Gene: [03^/PROS1] protein S, alpha (activated protein-C cofactor; vitamin K-dependent); thromboembolic disease, recurrent venous; [PROS ]


FUN

[1] The protein S is related functionally to another inhibitor of procoagulation factors, protein C (GEM:02q13/PROC), being the activation factor for the latter. Both proteins are components of the vitamin K-dependent serine protease family.
[2] Protein S in inactive form is bound to the complement component C4B (GEM:06p2133/C4B). In free state, it interacts with protein C, which is already activated (by the thrombin-thrombomodulin complex, see GEM:11^/F2 and GEM:20p112/THBD). In the resultant new complex, S and C proteins act as anticoagulators via (1) catalyzing the proteolysis of factors Va and VIIIa (GEM:01q2/F5 and GEM:0Xq28/F8C, respectively) and
(2) decreasing the activity of plasminogen activator inhibitor, thus accelerating the fibrinolysis (on plasmin, its activators, and their inhibitors see Comment in GEM:06q2/PLG and GEM:07q22/PLGAI1)."

FAG

Another PROS-like nucleic acid sequence is known, which is also mapped in chromosome 3 (GEM:03^/PROSP), however, its functional status remains unclear."

PAT

It is known that up to 8% cases of familial thromboembolic disease are accounted for by the deficiency of protein S in serum (Briet-1987; Gladson-1988). Recently it was demonstrated that in some cases this deficiency is the result of deletions in middle region of the structural gene, PROS1, rather than of any regulation or epigenetic processes (Ploos van Amstel-1989). It is assumed that the heterozygosity for protein S deficiency substantially increases the risk for venous thromboses and thromboembolisms; therefore, PROS1 gene deletions are valuable genetic markers for hereditary protein S deficiency and efficient diagnostic criteria for this form of familial thrombophilias."

REF

PHE,POP "Briet &: Thromb Haemost, 58, 29-?, 1987
PHE,PAT,MGC "Comp &: J Clin Invest, 74, 2082-2088, 1984a
PHE,PAT,MGC "Comp, Esmon: New Engl J Med, 311, 1525-1528, 1984b
MEB "Dahlback B: JBC, 261, 12022-?, 1986
MEB "De Fouw &: Blood, 67, 1189-?, 1986
PHE,PAT,MGC "Engesser &: Ann Int Med, 106, 677-682, 1987
MEB "Gardiner &: Circulation, 70, (Suppl II), 205-?, 1984
PHE,POP "Gladson &: Thromb Haemost, 59, 18-?, 1988
MUT "Hayashi T &: Blood, 83, 683-690, 1994
FUN "Heeb MJ &: PNAS, 91, 2728-2732, 1994
CLO,SEQ,MOP "Hoskins J &: PNAS, 84, N2, 349-353, 1987
PHE,PAT,MGC "Kamiya &: Blood, 67, 406-410, 1986
PAT "Koller H &: Neurology, 44, 1238-1240, 1994
LOC "Long GL &: Somat Cell Mol Genet, 14, 93-98, 1988
CLO,SEQ,MOP "Lundwall A &: PNAS, 83, N18, 6716-6720, 1986
FUN "Maillard C &: Endocrinology, 130, 1599-1604, 1992
PAT "Malnick SDH &: New Engl J Med, 329, 1898-1898, 1993
LOC "Naylor &: CCG, 46, (HGM9), 669, 1987
MUT,MOL,PAT,GEN "Ploos van Amstel HK &: Blood, 73, N2, 479-483, 1989
EXP,LOC,PRO "Ploos van Amstel HK &: BBRC, 157, 1033-1038, 1988
CLO,SEQ,MOP "Ploos van Amstel HK &: FEBS Lett, 222, N1, 186-190, 1987a
EXP,LOC,PRO "Ploos van Amstel HK &: Thromb Haemost, 58, 982-987, 1987b
PHE,PAT,MGC "Sas &: Thromb Haemost, 54, 724, 1985
PHE,PAT,MGC "Schwarz &: Blood, 64, 1297-1300, 1984
LOC "Stanislovitis &: AJHG, 41, A187, 1987
LOC "Watkins PC &: Blood, 71, 238-241, 1988
LOC "Watkins PC &: CCG, 46, (HGM9), 712, 1987

SWI

SWISSPROT: P07225

KEY

hem, clot

CLA

coding, basic

LOC

03 p11.1-q11.2

MIM

MIM: 176880

SYN

PROS

鸯铗痂蝈 蜞赕:

  • 暑嚆箅鲨铐睇 镳铗彖 S. 羊痤屙桢 沐磬
  • 缅 徨腙 (镳铗彖磬) S