SERPIND1
entrez
3053
canonical
uniprot
P05546
canonical
ensembl
ENSG00000099937
resolver
ensp
ENSP00000215727
resolver
genesymbol
SERPIND1
resolver
genesymbol_syn
HCF2
resolver
hgnc
HGNC:4838
resolver
uniprot
A0A7H0TJC6
resolver
uniprot
B2RAI1
resolver
uniprot
D3DX34
resolver
uniprot
Q6IBZ5
resolver
uniprot
Q8IVC0
resolver
uniprot_entry
HEP2_HUMAN
resolver
uniprot_entry
Q8IVC0_HUMAN
resolver
uniprot_sec
A0A7H0TJC6
resolver
uniprot_sec
B2RAI1
resolver
uniprot_sec
D3DX34
resolver
uniprot_sec
Q6IBZ5
resolver
amino_acid_sequence
MKHSLNALLIFLIITSAWGGSKGPLDQLEKGGETAQSADPQWEQLNNKNLSMPLLPADFHKENTVTNDWIPEGEEDDDYLDLEKIFSEDDDYIDIVDSLSVSPTDSDVSAGNILQLFHGKSRIQRLNILNAKFAFNLYRVLKDQVNTFDNIFIAPVGISTAMGMISLGLKGETHEQVHSILHFKDFVNASSKYEITTIHNLFRKLTHRLFRRNFGYTLRSVNDLYIQKQFPILLDFKTKVREYYFAEAQIADFSDPAFISKTNNHIMKLTKGLIKDALENIDPATQMMILNCIYFKGSWVNKFPVEMTHNHNFRLNEREVVKVSMMQTKGNFLAANDQELDCDILQLEYVGGISMLIVVPHKMSGMKTLEAQLTPRVVERWQKSMTNRTREVLLPKFKLEKNYNLVESLKLMGIRMLFDKNGNMAGISDQRIAIDLFKHQGTITVNEEGTQATTVTTVGFMPLSTQVRFTVDRPFLFLIYEHRTSCLLFMGRVANPSRS
uniprot
proteins
disease_involvement
DISEASE: Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]: A hemostatic disorder characterized by a tendency to recurrent thrombosis. {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:11204559, ECO:0000269|PubMed:15337701, ECO:0000269|PubMed:2647747}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner. {ECO:0000269|PubMed:1939083, ECO:0000269|PubMed:32827448}.; FUNCTION: Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils. {ECO:0000269|PubMed:1939083}.; FUNCTION: [Isoform 2]: Shows negligible inhibition, in vitro, of thrombin and tPA and no inhibition of factor Xa, in vitro. {ECO:0000269|PubMed:32827448}.
uniprot
proteins
mass_dalton
57071
uniprot
proteins
mutagenesis
MUTAGEN 122; /note="R->L: Normal thrombin inhibition and glycosaminoglycan affinity."; /evidence="ECO:0000269|PubMed:2104620"; MUTAGEN 122; /note="R->Q: Greatly reduced thrombin inhibition. Normal glycosaminoglycan affinity."; /evidence="ECO:0000269|PubMed:2104620"; MUTAGEN 122; /note="R->W: Greatly reduced thrombin inhibition. Normal glycosaminoglycan affinity."; /evidence="ECO:0000269|PubMed:2104620"; MUTAGEN 204; /note="K->M: Reduced heparin- and no dermatan sulfate-activated inhibition."; /evidence="ECO:0000269|PubMed:2104620"; MUTAGEN 204; /note="K->N: Reduced heparin- and no dermatan sulfate-activated inhibition."; /evidence="ECO:0000269|PubMed:2104620"; MUTAGEN 204; /note="K->T: Reduced heparin- and no dermatan sulfate-activated inhibition."; /evidence="ECO:0000269|PubMed:2104620
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
10391209
uniprot
proteins
pubmed
11204559
uniprot
proteins
pubmed
12169660
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15337701
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
1671335
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
1939083
uniprot
proteins
pubmed
1985958
uniprot
proteins
pubmed
2104620
uniprot
proteins
pubmed
26091039
uniprot
proteins
pubmed
2647747
uniprot
proteins
pubmed
2841345
uniprot
proteins
pubmed
2894851
uniprot
proteins
pubmed
3003690
uniprot
proteins
pubmed
32827448
uniprot
proteins
pubmed
3755044
uniprot
proteins
pubmed
3907702
uniprot
proteins
sequence_length
499
uniprot
proteins