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Protein

Vitamin K-dependent protein S

Gene

PROS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei499Not glycosylated; in variant Heerlen1

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • endopeptidase inhibitor activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Blood coagulation, Fibrinolysis, Hemostasis

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169382-MONOMER.
ReactomeiR-HSA-114608. Platelet degranulation.
R-HSA-140875. Common Pathway of Fibrin Clot Formation.
R-HSA-159740. Gamma-carboxylation of protein precursors.
R-HSA-159763. Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus.
R-HSA-159782. Removal of aminoterminal propeptides from gamma-carboxylated proteins.
R-HSA-202733. Cell surface interactions at the vascular wall.
R-HSA-977606. Regulation of Complement cascade.
SIGNORiP07225.

Names & Taxonomyi

Protein namesi
Recommended name:
Vitamin K-dependent protein S
Gene namesi
Name:PROS1
Synonyms:PROS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:9456. PROS1.

Subcellular locationi

GO - Cellular componenti

  • blood microparticle Source: UniProtKB
  • endoplasmic reticulum membrane Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular region Source: UniProtKB
  • extracellular space Source: BHF-UCL
  • Golgi lumen Source: Reactome
  • Golgi membrane Source: Reactome
  • plasma membrane Source: Reactome
  • platelet alpha granule lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)27 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612336
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04680215L → H in THPH5; reduced mutant protein levels and secretion. 2 Publications1
Natural variantiVAR_04680318V → E in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication1
Natural variantiVAR_04680440R → L in THPH5. 1 PublicationCorresponds to variant rs7614835dbSNPEnsembl.1
Natural variantiVAR_04680541R → H in THPH5. 1 Publication1
Natural variantiVAR_04680650K → E in THPH5. 1 PublicationCorresponds to variant rs748630360dbSNPEnsembl.1
Natural variantiVAR_04680752G → 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. 1 Publication1
Natural variantiVAR_04680867E → A in THPH5. 4 PublicationsCorresponds to variant rs766423432dbSNPEnsembl.1
Natural variantiVAR_04680968A → D in THPH5. 1 Publication1
Natural variantiVAR_04681072F → C in THPH5. 1 Publication1
Natural variantiVAR_01466678T → 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. 2 PublicationsCorresponds to variant rs6122dbSNPEnsembl.1
Natural variantiVAR_04681287V → L in THPH5. 1 PublicationCorresponds to variant rs557733421dbSNPEnsembl.1
Natural variantiVAR_04681388C → Y in THPH5. 1 Publication1
Natural variantiVAR_04681490R → C in THPH5; produces around 50% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 PublicationCorresponds to variant rs765935815dbSNPEnsembl.1
Natural variantiVAR_04681590R → H in THPH5. 1 PublicationCorresponds to variant rs200886866dbSNPEnsembl.1
Natural variantiVAR_04681695G → E in THPH5. 1 PublicationCorresponds to variant rs144526169dbSNPEnsembl.1
Natural variantiVAR_04681795G → R in THPH5; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. 2 Publications1
Natural variantiVAR_046819101R → C in THPH5. 1 PublicationCorresponds to variant rs778731080dbSNPEnsembl.1
Natural variantiVAR_046820111R → S in THPH5. 1 Publication1
Natural variantiVAR_046821121C → Y in THPH5. 1 Publication1
Natural variantiVAR_046822129D → G in THPH5. 2 PublicationsCorresponds to variant rs749024073dbSNPEnsembl.1
Natural variantiVAR_046823144T → N in THPH5. 3 PublicationsCorresponds to variant rs146366248dbSNPEnsembl.1
Natural variantiVAR_046824149W → C in THPH5. 1 Publication1
Natural variantiVAR_046825157D → G in THPH5. 1 PublicationCorresponds to variant rs751090951dbSNPEnsembl.1
Natural variantiVAR_046826161C → G in THPH5. 1 Publication1
Natural variantiVAR_046827166N → Y in THPH5. 1 Publication1
Natural variantiVAR_046829175C → F in THPH5. 2 Publications1
Natural variantiVAR_046830186C → Y in THPH5. 2 PublicationsCorresponds to variant rs779391826dbSNPEnsembl.1
Natural variantiVAR_005566196K → 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. 3 PublicationsCorresponds to variant rs121918474dbSNPEnsembl.1
Natural variantiVAR_046831204E → G in THPH5. 1 Publication1
Natural variantiVAR_046833241C → S in THPH5. 1 Publication1
Natural variantiVAR_046834243D → N in THPH5. 1 Publication1
Natural variantiVAR_046835245D → G in THPH5. 1 Publication1
Natural variantiVAR_046836247C → G in THPH5. 1 Publication1
Natural variantiVAR_046837249E → K in THPH5. 1 Publication1
Natural variantiVAR_005567258N → S in THPH5; produces around 30% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 3 PublicationsCorresponds to variant rs121918473dbSNPEnsembl.1
Natural variantiVAR_046838265C → R in THPH5. 1 Publication1
Natural variantiVAR_046839265C → W in THPH5. 1 Publication1
Natural variantiVAR_046840266Y → C in THPH5. 1 PublicationCorresponds to variant rs777616039dbSNPEnsembl.1
Natural variantiVAR_046841267C → S in THPH5. 1 Publication1
Natural variantiVAR_046842300L → P in THPH5. 1 Publication1
Natural variantiVAR_046843324S → P in THPH5. 1 Publication1
Natural variantiVAR_046844336G → D in THPH5. 1 Publication1
Natural variantiVAR_046845336G → S in THPH5. 1 Publication1
Natural variantiVAR_046846336G → V in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication1
Natural variantiVAR_046847339L → P in THPH5. 1 Publication1
Natural variantiVAR_046848351L → P in THPH5. 1 Publication1
Natural variantiVAR_046849355R → H in THPH5. 1 PublicationCorresponds to variant rs780863931dbSNPEnsembl.1
Natural variantiVAR_046850357G → R in THPH5. 1 Publication1
Natural variantiVAR_046851364K → E in THPH5. 1 Publication1
Natural variantiVAR_046852376D → N in THPH5. 1 Publication1
Natural variantiVAR_046853381G → D in THPH5. 1 Publication1
Natural variantiVAR_046854381G → V in THPH5. 1 Publication1
Natural variantiVAR_046855383W → R in THPH5. 1 Publication1
Natural variantiVAR_046857390E → K in THPH5. 1 Publication1
Natural variantiVAR_046858446L → P in THPH5. 2 Publications1
Natural variantiVAR_046859449C → S in THPH5. 1 Publication1
Natural variantiVAR_046860475C → R in THPH5. 1 Publication1
Natural variantiVAR_014116482G → C in THPH5. 1 Publication1
Natural variantiVAR_014117485Y → C in THPH5. 1 Publication1
Natural variantiVAR_046862501S → A in THPH5. 1 PublicationCorresponds to variant rs121918472dbSNPEnsembl.1
Natural variantiVAR_005568501S → P Variant Heerlen; could be associated with THPH5. 5 PublicationsCorresponds to variant rs121918472dbSNPEnsembl.1
Natural variantiVAR_046863508V → G in THPH5. 1 Publication1
Natural variantiVAR_046864508V → M in THPH5. 1 Publication1
Natural variantiVAR_046865515R → C in THPH5; secretion of the mutant markedly decreased compared with that of the wild-type; intracellular degradation and impaired secretion of the mutant. 2 PublicationsCorresponds to variant rs199469500dbSNPEnsembl.1
Natural variantiVAR_046866515R → P in THPH5. 2 Publications1
Natural variantiVAR_046867521G → D in THPH5. 1 Publication1
Natural variantiVAR_046868525A → P in THPH5. 1 Publication1
Natural variantiVAR_046869526L → S in THPH5. 1 Publication1
Natural variantiVAR_046870532T → A in THPH5. 1 PublicationCorresponds to variant rs371028997dbSNPEnsembl.1
Natural variantiVAR_046871552L → S in THPH5. 1 Publication1
Natural variantiVAR_014119561R → G in THPH5. 1 PublicationCorresponds to variant rs121918476dbSNPEnsembl.1
Natural variantiVAR_046872562I → L in THPH5; unknown pathological significance. 2 Publications1
Natural variantiVAR_046873568C → Y in THPH5. 1 Publication1
Natural variantiVAR_046874575L → R in THPH5. 1 Publication1
Natural variantiVAR_046876584L → Q in THPH5. 1 Publication1
Natural variantiVAR_046877611M → K in THPH5. 1 Publication1
Natural variantiVAR_046878611M → T in THPH5. 3 PublicationsCorresponds to variant rs750531364dbSNPEnsembl.1
Natural variantiVAR_046879616A → P in THPH5. 1 Publication1
Natural variantiVAR_046880622L → R in THPH5. 1 Publication1
Natural variantiVAR_046881630T → I in THPH5; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. 1 PublicationCorresponds to variant rs202190731dbSNPEnsembl.1
Natural variantiVAR_046882636Y → C in THPH5; shows intracellular degradation and decreased secretion. 1 PublicationCorresponds to variant rs368173480dbSNPEnsembl.1
Natural variantiVAR_046883638G → D in THPH5. 2 Publications1
Natural variantiVAR_046884639C → F in THPH5. 1 Publication1
Natural variantiVAR_046885639C → Y in THPH5. 1 Publication1
Natural variantiVAR_046886640M → T in THPH5; does not affect protein levels; the mutant is secreted at lower levels compared to wild-type. 2 Publications1
Natural variantiVAR_046887644I → S in THPH5. 1 Publication1
Natural variantiVAR_046888664H → P in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication1
Natural variantiVAR_046889665S → L in THPH5. 1 PublicationCorresponds to variant rs778685576dbSNPEnsembl.1
Natural variantiVAR_046890666C → R in THPH5. 4 Publications1
Natural variantiVAR_046891667P → L in THPH5. 2 Publications1
Thrombophilia due to protein S deficiency, autosomal recessive (THPH6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614514
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067302234Y → C in THPH6. 1 PublicationCorresponds to variant rs387906675dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi515R → A or E: Markedly reduced secretion of the mutant. 1 Publication1
Mutagenesisi515R → K: No change in secretion of the mutant. 1 Publication1

Keywords - Diseasei

Disease mutation, Thrombophilia

Organism-specific databases

DisGeNETi5627.
MalaCardsiPROS1.
MIMi612336. phenotype.
614514. phenotype.
OpenTargetsiENSG00000184500.
Orphaneti743. Hereditary thrombophilia due to congenital protein S deficiency.
PharmGKBiPA33809.

Chemistry databases

DrugBankiDB00055. Drotrecogin alfa.
DB00170. Menadione.
DB00464. Sodium Tetradecyl Sulfate.

Polymorphism and mutation databases

BioMutaiPROS1.
DMDMi131086.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Add BLAST24
PropeptideiPRO_000002211925 – 41Add BLAST17
ChainiPRO_000002212042 – 676Vitamin K-dependent protein SAdd BLAST635

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei474-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei484-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei554-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei574-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Disulfide bondi58 ↔ 63By similarity
Modified residuei604-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei614-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei664-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei674-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei704-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei734-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei774-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Disulfide bondi121 ↔ 134By similarity
Disulfide bondi126 ↔ 143By similarity
Modified residuei136(3R)-3-hydroxyaspartateBy similarity1
Disulfide bondi145 ↔ 154By similarity
Disulfide bondi161 ↔ 175By similarity
Disulfide bondi171 ↔ 184By similarity
Disulfide bondi186 ↔ 199By similarity
Disulfide bondi205 ↔ 2171 Publication
Disulfide bondi212 ↔ 2261 Publication
Disulfide bondi228 ↔ 2411 Publication
Disulfide bondi247 ↔ 2561 Publication
Disulfide bondi252 ↔ 2651 Publication
Disulfide bondi267 ↔ 2821 Publication
Disulfide bondi449 ↔ 475By similarity
Glycosylationi499N-linked (GlcNAc...)1
Glycosylationi509N-linked (GlcNAc...)Sequence analysis1
Glycosylationi530N-linked (GlcNAc...)1 Publication1
Disulfide bondi639 ↔ 666By similarity

Post-translational modificationi

The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.By similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Gamma-carboxyglutamic acid, Glycoprotein, Hydroxylation, Zymogen

Proteomic databases

EPDiP07225.
MaxQBiP07225.
PaxDbiP07225.
PeptideAtlasiP07225.
PRIDEiP07225.

PTM databases

iPTMnetiP07225.
PhosphoSitePlusiP07225.

Expressioni

Tissue specificityi

Plasma.

Gene expression databases

BgeeiENSG00000184500.
CleanExiHS_PROS1.
ExpressionAtlasiP07225. baseline and differential.
GenevisibleiP07225. HS.

Organism-specific databases

HPAiHPA007724.
HPA023974.

Interactioni

Protein-protein interaction databases

BioGridi111611. 12 interactors.
IntActiP07225. 4 interactors.
STRINGi9606.ENSP00000377783.

Structurei

Secondary structure

1676
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi204 – 212Combined sources9
Beta strandi227 – 229Combined sources3
Beta strandi233 – 235Combined sources3
Turni236 – 239Combined sources4
Beta strandi240 – 242Combined sources3
Helixi246 – 249Combined sources4
Beta strandi253 – 256Combined sources4
Beta strandi260 – 262Combined sources3
Beta strandi269 – 271Combined sources3
Beta strandi279 – 281Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Z6CNMR-A200-286[»]
ProteinModelPortaliP07225.
SMRiP07225.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP07225.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini42 – 87GlaPROSITE-ProRule annotationAdd BLAST46
Domaini117 – 155EGF-like 1PROSITE-ProRule annotationAdd BLAST39
Domaini157 – 200EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST44
Domaini201 – 242EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini243 – 283EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini299 – 475Laminin G-like 1PROSITE-ProRule annotationAdd BLAST177
Domaini484 – 666Laminin G-like 2PROSITE-ProRule annotationAdd BLAST183

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni88 – 116Thrombin-sensitiveAdd BLAST29

Sequence similaritiesi

Contains 4 EGF-like domains.PROSITE-ProRule annotation
Contains 1 Gla (gamma-carboxy-glutamate) domain.PROSITE-ProRule annotation
Contains 2 laminin G-like domains.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IGF6. Eukaryota.
ENOG410ZTGU. LUCA.
GeneTreeiENSGT00530000063339.
HOGENOMiHOG000065758.
HOVERGENiHBG051702.
InParanoidiP07225.
KOiK03908.
OMAiWNMVSVE.
OrthoDBiEOG091G02L2.
PhylomeDBiP07225.
TreeFamiTF352157.

Family and domain databases

Gene3Di2.60.120.200. 2 hits.
4.10.740.10. 1 hit.
InterProiIPR017857. Coagulation_fac_subgr_Gla_dom.
IPR013320. ConA-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR000294. GLA_domain.
IPR009030. Growth_fac_rcpt_.
IPR001791. Laminin_G.
IPR033189. PROS1.
[Graphical view]
PANTHERiPTHR24040:SF0. PTHR24040:SF0. 1 hit.
PfamiPF00008. EGF. 1 hit.
PF07645. EGF_CA. 2 hits.
PF00594. Gla. 1 hit.
PF00054. Laminin_G_1. 1 hit.
PF02210. Laminin_G_2. 1 hit.
[Graphical view]
PRINTSiPR00001. GLABLOOD.
SMARTiSM00181. EGF. 4 hits.
SM00179. EGF_CA. 4 hits.
SM00069. GLA. 1 hit.
SM00282. LamG. 2 hits.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 2 hits.
SSF57184. SSF57184. 1 hit.
SSF57630. SSF57630. 1 hit.
PROSITEiPS00010. ASX_HYDROXYL. 4 hits.
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 3 hits.
PS50026. EGF_3. 4 hits.
PS01187. EGF_CA. 3 hits.
PS00011. GLA_1. 1 hit.
PS50998. GLA_2. 1 hit.
PS50025. LAM_G_DOMAIN. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P07225-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRVLGGRCGA LLACLLLVLP VSEANFLSKQ QASQVLVRKR RANSLLEETK
60 70 80 90 100
QGNLERECIE ELCNKEEARE VFENDPETDY FYPKYLVCLR SFQTGLFTAA
110 120 130 140 150
RQSTNAYPDL RSCVNAIPDQ CSPLPCNEDG YMSCKDGKAS FTCTCKPGWQ
160 170 180 190 200
GEKCEFDINE CKDPSNINGG CSQICDNTPG SYHCSCKNGF VMLSNKKDCK
210 220 230 240 250
DVDECSLKPS ICGTAVCKNI PGDFECECPE GYRYNLKSKS CEDIDECSEN
260 270 280 290 300
MCAQLCVNYP GGYTCYCDGK KGFKLAQDQK SCEVVSVCLP LNLDTKYELL
310 320 330 340 350
YLAEQFAGVV LYLKFRLPEI SRFSAEFDFR TYDSEGVILY AESIDHSAWL
360 370 380 390 400
LIALRGGKIE VQLKNEHTSK ITTGGDVINN GLWNMVSVEE LEHSISIKIA
410 420 430 440 450
KEAVMDINKP GPLFKPENGL LETKVYFAGF PRKVESELIK PINPRLDGCI
460 470 480 490 500
RSWNLMKQGA SGIKEIIQEK QNKHCLVTVE KGSYYPGSGI AQFHIDYNNV
510 520 530 540 550
SSAEGWHVNV TLNIRPSTGT GVMLALVSGN NTVPFAVSLV DSTSEKSQDI
560 570 580 590 600
LLSVENTVIY RIQALSLCSD QQSHLEFRVN RNNLELSTPL KIETISHEDL
610 620 630 640 650
QRQLAVLDKA MKAKVATYLG GLPDVPFSAT PVNAFYNGCM EVNINGVQLD
660 670
LDEAISKHND IRAHSCPSVW KKTKNS
Length:676
Mass (Da):75,123
Last modified:April 1, 1988 - v1
Checksum:i2B88A04F85403F25
GO

Sequence cautioni

The sequence AAP45054 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti11L → P in AAA36479 (PubMed:3467362).Curated1
Sequence conflicti26F → L in AAA36479 (PubMed:3467362).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04680215L → H in THPH5; reduced mutant protein levels and secretion. 2 Publications1
Natural variantiVAR_04680318V → E in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication1
Natural variantiVAR_04680440R → L in THPH5. 1 PublicationCorresponds to variant rs7614835dbSNPEnsembl.1
Natural variantiVAR_04680541R → H in THPH5. 1 Publication1
Natural variantiVAR_04680650K → E in THPH5. 1 PublicationCorresponds to variant rs748630360dbSNPEnsembl.1
Natural variantiVAR_04680752G → 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. 1 Publication1
Natural variantiVAR_04680867E → A in THPH5. 4 PublicationsCorresponds to variant rs766423432dbSNPEnsembl.1
Natural variantiVAR_04680968A → D in THPH5. 1 Publication1
Natural variantiVAR_04681072F → C in THPH5. 1 Publication1
Natural variantiVAR_04681176P → L.3 PublicationsCorresponds to variant rs73846070dbSNPEnsembl.1
Natural variantiVAR_01466678T → 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. 2 PublicationsCorresponds to variant rs6122dbSNPEnsembl.1
Natural variantiVAR_04681287V → L in THPH5. 1 PublicationCorresponds to variant rs557733421dbSNPEnsembl.1
Natural variantiVAR_04681388C → Y in THPH5. 1 Publication1
Natural variantiVAR_04681490R → C in THPH5; produces around 50% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 PublicationCorresponds to variant rs765935815dbSNPEnsembl.1
Natural variantiVAR_04681590R → H in THPH5. 1 PublicationCorresponds to variant rs200886866dbSNPEnsembl.1
Natural variantiVAR_04681695G → E in THPH5. 1 PublicationCorresponds to variant rs144526169dbSNPEnsembl.1
Natural variantiVAR_04681795G → R in THPH5; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. 2 Publications1
Natural variantiVAR_04681898T → S.1 PublicationCorresponds to variant rs142805170dbSNPEnsembl.1
Natural variantiVAR_046819101R → C in THPH5. 1 PublicationCorresponds to variant rs778731080dbSNPEnsembl.1
Natural variantiVAR_046820111R → S in THPH5. 1 Publication1
Natural variantiVAR_046821121C → Y in THPH5. 1 Publication1
Natural variantiVAR_046822129D → G in THPH5. 2 PublicationsCorresponds to variant rs749024073dbSNPEnsembl.1
Natural variantiVAR_046823144T → N in THPH5. 3 PublicationsCorresponds to variant rs146366248dbSNPEnsembl.1
Natural variantiVAR_046824149W → C in THPH5. 1 Publication1
Natural variantiVAR_046825157D → G in THPH5. 1 PublicationCorresponds to variant rs751090951dbSNPEnsembl.1
Natural variantiVAR_046826161C → G in THPH5. 1 Publication1
Natural variantiVAR_046827166N → Y in THPH5. 1 Publication1
Natural variantiVAR_046828168N → S.1 PublicationCorresponds to variant rs144430063dbSNPEnsembl.1
Natural variantiVAR_046829175C → F in THPH5. 2 Publications1
Natural variantiVAR_046830186C → Y in THPH5. 2 PublicationsCorresponds to variant rs779391826dbSNPEnsembl.1
Natural variantiVAR_005566196K → 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. 3 PublicationsCorresponds to variant rs121918474dbSNPEnsembl.1
Natural variantiVAR_046831204E → G in THPH5. 1 Publication1
Natural variantiVAR_046832233R → K Neutral polymorphism; does not affect protein levels; the mutant is normally secreted. 3 PublicationsCorresponds to variant rs41267007dbSNPEnsembl.1
Natural variantiVAR_067302234Y → C in THPH6. 1 PublicationCorresponds to variant rs387906675dbSNPEnsembl.1
Natural variantiVAR_046833241C → S in THPH5. 1 Publication1
Natural variantiVAR_046834243D → N in THPH5. 1 Publication1
Natural variantiVAR_046835245D → G in THPH5. 1 Publication1
Natural variantiVAR_046836247C → G in THPH5. 1 Publication1
Natural variantiVAR_046837249E → K in THPH5. 1 Publication1
Natural variantiVAR_005567258N → S in THPH5; produces around 30% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 3 PublicationsCorresponds to variant rs121918473dbSNPEnsembl.1
Natural variantiVAR_046838265C → R in THPH5. 1 Publication1
Natural variantiVAR_046839265C → W in THPH5. 1 Publication1
Natural variantiVAR_046840266Y → C in THPH5. 1 PublicationCorresponds to variant rs777616039dbSNPEnsembl.1
Natural variantiVAR_046841267C → S in THPH5. 1 Publication1
Natural variantiVAR_046842300L → P in THPH5. 1 Publication1
Natural variantiVAR_046843324S → P in THPH5. 1 Publication1
Natural variantiVAR_046844336G → D in THPH5. 1 Publication1
Natural variantiVAR_046845336G → S in THPH5. 1 Publication1
Natural variantiVAR_046846336G → V in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication1
Natural variantiVAR_046847339L → P in THPH5. 1 Publication1
Natural variantiVAR_046848351L → P in THPH5. 1 Publication1
Natural variantiVAR_046849355R → H in THPH5. 1 PublicationCorresponds to variant rs780863931dbSNPEnsembl.1
Natural variantiVAR_046850357G → R in THPH5. 1 Publication1
Natural variantiVAR_046851364K → E in THPH5. 1 Publication1
Natural variantiVAR_046852376D → N in THPH5. 1 Publication1
Natural variantiVAR_046853381G → D in THPH5. 1 Publication1
Natural variantiVAR_046854381G → V in THPH5. 1 Publication1
Natural variantiVAR_046855383W → R in THPH5. 1 Publication1
Natural variantiVAR_046856385M → V.1 PublicationCorresponds to variant rs767653920dbSNPEnsembl.1
Natural variantiVAR_046857390E → K in THPH5. 1 Publication1
Natural variantiVAR_046858446L → P in THPH5. 2 Publications1
Natural variantiVAR_046859449C → S in THPH5. 1 Publication1
Natural variantiVAR_046860475C → R in THPH5. 1 Publication1
Natural variantiVAR_014116482G → C in THPH5. 1 Publication1
Natural variantiVAR_014117485Y → C in THPH5. 1 Publication1
Natural variantiVAR_046861495I → V.Corresponds to variant rs5017712dbSNPEnsembl.1
Natural variantiVAR_046862501S → A in THPH5. 1 PublicationCorresponds to variant rs121918472dbSNPEnsembl.1
Natural variantiVAR_005568501S → P Variant Heerlen; could be associated with THPH5. 5 PublicationsCorresponds to variant rs121918472dbSNPEnsembl.1
Natural variantiVAR_046863508V → G in THPH5. 1 Publication1
Natural variantiVAR_046864508V → M in THPH5. 1 Publication1
Natural variantiVAR_046865515R → C in THPH5; secretion of the mutant markedly decreased compared with that of the wild-type; intracellular degradation and impaired secretion of the mutant. 2 PublicationsCorresponds to variant rs199469500dbSNPEnsembl.1
Natural variantiVAR_046866515R → P in THPH5. 2 Publications1
Natural variantiVAR_046867521G → D in THPH5. 1 Publication1
Natural variantiVAR_046868525A → P in THPH5. 1 Publication1
Natural variantiVAR_046869526L → S in THPH5. 1 Publication1
Natural variantiVAR_046870532T → A in THPH5. 1 PublicationCorresponds to variant rs371028997dbSNPEnsembl.1
Natural variantiVAR_035981545E → G in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_046871552L → S in THPH5. 1 Publication1
Natural variantiVAR_014118559I → M.3 PublicationsCorresponds to variant rs184798444dbSNPEnsembl.1
Natural variantiVAR_014119561R → G in THPH5. 1 PublicationCorresponds to variant rs121918476dbSNPEnsembl.1
Natural variantiVAR_046872562I → L in THPH5; unknown pathological significance. 2 Publications1
Natural variantiVAR_046873568C → Y in THPH5. 1 Publication1
Natural variantiVAR_046874575L → R in THPH5. 1 Publication1
Natural variantiVAR_046875583N → H.1 PublicationCorresponds to variant rs139479630dbSNPEnsembl.1
Natural variantiVAR_046876584L → Q in THPH5. 1 Publication1
Natural variantiVAR_046877611M → K in THPH5. 1 Publication1
Natural variantiVAR_046878611M → T in THPH5. 3 PublicationsCorresponds to variant rs750531364dbSNPEnsembl.1
Natural variantiVAR_046879616A → P in THPH5. 1 Publication1
Natural variantiVAR_046880622L → R in THPH5. 1 Publication1
Natural variantiVAR_046881630T → I in THPH5; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. 1 PublicationCorresponds to variant rs202190731dbSNPEnsembl.1
Natural variantiVAR_046882636Y → C in THPH5; shows intracellular degradation and decreased secretion. 1 PublicationCorresponds to variant rs368173480dbSNPEnsembl.1
Natural variantiVAR_046883638G → D in THPH5. 2 Publications1
Natural variantiVAR_046884639C → F in THPH5. 1 Publication1
Natural variantiVAR_046885639C → Y in THPH5. 1 Publication1
Natural variantiVAR_046886640M → T in THPH5; does not affect protein levels; the mutant is secreted at lower levels compared to wild-type. 2 Publications1
Natural variantiVAR_046887644I → S in THPH5. 1 Publication1
Natural variantiVAR_046888664H → P in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication1
Natural variantiVAR_046889665S → L in THPH5. 1 PublicationCorresponds to variant rs778685576dbSNPEnsembl.1
Natural variantiVAR_046890666C → R in THPH5. 4 Publications1