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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PROS1 Gene

protein-coding   GIFtS: 68
GCID: GC03M093591

Protein S (Alpha)


(Previous symbol: PROS)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Protein S (Alpha)1 2     PSA2
PROS1 2 3     THPH52
PS212     THPH62
PS222     Protein Sa2
PS232     Vitamin K-Dependent Plasma Protein S2
PS242     Vitamin K-Dependent Protein S2
PS252     EC 3.4.218

External Ids:    HGNC: 94561   Entrez Gene: 56272   Ensembl: ENSG000001845007   OMIM: 1768805   UniProtKB: P072253   

Export aliases for PROS1 gene to outside databases

Previous GC identifers: GC03P090396 GC03M092806 GC03M090130 GC03M094912 GC03M095074 GC03M090954


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PROS1 Gene:
This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant
protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free,
functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene
result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an
adjacent region on chromosome 3. (provided by RefSeq, Feb 2009)

GeneCards Summary for PROS1 Gene: 
PROS1 (protein S (alpha)) is a protein-coding gene. Diseases associated with PROS1 include protein s deficiency, and cerebral sinovenous thrombosis, and among its related super-pathways are Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus and Complement and Coagulation Cascades. GO annotations related to this gene include endopeptidase inhibitor activity and calcium ion binding. An important paralog of this gene is SHBG.

UniProtKB/Swiss-Prot: PROS_HUMAN, P07225
Function: Anticoagulant plasma protein; it is a cofactor to activated protein C in the degradation of coagulation
factors Va and VIIIa. It helps to prevent coagulation and stimulating fibrinolysis

Gene Wiki entry for PROS1 (Protein S) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PROS1 gene promoter:
         FOXF2   AML1a   Sp1   FOXD3   C/EBPalpha   PPAR-gamma1   PPAR-gamma2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPROS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PROS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PROS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q11.2   Ensembl cytogenetic band:  3q11.1   HGNC cytogenetic band: 3q11.1

PROS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PROS1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M093591:  view genomic region     (about GC identifiers)

Start:
93,591,881 bp from pter      End:
93,692,934 bp from pter
Size:
101,054 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PROS_HUMAN, P07225 (See protein sequence)
Recommended Name: Vitamin K-dependent protein S precursor  
Size: 676 amino acids; 75123 Da
Subcellular location: Secreted
Sequence caution: Sequence=AAP45054.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for PROS1:
1Z6C (3D)    
Secondary accessions: A8KAC9 D3DN28 Q15518 Q7Z715 Q9UCZ8

Explore the universe of human proteins at neXtProt for PROS1: NX_P07225

Explore proteomics data for PROS1 at MOPED 

Post-translational modifications:

  • UniProtKB: The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF
    domains (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07225

  • 2 DME Specific Peptides for PROS1 (P07225)
     ERECIEE  GNLEREC 

    PROS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PROS1 Protein Expression
    REFSEQ proteins: NP_000304.2  
    ENSEMBL proteins: 
     ENSP00000377783   ENSP00000385794   ENSP00000330021   ENSP00000419616  
    Reactome Protein details: P07225
    Human Recombinant Protein Products for PROS1: 
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    Novus Biologicals PROS1 Proteins
    Novus Biologicals PROS1 Lysates
    Sino Biological Recombinant Protein for PROS1
    Sino Biological Cell Lysate for PROS1 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005576extracellular region TAS--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005796Golgi lumen TAS--
    GO:0031093platelet alpha granule lumen TAS--

    PROS1 for ontologies           About GeneDecksing



    PROS1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/10 InterPro protein domains (see all 10):
     IPR017857 Coagulation_fac_subgr_Gla_dom
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site

    Graphical View of Domain Structure for InterPro Entry P07225

    ProtoNet protein and cluster: P07225

    5/7 Blocks protein domains (see all 7):
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
    IPB001791 Laminin G
    IPB001881 EGF-like calcium-binding
    IPB002383 Coagulation factor GLA domain signature


    UniProtKB/Swiss-Prot: PROS_HUMAN, P07225
    Similarity: Contains 4 EGF-like domains
    Similarity: Contains 1 Gla (gamma-carboxy-glutamate) domain
    Similarity: Contains 2 laminin G-like domains


    PROS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PROS_HUMAN, P07225
    Function: Anticoagulant plasma protein; it is a cofactor to activated protein C in the degradation of coagulation
    factors Va and VIIIa. It helps to prevent coagulation and stimulating fibrinolysis

         Genatlas biochemistry entry for PROS1:
    protein S,alpha coagulation factor (cofactor of proC),vitamin K-dependent,ligand for TYRO3,AXL family of receptor
    tyrosine kinase

         Enzyme Number (IUBMB): EC 3.4.212

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity TAS8146182
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    PROS1 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Pros1):
     cardiovascular system  embryogenesis  hematopoietic system  homeostasis/metabolism  integument 
     liver/biliary system  mortality/aging  muscle  nervous system  no phenotypic analysis 
     normal 

    PROS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PROS1: Pros1tm1.1Ansc Pros1tm1.2Grl

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PROS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PROS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PROS1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PROS1 

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    hsa-miR-3919 hsa-miR-380 hsa-miR-3682-3p
    SwitchGear 3'UTR luciferase reporter plasmidPROS1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PROS1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PROS1 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Gamma-carboxylation, transport, and amino-terminal cleavage of proteins
    Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus0.89
    Gamma-carboxylation, transport, and amino-terminal cleavage of proteins0.82
    Removal of aminoterminal propeptides from gamma-carboxylated proteins0.89
    Warfarin Pathway, Pharmacodynamics0.67
    Gamma-carboxylation of protein precursors0.89
    2Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    3Platelet degranulation
    Platelet degranulation 0.94
    Response to elevated platelet cytosolic Ca2+0.94
    4Immune System
    Immune System0.56
    Innate Immune System0.50
    5Platelet activation, signaling and aggregation
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for PROS1
        Blood Coagulation Signaling Pathways

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PROS1
        Extrinsic Prothrombin Activation Pathway
    Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway

    1 BioSystems Pathway for PROS1
        Complement and Coagulation Cascades


    5/16        Reactome Pathways for PROS1 (see all 16)
        Removal of aminoterminal propeptides from gamma-carboxylated proteins
    Response to elevated platelet cytosolic Ca2+
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    Gamma-carboxylation, transport, and amino-terminal cleavage of proteins
    Platelet degranulation

    1 PharmGKB Pathway for PROS1
        Warfarin Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for PROS1):
        Complement and coagulation cascades


    PROS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PROS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for PROS1 (P072253 ENSP000003777834) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    F5P122593, ENSP000003567714I2D: score=2 STRING: ENSP00000356771
    F8P004513, ENSP000003533934I2D: score=2 STRING: ENSP00000353393
    C4BPAP040033, ENSP000003560374I2D: score=1 STRING: ENSP00000356037
    F2P007343, ENSP000003085414I2D: score=1 STRING: ENSP00000308541
    PROCP040703, ENSP000002340714I2D: score=1 STRING: ENSP00000234071
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0006508proteolysis TAS--
    GO:0007596blood coagulation TAS--
    GO:0010951negative regulation of endopeptidase activity TAS8146182
    GO:0017187peptidyl-glutamic acid carboxylation TAS--

    PROS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PROS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PROS1 (PROS)

    1 HMDB Compound for PROS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    MenadioneVitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)58-27-5--

    3 DrugBank Compounds for PROS1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Drotrecogin alfaAnticoagulant protein C (see all 4)60202-16-6target--1828915 3160800 12062545
    Menadione2-Methyl-1,4-Naphthalenedione (see all 7)58-27-5targetactivator8161215 12033454
    Sodium Tetradecyl SulfateMonotetradecylsulfate sodium salt (see all 7)1191-50-0targetinhibitor19442540 1344580

    10/29 Novoseek inferred chemical compound relationships for PROS1 gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    estramustine phosphate 72.1 1 10076719 (1)
    gamma-carboxyglutamic acid 67 1 10200912 (1)
    estramustine 61.1 4 15479494 (2), 17656558 (1)
    cpsa 55.9 6 9730463 (1), 15274402 (1)
    goserelin 55.4 2 18183354 (1)
    docetaxel 37.1 2 20404974 (1), 10076719 (1)
    mitoxantrone 35.5 2 10751862 (2)
    serine 25.9 8 9492842 (1), 9261179 (1), 10604721 (1), 12746846 (1) (see all 6)
    testosterone 21.6 23 8626436 (4), 8537247 (2), 15774238 (2), 19503784 (2) (see all 10)
    streptavidin 21.5 3 11114110 (2)

    Search CenterWatch for drugs/clinical trials and news about PROS1 / PROS

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for PROS1 gene: 
    NM_000313.3  

    Unigene Cluster for PROS1:

    Protein S (alpha)
    Hs.64016  [show with all ESTs]
    Unigene Representative Sequence: NM_000313
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394236(uc010hoo.3 uc003drb.4) ENST00000407433(uc003dqz.4)
    ENST00000348974 ENST00000472684 ENST00000488658
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK292994.1 AK303895.1 BC015801.1 M14338.1 M15036.1 X12892.1 Y00692.1 

    7 DOTS entries:

    DT.92431429  DT.40293243  DT.97843414  DT.92431430  DT.120867618  DT.120867637  DT.95072512 

    24/174 AceView cDNA sequences (see all 174):

    H79684 H84032 N36607 BC015801 AI140233 AA369126 BU633685 BQ894339 
    AW950240 AA424875 CA392161 CB130160 CA435757 BM678370 AI056481 BF724873 
    AW772072 AA009723 AW772518 CA502740 H84031 CA390534 BM473027 BQ004370 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PROS1 expression in normal human tissues (normalized intensities)      PROS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTAGTGTC
    PROS1 Expression
    About this image


    PROS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Inner Cell Mass Cells Inner Cell Mass
             Line H9 (WA09)
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...
     
     Kidney (Urinary System)
             Podocytes Podocyte Layer
     
     Liver (Hepatobiliary System)

    See PROS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PROS1

    SOURCE GeneReport for Unigene cluster: Hs.64016

    UniProtKB/Swiss-Prot: PROS_HUMAN, P07225
    Tissue specificity: Plasma

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PROS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for PROS1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pros11 , 5 protein S (alpha)1, 5 82.2(n)1
    79.82(a)1
      16 (36.43 cM)5
    191281  NM_011173.21  NP_035303.11 
     628543075 
    chicken
    (Gallus gallus)
    Aves PROS11 protein S (alpha) 70.55(n)
    65.05(a)
      418430  XM_416641.3  XP_416641.2 
    lizard
    (Anolis carolinensis)
    Reptilia PROS16
    protein S (alpha)
    56(a)
    1 ↔ 1
    3(166347880-166396218)
    zebrafish
    (Danio rerio)
    Actinopterygii pros11 protein S (alpha) 54.99(n)
    53.3(a)
      768180  NM_001077323.1  NP_001070791.1 


    ENSEMBL Gene Tree for PROS1 (if available)
    TreeFam Gene Tree for PROS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PROS1 gene
    SHBG2  GAS62  
    18/50 SIMAP similar genes for PROS1 using alignment to 32 protein entries:     PROS_HUMAN (see all proteins) (see all similar genes):
    PROC    PRRG1    PROC1    F10    F2    PROZ
    PRRG3    F9    GAS6    SHBG    VLDLR    DKFZp666G247
    FBN1    NOTCH3    FBN2    LTBP4    LTBP1    CRB1

    PROS1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PROS1
    PGOHUM00000250250


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1956 SNPs in PROS1 are shown (see all 1956)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0141194
    Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)4--see VAR_0141192 R G mis40--------
    VAR_0468704
    Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)4--see VAR_0468702 T A mis40--------
    VAR_0468784
    Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)4--see VAR_0468782 M T mis40--------
    VAR_0468374
    Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)4--see VAR_0468372 E K mis40--------
    VAR_0468464
    Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)4--see VAR_0468462 G V mis40--------
    VAR_0468294
    Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)4--see VAR_0468292 C F mis40--------
    VAR_0468194
    Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)4--see VAR_0468192 R C mis40--------
    VAR_0468024
    Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)4--see VAR_0468022 L H mis40--------
    VAR_0468554
    Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)4--see VAR_0468552 W R mis40--------
    VAR_0359814
    A colorectal cancer sample4--see VAR_0359812 E G mis40--------

    HapMap Linkage Disequilibrium report for PROS1 (93591881 - 93692934 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PROS1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2657355CNV Deletion23128226
    nsv834764CNV Loss17160897
    nsv877161CNV Gain21882294


    Human Gene Mutation Database (HGMD): PROS1

    Locus Specific Mutation Databases (LSDB): PROS1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PROS1
    DNA2.0 Custom Variant and Variant Library Synthesis for PROS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 176880   
    OMIM disorders: 612336  
    UniProtKB/Swiss-Prot: PROS_HUMAN, P07225
  • Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]: A hemostatic disorder
    characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Based on
    the plasma levels of total and free PROS1 as well as the serine protease-activated protein C cofactor activity,
    three types of THPH5 have been described: type I, characterized by reduced total and free PROS1 levels together
    with reduced anticoagulant activity; type III, in which only free PROS1 antigen and PROS1 activity levels are
    reduced; and the rare type II which is characterized by normal concentrations of both total and free PROS1
    antigen, but low cofactor activity. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Thrombophilia due to protein S deficiency, autosomal recessive (THPH6) [MIM:614514]: A very rare and
    severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy.
    Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/51 diseases for PROS1 (see all 51):    About MalaCards
    protein s deficiency    cerebral sinovenous thrombosis    prostate cancer 3    thrombophilia due to protein s deficiency
    thrombophilia due to protein s deficiency, autosomal recessive    prostatic adenoma    vein disease    deep vein thrombosis
    thrombophilia    prostatic hypertrophy    vitamin k deficiency hemorrhagic disease    thrombophlebitis
    hemorrhagic disease    varicose veins    prostate disease    alcoholic hepatitis
    thrombosis    prostate adenocarcinoma    essential thrombocythemia    pulmonary embolism

    17 diseases from the University of Copenhagen DISEASES database for PROS1:
    Thrombophilia     Blood protein disease     Protein C deficiency     Antithrombin III deficiency
    Antiphospholipid syndrome     Pulmonary embolism     Hyperhomocysteinemia     Portal vein thrombosis
    Hemorrhagic disease     Cerebrovascular accident     Lupus erythematosus     Chickenpox
    Placental abruption     Sagittal sinus thrombosis     Hepatic vein thrombosis     Hypertension
    Vasculitis

    PROS1 for disorders           About GeneDecksing

    10/24 Novoseek inferred disease relationships for PROS1 gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    protein s deficiency 88.9 38 17938802 (3), 16363235 (3), 18322254 (3), 9657428 (2) (see all 25)
    prostate cancer 78.1 136 12746846 (6), 8694557 (5), 11744475 (4), 15389786 (4) (see all 59)
    prostate carcinoma 45.8 9 11555588 (3), 9105163 (1), 7504042 (1)
    chronic prostatitis 44.1 7 17009527 (3), 15978235 (1), 20450358 (1)
    prostatitis 38.2 5 20450358 (3), 15389786 (1)
    venous thrombosis 37.1 3 20200160 (1), 12529748 (1), 17157360 (1)
    cancer 32.3 33 10628358 (2), 18243505 (2), 18272471 (1), 18678846 (1) (see all 25)
    deep vein thrombosis 31.4 5 17938802 (2), 18954896 (1), 20022358 (1), 16868938 (1)
    prostatic adenocarcinoma 30.5 3 16829479 (1), 16988533 (1)
    thrombosis 30.3 7 10706858 (2), 10607700 (1), 11297755 (1), 10790208 (1) (see all 6)

    Genatlas disease: PROS1
    thrombosis,recurrent (pro-S deficiency),types I with reduced level of antigen and activity,type II with normal
    antigen level,reduced activity but excluding most cases of type III

    Genetic Association Database (GAD): PROS1
    Human Genome Epidemiology (HuGE) Navigator: PROS1 (13 documents)

    Export disorders for PROS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PROS1 gene, integrated from 9 sources (see all 416):
    (articles sorted by number of sources associating them with PROS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency. (PubMed id 17938802)1, 4, 9 Yin T....Miyata T. (2007)
    2. PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations. (PubMed id 18435454)1, 4, 9 Ten Kate M.K....van der Meer J. (2008)
    3. Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency. (PubMed id 10447256)1, 2, 9 Espinosa-Parrilla Y.... Sala N. (1999)
    4. Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families. (PubMed id 11776305)1, 2, 9 Andersen B.D....Thorsen S. (2001)
    5. Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. (PubMed id 18954896)1, 4, 9 Miyata T....Ikeda Y. (2008)
    6. The association of protein S Tokushima-K196E with a r isk of deep vein thrombosis. (PubMed id 20811787)1, 4 Ikejiri M....Nobori T. (2010)
    7. Intracerebral mass bleeding in a term neonate: manife station of hereditary protein S deficiency with a new mutation in the PROS1 gen e. (PubMed id 20484936)1, 2 Fischer D....Schloesser R.L. (2010)
    8. Identification of fetal and maternal single nucleotid e polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)1, 4 Romero R....Menon R. (2010)
    9. A genetic association study of maternal and fetal can didate genes that predispose to preterm prelabor rupture of membranes (PROM). (PubMed id 20673868)1, 4 Romero R....Menon R. (2010)
    10. Multi-ethnic genetic association study of carotid int ima-media thickness using a targeted cardiovascular SNP microarray. (PubMed id 19679847)1, 4 Lanktree M.B....Anand S.S. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5627 HGNC: 9456 AceView: PROS1 Ensembl:ENSG00000184500 euGenes: HUgn5627
    ECgene: PROS1 Kegg: 5627 H-InvDB: PROS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PROS1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PROS1
    SeattleSNPshttp://pga.gs.washington.edu/data/pros1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PROS1 gene:
    Search GeneIP for patents involving PROS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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