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P07225

- PROS_HUMAN

UniProt

P07225 - PROS_HUMAN

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Protein

Vitamin K-dependent protein S

Gene

PROS1

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Sitei499 – 4991Not glycosylated; in variant Heerlen

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. endopeptidase inhibitor activity Source: ProtInc

GO - Biological processi

  1. blood coagulation Source: Reactome
  2. cellular protein metabolic process Source: Reactome
  3. fibrinolysis Source: UniProtKB-KW
  4. innate immune response Source: Reactome
  5. leukocyte migration Source: Reactome
  6. negative regulation of endopeptidase activity Source: GOC
  7. peptidyl-glutamic acid carboxylation Source: Reactome
  8. platelet activation Source: Reactome
  9. platelet degranulation Source: Reactome
  10. post-translational protein modification Source: Reactome
  11. proteolysis Source: Reactome
  12. regulation of complement activation Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Blood coagulation, Fibrinolysis, Hemostasis

Keywords - Ligandi

Calcium

Enzyme and pathway databases

ReactomeiREACT_1050. Gamma-carboxylation of protein precursors.
REACT_118707. Regulation of Complement cascade.
REACT_12051. Cell surface interactions at the vascular wall.
REACT_1439. Common Pathway.
REACT_1906. Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus.
REACT_733. Removal of aminoterminal propeptides from gamma-carboxylated proteins.

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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:9456. PROS1.

Subcellular locationi

GO - Cellular componenti

  1. blood microparticle Source: UniProt
  2. endoplasmic reticulum membrane Source: Reactome
  3. extracellular region Source: UniProtKB
  4. extracellular space Source: BHF-UCL
  5. extracellular vesicular exosome Source: UniProtKB
  6. Golgi lumen Source: Reactome
  7. Golgi membrane Source: Reactome
  8. 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) [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.26 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151L → H in THPH5. 1 Publication
VAR_046802
Natural varianti18 – 181V → E in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication
VAR_046803
Natural varianti40 – 401R → L in THPH5. 1 Publication
Corresponds to variant rs7614835 [ dbSNP | Ensembl ].
VAR_046804
Natural varianti41 – 411R → H in THPH5. 1 Publication
VAR_046805
Natural varianti50 – 501K → E in THPH5. 1 Publication
VAR_046806
Natural varianti52 – 521G → 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 Publication
VAR_046807
Natural varianti67 – 671E → A in THPH5. 4 Publications
VAR_046808
Natural varianti68 – 681A → D in THPH5. 1 Publication
VAR_046809
Natural varianti72 – 721F → C in THPH5. 1 Publication
VAR_046810
Natural varianti78 – 781T → 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 Publications
Corresponds to variant rs6122 [ dbSNP | Ensembl ].
VAR_014666
Natural varianti87 – 871V → L in THPH5. 1 Publication
VAR_046812
Natural varianti88 – 881C → Y in THPH5. 1 Publication
VAR_046813
Natural varianti90 – 901R → C in THPH5; produces around 50% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication
VAR_046814
Natural varianti90 – 901R → H in THPH5. 1 Publication
VAR_046815
Natural varianti95 – 951G → E in THPH5. 1 Publication
VAR_046816
Natural varianti95 – 951G → R in THPH5; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. 2 Publications
VAR_046817
Natural varianti101 – 1011R → C in THPH5. 1 Publication
VAR_046819
Natural varianti111 – 1111R → S in THPH5. 1 Publication
VAR_046820
Natural varianti121 – 1211C → Y in THPH5. 1 Publication
VAR_046821
Natural varianti129 – 1291D → G in THPH5. 2 Publications
VAR_046822
Natural varianti144 – 1441T → N in THPH5. 3 Publications
VAR_046823
Natural varianti149 – 1491W → C in THPH5. 1 Publication
VAR_046824
Natural varianti157 – 1571D → G in THPH5. 1 Publication
VAR_046825
Natural varianti161 – 1611C → G in THPH5. 1 Publication
VAR_046826
Natural varianti166 – 1661N → Y in THPH5. 1 Publication
VAR_046827
Natural varianti175 – 1751C → F in THPH5. 2 Publications
VAR_046829
Natural varianti186 – 1861C → Y in THPH5. 2 Publications
VAR_046830
Natural varianti196 – 1961K → 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 Publications
Corresponds to variant rs121918474 [ dbSNP | Ensembl ].
VAR_005566
Natural varianti204 – 2041E → G in THPH5. 1 Publication
VAR_046831
Natural varianti233 – 2331R → K in THPH5; expresses lower (p < 0.05) PROS1 levels compared to wild-type; has impaired secretion. 2 Publications
Corresponds to variant rs41267007 [ dbSNP | Ensembl ].
VAR_046832
Natural varianti241 – 2411C → S in THPH5. 1 Publication
VAR_046833
Natural varianti243 – 2431D → N in THPH5. 1 Publication
VAR_046834
Natural varianti245 – 2451D → G in THPH5. 1 Publication
VAR_046835
Natural varianti247 – 2471C → G in THPH5. 1 Publication
VAR_046836
Natural varianti249 – 2491E → K in THPH5. 1 Publication
VAR_046837
Natural varianti258 – 2581N → S in THPH5; produces around 30% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 3 Publications
VAR_005567
Natural varianti265 – 2651C → R in THPH5. 1 Publication
VAR_046838
Natural varianti265 – 2651C → W in THPH5. 1 Publication
VAR_046839
Natural varianti266 – 2661Y → C in THPH5. 1 Publication
VAR_046840
Natural varianti267 – 2671C → S in THPH5. 1 Publication
VAR_046841
Natural varianti300 – 3001L → P in THPH5. 1 Publication
VAR_046842
Natural varianti324 – 3241S → P in THPH5. 1 Publication
VAR_046843
Natural varianti336 – 3361G → D in THPH5. 1 Publication
VAR_046844
Natural varianti336 – 3361G → S in THPH5. 1 Publication
VAR_046845
Natural varianti336 – 3361G → V in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication
VAR_046846
Natural varianti339 – 3391L → P in THPH5. 1 Publication
VAR_046847
Natural varianti351 – 3511L → P in THPH5. 1 Publication
VAR_046848
Natural varianti355 – 3551R → H in THPH5. 1 Publication
VAR_046849
Natural varianti357 – 3571G → R in THPH5. 1 Publication
VAR_046850
Natural varianti364 – 3641K → E in THPH5. 1 Publication
VAR_046851
Natural varianti376 – 3761D → N in THPH5. 1 Publication
VAR_046852
Natural varianti381 – 3811G → D in THPH5. 1 Publication
VAR_046853
Natural varianti381 – 3811G → V in THPH5. 1 Publication
VAR_046854
Natural varianti383 – 3831W → R in THPH5. 1 Publication
VAR_046855
Natural varianti390 – 3901E → K in THPH5. 1 Publication
VAR_046857
Natural varianti446 – 4461L → P in THPH5. 2 Publications
VAR_046858
Natural varianti449 – 4491C → S in THPH5. 1 Publication
VAR_046859
Natural varianti475 – 4751C → R in THPH5. 1 Publication
VAR_046860
Natural varianti482 – 4821G → C in THPH5. 1 Publication
VAR_014116
Natural varianti485 – 4851Y → C in THPH5. 1 Publication
VAR_014117
Natural varianti501 – 5011S → A in THPH5. 1 Publication
Corresponds to variant rs121918472 [ dbSNP | Ensembl ].
VAR_046862
Natural varianti501 – 5011S → P Variant Heerlen; could be associated with THPH5. 5 Publications
Corresponds to variant rs121918472 [ dbSNP | Ensembl ].
VAR_005568
Natural varianti508 – 5081V → G in THPH5. 1 Publication
VAR_046863
Natural varianti508 – 5081V → M in THPH5. 1 Publication
VAR_046864
Natural varianti515 – 5151R → 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 Publications
VAR_046865
Natural varianti515 – 5151R → P in THPH5. 2 Publications
VAR_046866
Natural varianti521 – 5211G → D in THPH5. 1 Publication
VAR_046867
Natural varianti525 – 5251A → P in THPH5. 1 Publication
VAR_046868
Natural varianti526 – 5261L → S in THPH5. 1 Publication
VAR_046869
Natural varianti532 – 5321T → A in THPH5. 1 Publication
VAR_046870
Natural varianti552 – 5521L → S in THPH5. 1 Publication
VAR_046871
Natural varianti561 – 5611R → G in THPH5. 1 Publication
VAR_014119
Natural varianti562 – 5621I → L in THPH5; unknown pathological significance. 2 Publications
VAR_046872
Natural varianti568 – 5681C → Y in THPH5. 1 Publication
VAR_046873
Natural varianti575 – 5751L → R in THPH5. 1 Publication
VAR_046874
Natural varianti584 – 5841L → Q in THPH5. 1 Publication
VAR_046876
Natural varianti611 – 6111M → K in THPH5. 1 Publication
VAR_046877
Natural varianti611 – 6111M → T in THPH5. 3 Publications
VAR_046878
Natural varianti616 – 6161A → P in THPH5. 1 Publication
VAR_046879
Natural varianti622 – 6221L → R in THPH5. 1 Publication
VAR_046880
Natural varianti630 – 6301T → I in THPH5; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. 1 Publication
VAR_046881
Natural varianti636 – 6361Y → C in THPH5; shows intracellular degradation and decreased secretion. 1 Publication
VAR_046882
Natural varianti638 – 6381G → D in THPH5. 2 Publications
VAR_046883
Natural varianti639 – 6391C → F in THPH5. 1 Publication
VAR_046884
Natural varianti639 – 6391C → Y in THPH5. 1 Publication
VAR_046885
Natural varianti640 – 6401M → T in THPH5. 1 Publication
VAR_046886
Natural varianti644 – 6441I → S in THPH5. 1 Publication
VAR_046887
Natural varianti664 – 6641H → P in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication
VAR_046888
Natural varianti665 – 6651S → L in THPH5. 1 Publication
VAR_046889
Natural varianti666 – 6661C → R in THPH5. 4 Publications
VAR_046890
Natural varianti667 – 6671P → L in THPH5. 2 Publications
VAR_046891
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti234 – 2341Y → C in THPH6. 1 Publication
VAR_067302

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi515 – 5151R → A or E: Markedly reduced secretion of the mutant. 1 Publication
Mutagenesisi515 – 5151R → K: No change in secretion of the mutant. 1 Publication

Keywords - Diseasei

Disease mutation, Thrombophilia

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424Add
BLAST
Propeptidei25 – 4117PRO_0000022119Add
BLAST
Chaini42 – 676635Vitamin K-dependent protein SPRO_0000022120Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei47 – 4714-carboxyglutamate1 PublicationPROSITE-ProRule annotation
Modified residuei48 – 4814-carboxyglutamate1 PublicationPROSITE-ProRule annotation
Modified residuei55 – 5514-carboxyglutamate1 PublicationPROSITE-ProRule annotation
Modified residuei57 – 5714-carboxyglutamate1 PublicationPROSITE-ProRule annotation
Disulfide bondi58 ↔ 63By similarity
Modified residuei60 – 6014-carboxyglutamate1 PublicationPROSITE-ProRule annotation
Modified residuei61 – 6114-carboxyglutamate1 PublicationPROSITE-ProRule annotation
Modified residuei66 – 6614-carboxyglutamate1 PublicationPROSITE-ProRule annotation
Modified residuei67 – 6714-carboxyglutamate1 PublicationPROSITE-ProRule annotation
Modified residuei70 – 7014-carboxyglutamate1 PublicationPROSITE-ProRule annotation
Modified residuei73 – 7314-carboxyglutamate1 PublicationPROSITE-ProRule annotation
Modified residuei77 – 7714-carboxyglutamate1 PublicationPROSITE-ProRule annotation
Disulfide bondi121 ↔ 134By similarity
Disulfide bondi126 ↔ 143By similarity
Modified residuei136 – 1361(3R)-3-hydroxyaspartateBy similarity
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
Glycosylationi499 – 4991N-linked (GlcNAc...)
Glycosylationi509 – 5091N-linked (GlcNAc...)Sequence Analysis
Glycosylationi530 – 5301N-linked (GlcNAc...)1 Publication
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

MaxQBiP07225.
PaxDbiP07225.
PeptideAtlasiP07225.
PRIDEiP07225.

PTM databases

PhosphoSiteiP07225.

Expressioni

Tissue specificityi

Plasma.

Gene expression databases

BgeeiP07225.
CleanExiHS_PROS1.
ExpressionAtlasiP07225. baseline and differential.
GenevestigatoriP07225.

Organism-specific databases

HPAiHPA007724.
HPA023974.

Interactioni

Protein-protein interaction databases

BioGridi111611. 9 interactions.
IntActiP07225. 3 interactions.
STRINGi9606.ENSP00000377783.

Structurei

Secondary structure

1
676
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi204 – 2129
Beta strandi227 – 2293
Beta strandi233 – 2353
Turni236 – 2394
Beta strandi240 – 2423
Helixi246 – 2494
Beta strandi253 – 2564
Beta strandi260 – 2623
Beta strandi269 – 2713
Beta strandi279 – 2813

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1Z6CNMR-A200-286[»]
ProteinModelPortaliP07225.
SMRiP07225. Positions 46-669.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP07225.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini42 – 8746GlaPROSITE-ProRule annotationAdd
BLAST
Domaini117 – 15539EGF-like 1PROSITE-ProRule annotationAdd
BLAST
Domaini157 – 20044EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini201 – 24242EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini243 – 28341EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini299 – 475177Laminin G-like 1PROSITE-ProRule annotationAdd
BLAST
Domaini484 – 666183Laminin G-like 2PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni88 – 11629Thrombin-sensitiveAdd
BLAST

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

eggNOGiNOG124763.
GeneTreeiENSGT00530000063339.
HOGENOMiHOG000065758.
HOVERGENiHBG051702.
InParanoidiP07225.
KOiK03908.
OMAiWNMVSVE.
OrthoDBiEOG7R2BJ0.
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.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR000294. GLA_domain.
IPR009030. Growth_fac_rcpt_N_dom.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF00008. EGF. 1 hit.
PF07645. EGF_CA. 1 hit.
PF00594. Gla. 1 hit.
PF00054. Laminin_G_1. 1 hit.
PF02210. Laminin_G_2. 1 hit.
[Graphical view]
PRINTSiPR00001. GLABLOOD.
SMARTiSM00181. EGF. 1 hit.
SM00179. EGF_CA. 3 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 AAP45054.1 differs from that shown. Reason: Erroneous gene model prediction.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti11 – 111L → P in AAA36479. (PubMed:3467362)Curated
Sequence conflicti26 – 261F → L in AAA36479. (PubMed:3467362)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151L → H in THPH5. 1 Publication
VAR_046802
Natural varianti18 – 181V → E in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication
VAR_046803
Natural varianti40 – 401R → L in THPH5. 1 Publication
Corresponds to variant rs7614835 [ dbSNP | Ensembl ].
VAR_046804
Natural varianti41 – 411R → H in THPH5. 1 Publication
VAR_046805
Natural varianti50 – 501K → E in THPH5. 1 Publication
VAR_046806
Natural varianti52 – 521G → 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 Publication
VAR_046807
Natural varianti67 – 671E → A in THPH5. 4 Publications
VAR_046808
Natural varianti68 – 681A → D in THPH5. 1 Publication
VAR_046809
Natural varianti72 – 721F → C in THPH5. 1 Publication
VAR_046810
Natural varianti76 – 761P → L.3 Publications
Corresponds to variant rs73846070 [ dbSNP | Ensembl ].
VAR_046811
Natural varianti78 – 781T → 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 Publications
Corresponds to variant rs6122 [ dbSNP | Ensembl ].
VAR_014666
Natural varianti87 – 871V → L in THPH5. 1 Publication
VAR_046812
Natural varianti88 – 881C → Y in THPH5. 1 Publication
VAR_046813
Natural varianti90 – 901R → C in THPH5; produces around 50% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication
VAR_046814
Natural varianti90 – 901R → H in THPH5. 1 Publication
VAR_046815
Natural varianti95 – 951G → E in THPH5. 1 Publication
VAR_046816
Natural varianti95 – 951G → R in THPH5; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. 2 Publications
VAR_046817
Natural varianti98 – 981T → S.1 Publication
Corresponds to variant rs142805170 [ dbSNP | Ensembl ].
VAR_046818
Natural varianti101 – 1011R → C in THPH5. 1 Publication
VAR_046819
Natural varianti111 – 1111R → S in THPH5. 1 Publication
VAR_046820
Natural varianti121 – 1211C → Y in THPH5. 1 Publication
VAR_046821
Natural varianti129 – 1291D → G in THPH5. 2 Publications
VAR_046822
Natural varianti144 – 1441T → N in THPH5. 3 Publications
VAR_046823
Natural varianti149 – 1491W → C in THPH5. 1 Publication
VAR_046824
Natural varianti157 – 1571D → G in THPH5. 1 Publication
VAR_046825
Natural varianti161 – 1611C → G in THPH5. 1 Publication
VAR_046826
Natural varianti166 – 1661N → Y in THPH5. 1 Publication
VAR_046827
Natural varianti168 – 1681N → S.1 Publication
VAR_046828
Natural varianti175 – 1751C → F in THPH5. 2 Publications
VAR_046829
Natural varianti186 – 1861C → Y in THPH5. 2 Publications
VAR_046830
Natural varianti196 – 1961K → 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 Publications
Corresponds to variant rs121918474 [ dbSNP | Ensembl ].
VAR_005566
Natural varianti204 – 2041E → G in THPH5. 1 Publication
VAR_046831
Natural varianti233 – 2331R → K in THPH5; expresses lower (p < 0.05) PROS1 levels compared to wild-type; has impaired secretion. 2 Publications
Corresponds to variant rs41267007 [ dbSNP | Ensembl ].
VAR_046832
Natural varianti234 – 2341Y → C in THPH6. 1 Publication
VAR_067302
Natural varianti241 – 2411C → S in THPH5. 1 Publication
VAR_046833
Natural varianti243 – 2431D → N in THPH5. 1 Publication
VAR_046834
Natural varianti245 – 2451D → G in THPH5. 1 Publication
VAR_046835
Natural varianti247 – 2471C → G in THPH5. 1 Publication
VAR_046836
Natural varianti249 – 2491E → K in THPH5. 1 Publication
VAR_046837
Natural varianti258 – 2581N → S in THPH5; produces around 30% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 3 Publications
VAR_005567
Natural varianti265 – 2651C → R in THPH5. 1 Publication
VAR_046838
Natural varianti265 – 2651C → W in THPH5. 1 Publication
VAR_046839
Natural varianti266 – 2661Y → C in THPH5. 1 Publication
VAR_046840
Natural varianti267 – 2671C → S in THPH5. 1 Publication
VAR_046841
Natural varianti300 – 3001L → P in THPH5. 1 Publication
VAR_046842
Natural varianti324 – 3241S → P in THPH5. 1 Publication
VAR_046843
Natural varianti336 – 3361G → D in THPH5. 1 Publication
VAR_046844
Natural varianti336 – 3361G → S in THPH5. 1 Publication
VAR_046845
Natural varianti336 – 3361G → V in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication
VAR_046846
Natural varianti339 – 3391L → P in THPH5. 1 Publication
VAR_046847
Natural varianti351 – 3511L → P in THPH5. 1 Publication
VAR_046848
Natural varianti355 – 3551R → H in THPH5. 1 Publication
VAR_046849
Natural varianti357 – 3571G → R in THPH5. 1 Publication
VAR_046850
Natural varianti364 – 3641K → E in THPH5. 1 Publication
VAR_046851
Natural varianti376 – 3761D → N in THPH5. 1 Publication
VAR_046852
Natural varianti381 – 3811G → D in THPH5. 1 Publication
VAR_046853
Natural varianti381 – 3811G → V in THPH5. 1 Publication
VAR_046854
Natural varianti383 – 3831W → R in THPH5. 1 Publication
VAR_046855
Natural varianti385 – 3851M → V.1 Publication
VAR_046856
Natural varianti390 – 3901E → K in THPH5. 1 Publication
VAR_046857
Natural varianti446 – 4461L → P in THPH5. 2 Publications
VAR_046858
Natural varianti449 – 4491C → S in THPH5. 1 Publication
VAR_046859
Natural varianti475 – 4751C → R in THPH5. 1 Publication
VAR_046860
Natural varianti482 – 4821G → C in THPH5. 1 Publication
VAR_014116
Natural varianti485 – 4851Y → C in THPH5. 1 Publication
VAR_014117
Natural varianti495 – 4951I → V.
Corresponds to variant rs5017712 [ dbSNP | Ensembl ].
VAR_046861
Natural varianti501 – 5011S → A in THPH5. 1 Publication
Corresponds to variant rs121918472 [ dbSNP | Ensembl ].
VAR_046862
Natural varianti501 – 5011S → P Variant Heerlen; could be associated with THPH5. 5 Publications
Corresponds to variant rs121918472 [ dbSNP | Ensembl ].
VAR_005568
Natural varianti508 – 5081V → G in THPH5. 1 Publication
VAR_046863
Natural varianti508 – 5081V → M in THPH5. 1 Publication
VAR_046864
Natural varianti515 – 5151R → 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 Publications
VAR_046865
Natural varianti515 – 5151R → P in THPH5. 2 Publications
VAR_046866
Natural varianti521 – 5211G → D in THPH5. 1 Publication
VAR_046867
Natural varianti525 – 5251A → P in THPH5. 1 Publication
VAR_046868
Natural varianti526 – 5261L → S in THPH5. 1 Publication
VAR_046869
Natural varianti532 – 5321T → A in THPH5. 1 Publication
VAR_046870
Natural varianti545 – 5451E → G in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035981
Natural varianti552 – 5521L → S in THPH5. 1 Publication
VAR_046871
Natural varianti559 – 5591I → M.3 Publications
Corresponds to variant rs184798444 [ dbSNP | Ensembl ].
VAR_014118
Natural varianti561 – 5611R → G in THPH5. 1 Publication
VAR_014119
Natural varianti562 – 5621I → L in THPH5; unknown pathological significance. 2 Publications
VAR_046872
Natural varianti568 – 5681C → Y in THPH5. 1 Publication
VAR_046873
Natural varianti575 – 5751L → R in THPH5. 1 Publication
VAR_046874
Natural varianti583 – 5831N → H.1 Publication
VAR_046875
Natural varianti584 – 5841L → Q in THPH5. 1 Publication
VAR_046876
Natural varianti611 – 6111M → K in THPH5. 1 Publication
VAR_046877
Natural varianti611 – 6111M → T in THPH5. 3 Publications
VAR_046878
Natural varianti616 – 6161A → P in THPH5. 1 Publication
VAR_046879
Natural varianti622 – 6221L → R in THPH5. 1 Publication
VAR_046880
Natural varianti630 – 6301T → I in THPH5; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. 1 Publication
VAR_046881
Natural varianti636 – 6361Y → C in THPH5; shows intracellular degradation and decreased secretion. 1 Publication
VAR_046882
Natural varianti638 – 6381G → D in THPH5. 2 Publications
VAR_046883
Natural varianti639 – 6391C → F in THPH5. 1 Publication
VAR_046884
Natural varianti639 – 6391C → Y in THPH5. 1 Publication
VAR_046885
Natural varianti640 – 6401M → T in THPH5. 1 Publication
VAR_046886
Natural varianti644 – 6441I → S in THPH5. 1 Publication
VAR_046887
Natural varianti664 – 6641H → P in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication
VAR_046888
Natural varianti665 – 6651S → L in THPH5. 1 Publication
VAR_046889
Natural varianti666 – 6661C → R in THPH5. 4 Publications
VAR_046890
Natural varianti667 – 6671P → L in THPH5. 2 Publications
VAR_046891

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y00692 mRNA. Translation: CAA68687.1.
Y00692 mRNA. Translation: CAA68688.1. Sequence problems.
M15036 mRNA. Translation: AAA36479.1.
M57853
, M57840, M57841, M57842, M57844, M57845, M57846, M57847, M57848, M57849, M57850, M57851, M57852 Genomic DNA. Translation: AAA60357.1.
AH002948 Genomic DNA. Translation: AAA60180.1.
AK292994 mRNA. Translation: BAF85683.1.
AY308744 Genomic DNA. Translation: AAP45054.1. Sequence problems.
CH471052 Genomic DNA. Translation: EAW79903.1.
CH471052 Genomic DNA. Translation: EAW79905.1.
BC015801 mRNA. Translation: AAH15801.1.
CCDSiCCDS2923.1.
PIRiA35610. KXHUS.
RefSeqiNP_000304.2. NM_000313.3.
UniGeneiHs.64016.

Genome annotation databases

EnsembliENST00000394236; ENSP00000377783; ENSG00000184500.
GeneIDi5627.
KEGGihsa:5627.
UCSCiuc003dqz.4. human.

Polymorphism databases

DMDMi131086.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

SeattleSNPs