
7832187
uniprot
proteins
pubmed
7878627
uniprot
proteins
pubmed
7947234
uniprot
proteins
pubmed
7959685
uniprot
proteins
pubmed
7981186
uniprot
proteins
pubmed
7989582
uniprot
proteins
pubmed
7994035
uniprot
proteins
pubmed
8087553
uniprot
proteins
pubmed
8236149
uniprot
proteins
pubmed
8274732
uniprot
proteins
pubmed
8443391
uniprot
proteins
pubmed
8476848
uniprot
proteins
pubmed
8486379
uniprot
proteins
pubmed
8664906
uniprot
proteins
pubmed
9031473
uniprot
proteins
pubmed
9067613
uniprot
proteins
pubmed
9157604
uniprot
proteins
pubmed
9759613
uniprot
proteins
pubmed
9761669
uniprot
proteins
pubmed
9845533
uniprot
proteins
sequence_length
464
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space.
uniprot
proteins