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P07225

- PROS_HUMAN

UniProt

P07225 - PROS_HUMAN

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
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    • History
      Entry version 186 (01 Oct 2014)
      Sequence version 1 (01 Apr 1988)
      Previous versions | rss
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    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

    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. Golgi lumen Source: Reactome
    6. Golgi membrane Source: Reactome
    7. platelet alpha granule lumen Source: Reactome

    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

    ArrayExpressiP07225.
    BgeeiP07225.
    CleanExiHS_PROS1.
    GenevestigatoriP07225.

    Organism-specific databases

    HPAiHPA007724.
    HPA023974.

    Interactioni

    Protein-protein interaction databases

    BioGridi111611. 7 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 42-669.
    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.
    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.
    IPR008985. ConA-like_lec_gl_sf.
    IPR013320. ConA-like_subgrp.
    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

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    MRVLGGRCGA LLACLLLVLP VSEANFLSKQ QASQVLVRKR RANSLLEETK    50
    QGNLERECIE ELCNKEEARE VFENDPETDY FYPKYLVCLR SFQTGLFTAA 100
    RQSTNAYPDL RSCVNAIPDQ CSPLPCNEDG YMSCKDGKAS FTCTCKPGWQ 150
    GEKCEFDINE CKDPSNINGG CSQICDNTPG SYHCSCKNGF VMLSNKKDCK 200
    DVDECSLKPS ICGTAVCKNI PGDFECECPE GYRYNLKSKS CEDIDECSEN 250
    MCAQLCVNYP GGYTCYCDGK KGFKLAQDQK SCEVVSVCLP LNLDTKYELL 300
    YLAEQFAGVV LYLKFRLPEI SRFSAEFDFR TYDSEGVILY AESIDHSAWL 350
    LIALRGGKIE VQLKNEHTSK ITTGGDVINN GLWNMVSVEE LEHSISIKIA 400
    KEAVMDINKP GPLFKPENGL LETKVYFAGF PRKVESELIK PINPRLDGCI 450
    RSWNLMKQGA SGIKEIIQEK QNKHCLVTVE KGSYYPGSGI AQFHIDYNNV 500
    SSAEGWHVNV TLNIRPSTGT GVMLALVSGN NTVPFAVSLV DSTSEKSQDI 550
    LLSVENTVIY RIQALSLCSD QQSHLEFRVN RNNLELSTPL KIETISHEDL 600
    QRQLAVLDKA MKAKVATYLG GLPDVPFSAT PVNAFYNGCM EVNINGVQLD 650
    LDEAISKHND IRAHSCPSVW KKTKNS 676
    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

    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