PROS_HUMAN
Source: PM23856902Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: PROS1 , PROS
Protein names and data: PROS_HUMAN , Vitamin K-dependent protein S; Flags: Precursor Lenght: 676 a.a.
Mass: 75123 Da
fasta formatted sequence
Function: Anticoagulant plasma protein; it is a cofactor to activated protein C in the degradation of coagulation factors Va and VIIIa. It helps to prevent coagulation and stimulating fibrinolysis.
Disease: ( OMIM: 176880 612336 614514 ) Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]: A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Based on the plasma levels of total and free PROS1 as well as the serine protease-activated protein C cofactor activity, three types of THPH5 have been described: type I, characterized by reduced total and free PROS1 levels together with reduced anticoagulant activity; type III, in which only free PROS1 antigen and PROS1 activity levels are reduced; and the rare type II which is characterized by normal concentrations of both total and free PROS1 antigen, but low cofactor activity. Note=The disease is caused by mutations affecting the gene represented in this entry. Thrombophilia due to protein S deficiency, autosomal recessive (THPH6) [MIM:614514]: A very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Secreted.
Tissue specificity: Plasma.
Genetic variants
15 - 15 L -> H (in THPH5). VAR_04680218 - 18 V -> E (in THPH5; expresses very low/ undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found). VAR_046803
40 - 40 R -> L (in THPH5; dbSNP:rs7614835). VAR_046804 7614835
41 - 41 R -> H (in THPH5). VAR_046805
50 - 50 K -> E (in THPH5). VAR_046806
52 - 52 G -> D (in THPH5; does not affect PROS1 production but results in 15.2-fold reduced PROS1 activity; has 5.4 fold reduced affinity for anionic phospholipid vesicles (P < 0.0001) and decreased affinity for an antibody specific for the Ca(2+)-dependent conformation of the PROS1 Gla domain). VAR_046807
67 - 67 E -> A (in THPH5). VAR_046808
68 - 68 A -> D (in THPH5). VAR_046809
72 - 72 F -> C (in THPH5). VAR_046810
76 - 76 P -> L (in dbSNP:rs73846070). VAR_046811 73846070
78 - 78 T -> M (in THPH5; reduces expression of PROS1 by 33.2% (P < 0.001) and activity by 3.6-fold; has only a modest 1.5-fold (P < 0.001) reduced affinity for phospholipid and an antibody specific for the Ca(2+)-dependent conformation of the PROS1 Gla domain; dbSNP:rs6122). VAR_014666 6122
87 - 87 V -> L (in THPH5). VAR_046812
88 - 88 C -> Y (in THPH5). VAR_046813
90 - 90 R -> C (in THPH5; produces around 50% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found). VAR_046814
90 - 90 R -> H (in THPH5). VAR_046815
95 - 95 G -> E (in THPH5). VAR_046816
95 - 95 G -> R (in THPH5; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1). VAR_046817
98 - 98 T -> S (in dbSNP:rs142805170). VAR_046818 142805170
101 - 101 R -> C (in THPH5). VAR_046819
111 - 111 R -> S (in THPH5). VAR_046820
121 - 121 C -> Y (in THPH5). VAR_046821
129 - 129 D -> G (in THPH5). VAR_046822
144 - 144 T -> N (in THPH5). VAR_046823
149 - 149 W -> C (in THPH5). VAR_046824
157 - 157 D -> G (in THPH5). VAR_046825
161 - 161 C -> G (in THPH5). VAR_046826
166 - 166 N -> Y (in THPH5). VAR_046827
168 - 168 N -> S. VAR_046828
175 - 175 C -> F (in THPH5). VAR_046829
186 - 186 C -> Y (in THPH5). VAR_046830
196 - 196 K -> E (in THPH5; Tokushima; the specific activity decreases to 58% of that of the wild-type PROS1; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1; dbSNP:rs121918474). VAR_005566 121918474
204 - 204 E -> G (in THPH5). VAR_046831
233 - 233 R -> K (in THPH5; expresses lower (p < 0.05) PROS1 levels compared to wild-type; has impaired secretion; dbSNP:rs41267007). VAR_046832 41267007
234 - 234 Y -> C (in THPH6). VAR_067302
241 - 241 C -> S (in THPH5). VAR_046833
243 - 243 D -> N (in THPH5). VAR_046834
245 - 245 D -> G (in THPH5). VAR_046835
247 - 247 C -> G (in THPH5). VAR_046836
249 - 249 E -> K (in THPH5). VAR_046837
258 - 258 N -> S (in THPH5; produces around 30% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found). VAR_005567
265 - 265 C -> R (in THPH5). VAR_046838
265 - 265 C -> W (in THPH5). VAR_046839
266 - 266 Y -> C (in THPH5). VAR_046840
267 - 267 C -> S (in THPH5). VAR_046841
300 - 300 L -> P (in THPH5). VAR_046842
324 - 324 S -> P (in THPH5). VAR_046843
336 - 336 G -> D (in THPH5). VAR_046844
336 - 336 G -> S (in THPH5). VAR_046845
336 - 336 G -> V (in THPH5; expresses very low/ undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found). VAR_046846
339 - 339 L -> P (in THPH5). VAR_046847
351 - 351 L -> P (in THPH5). VAR_046848
355 - 355 R -> H (in THPH5). VAR_046849
357 - 357 G -> R (in THPH5). VAR_046850
364 - 364 K -> E (in THPH5). VAR_046851
376 - 376 D -> N (in THPH5). VAR_046852
381 - 381 G -> D (in THPH5). VAR_046853
381 - 381 G -> V (in THPH5). VAR_046854
383 - 383 W -> R (in THPH5). VAR_046855
385 - 385 M -> V. VAR_046856
390 - 390 E -> K (in THPH5). VAR_046857
446 - 446 L -> P (in THPH5). VAR_046858
449 - 449 C -> S (in THPH5). VAR_046859
475 - 475 C -> R (in THPH5). VAR_046860
482 - 482 G -> C (in THPH5). VAR_014116
485 - 485 Y -> C (in THPH5). VAR_014117
495 - 495 I -> V (in dbSNP:rs5017712). VAR_046861 5017712
501 - 501 S -> A (in THPH5; dbSNP:rs121918472). VAR_046862 121918472
501 - 501 S -> P (variant Heerlen; could be associated with THPH5; dbSNP:rs121918472). VAR_005568 121918472
508 - 508 V -> G (in THPH5). VAR_046863
508 - 508 V -> M (in THPH5). VAR_046864
515 - 515 R -> C (in THPH5; secretion of the mutant markedly decreased compared with that of the wild-type; intracellular degradation and impaired secretion of the mutant). VAR_046865
515 - 515 R -> P (in THPH5). VAR_046866
521 - 521 G -> D (in THPH5). VAR_046867
525 - 525 A -> P (in THPH5). VAR_046868
526 - 526 L -> S (in THPH5). VAR_046869
532 - 532 T -> A (in THPH5). VAR_046870
545 - 545 E -> G (in a colorectal cancer sample; somatic mutation). VAR_035981
552 - 552 L -> S (in THPH5). VAR_046871
559 - 559 I -> M (in dbSNP:rs184798444). VAR_014118 184798444
561 - 561 R -> G (in THPH5). VAR_014119
562 - 562 I -> L (in THPH5; unknown pathological significance). VAR_046872
568 - 568 C -> Y (in THPH5). VAR_046873
575 - 575 L -> R (in THPH5). VAR_046874
583 - 583 N -> H. VAR_046875
584 - 584 L -> Q (in THPH5). VAR_046876
611 - 611 M -> K (in THPH5). VAR_046877
611 - 611 M -> T (in THPH5). VAR_046878
616 - 616 A -> P (in THPH5). VAR_046879
622 - 622 L -> R (in THPH5). VAR_046880
630 - 630 T -> I (in THPH5; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1). VAR_046881
636 - 636 Y -> C (in THPH5; shows intracellular degradation and decreased secretion). VAR_046882
638 - 638 G -> D (in THPH5). VAR_046883
639 - 639 C -> F (in THPH5). VAR_046884
639 - 639 C -> Y (in THPH5). VAR_046885
640 - 640 M -> T (in THPH5). VAR_046886
644 - 644 I -> S (in THPH5). VAR_046887
664 - 664 H -> P (in THPH5; expresses very low/ undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found). VAR_046888
665 - 665 S -> L (in THPH5). VAR_046889
666 - 666 C -> R (in THPH5). VAR_046890
667 - 667 P -> L (in THPH5). VAR_046891
Database cross-references
UniProt: P07225Ensembl: ENST00000394236
MIM: 176880
MIM: 612336
MIM: 614514
neXtProt: NX_P07225
Antibodypedia: P07225 (may not find the protein thus also not any antibody)
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