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... See more...

Aliases for PROS1 Gene

Aliases for PROS1 Gene

  • Protein S 2 3 5
  • Vitamin K-Dependent Protein S 3 4
  • Protein S (Alpha) 2 3
  • PROS 3 4
  • Vitamin K-Dependent Plasma Protein S 3
  • Protein Sa 3
  • EC 3.4.21 50
  • THPH5 3
  • THPH6 3
  • PROS1 5
  • PS21 3
  • PS22 3
  • PS23 3
  • PS24 3
  • PS25 3
  • PSA 3

External Ids for PROS1 Gene

Previous HGNC Symbols for PROS1 Gene

  • PROS

Previous GeneCards Identifiers for PROS1 Gene

  • GC03P090396
  • GC03M092806
  • GC03M090130
  • GC03M094912
  • GC03M095074
  • GC03M093591
  • GC03M090954

Summaries for PROS1 Gene

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. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]

GeneCards Summary for PROS1 Gene

PROS1 (Protein S) is a Protein Coding gene. Diseases associated with PROS1 include Thrombophilia Due To Protein S Deficiency, Autosomal Recessive and Thrombophilia Due To Protein S Deficiency, Autosomal Dominant. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Formation of Fibrin Clot (Clotting Cascade). Gene Ontology (GO) annotations related to this gene include calcium ion binding and endopeptidase inhibitor activity. An important paralog of this gene is SHBG.

UniProtKB/Swiss-Prot Summary for PROS1 Gene

  • 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 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PROS1 Gene

Genomics for PROS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PROS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J093972 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 258.6 +6.3 6295 2.2 NCOR1 ZNF600 IKZF1 ZNF592 CEBPA ZNF10 ATF3 POLR2A ZIC2 YY1 PROS1 lnc-STX19-1 ENSG00000201339 HSALNG0027332
GH03J093979 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.8 -797 2.8 SP1 ZNF207 ZNF600 IKZF1 POLR2A BRCA1 YY1 MXD4 KLF11 SMAD5 ARL13B HSALNG0027333 PROS1 NSUN3 RBBP4P2 DHFR2 lnc-PROS1-1 STX19
GH03J093969 Enhancer 0.8 Ensembl ENCODE 9.2 +10.4 10402 1.6 NFATC3 TAL1 PKNOX1 TCF12 DPF2 ARID1B ZNF366 SMARCE1 OSR2 HMBOX1 ENSG00000201339 PROS1 lnc-STX19-1 HSALNG0027332
GH03J094011 Enhancer 0.3 Ensembl 18.7 -31.8 -31798 1.6 HLF PROS1 ARL13B RNU6-511P HSALNG0027335 STX19
GH03J094068 Enhancer 0.5 Ensembl 10.3 -89.2 -89198 0.8 ZNF654 CTCF TRIM22 RAD21 SMC3 ARID3A PROS1 ARL13B RNU6-511P DHFR2 NSUN3 lnc-ARL13B-1 HSALNG0027339
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PROS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PROS1

Top Transcription factor binding sites by QIAGEN in the PROS1 gene promoter:
  • AML1a
  • ATF6
  • C/EBPalpha
  • FOXD3
  • FOXF2
  • PPAR-gamma1
  • PPAR-gamma2
  • Sp1

Genomic Locations for PROS1 Gene

Latest Assembly
chr3:93,873,051-93,980,003
(GRCh38/hg38)
Size:
106,953 bases
Orientation:
Minus strand

Previous Assembly
chr3:93,591,895-93,692,740
(GRCh37/hg19 by Entrez Gene)
Size:
100,846 bases
Orientation:
Minus strand

chr3:93,591,881-93,692,910
(GRCh37/hg19 by Ensembl)
Size:
101,030 bases
Orientation:
Minus strand

Genomic View for PROS1 Gene

Genes around PROS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PROS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PROS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PROS1 Gene

Proteins for PROS1 Gene

  • Protein details for PROS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07225-PROS_HUMAN
    Recommended name:
    Vitamin K-dependent protein S
    Protein Accession:
    P07225
    Secondary Accessions:
    • A8KAC9
    • D3DN28
    • Q15518
    • Q7Z715
    • Q9UCZ8

    Protein attributes for PROS1 Gene

    Size:
    676 amino acids
    Molecular mass:
    75123 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAP45054.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PROS1 Gene

neXtProt entry for PROS1 Gene

Selected DME Specific Peptides for PROS1 Gene

P07225:
  • ERECIEE
  • GNLEREC

Post-translational modifications for PROS1 Gene

  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
  • Glycosylation at Asn499, Asn509, and Asn530
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for PROS1 Gene

Gene Families for PROS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for PROS1 Gene

InterPro:
Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
  • Thrombospondin, N-terminal
  • Laminin G
  • Laminin G, subdomain 1
  • Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
  • Coagulation factor GLA domain signature

Suggested Antigen Peptide Sequences for PROS1 Gene

GenScript: Design optimal peptide antigens:
  • Vitamin K-dependent protein S (PROS_HUMAN)
  • Protein S alpha variant (Q06F34_HUMAN)
  • Truncated protein S alpha variant (Q06F35_HUMAN)
  • PROS1 protein (Q16441_HUMAN)
  • Protein S (Q16519_HUMAN)
genes like me logo Genes that share domains with PROS1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PROS1 Gene

Function for PROS1 Gene

Molecular function for PROS1 Gene

UniProtKB/Swiss-Prot 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:
protein S,alpha coagulation factor (cofactor of proC),vitamin K-dependent,ligand for TYRO3,AXL family of receptor tyrosine kinase

Enzyme Numbers (IUBMB) for PROS1 Gene

Phenotypes From GWAS Catalog for PROS1 Gene

Gene Ontology (GO) - Molecular Function for PROS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity TAS 8146182
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 32814053
genes like me logo Genes that share ontologies with PROS1: view
genes like me logo Genes that share phenotypes with PROS1: view

Human Phenotype Ontology for PROS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PROS1 Gene

MGI Knock Outs for PROS1:

miRNA for PROS1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PROS1

No data available for Transcription Factor Targets and HOMER Transcription for PROS1 Gene

Localization for PROS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PROS1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PROS1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 4
nucleus 3
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PROS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IBA,IDA 14607961
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with PROS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PROS1 Gene

Pathways & Interactions for PROS1 Gene

genes like me logo Genes that share pathways with PROS1: view

Pathways by source for PROS1 Gene

1 KEGG pathway for PROS1 Gene
1 R&D Systems pathway for PROS1 Gene
3 Qiagen pathways for PROS1 Gene
  • Blood Coagulation Cascade
  • Extrinsic Prothrombin Activation Pathway
  • Intrinsic Prothrombin Activation Pathway

SIGNOR curated interactions for PROS1 Gene

Activates:

Gene Ontology (GO) - Biological Process for PROS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007596 blood coagulation TAS --
GO:0007599 hemostasis IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
genes like me logo Genes that share ontologies with PROS1: view

Drugs & Compounds for PROS1 Gene

(30) Drugs for PROS1 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Menadione Approved Nutra Target, activator, inhibitor 346
Sodium Tetradecyl Sulfate Approved, Investigational Pharma Target, inhibitor 11
Drotrecogin alfa Approved, Investigational, Withdrawn Pharma Target 0
Kappadione Approved Pharma Target, agonist 0
avatrombopag Approved, Investigational Pharma 0

(9) Additional Compounds for PROS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PROS1: view

Transcripts for PROS1 Gene

mRNA/cDNA for PROS1 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PROS1

Alternative Splicing Database (ASD) splice patterns (SP) for PROS1 Gene

No ASD Table

Relevant External Links for PROS1 Gene

GeneLoc Exon Structure for
PROS1

Expression for PROS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PROS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PROS1 Gene

This gene is overexpressed in Liver (x7.4) and Artery - Aorta (x4.6).

Protein differential expression in normal tissues from HIPED for PROS1 Gene

This gene is overexpressed in Serum (20.1), Plasma (20.1), and Synovial fluid (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PROS1 Gene



Protein tissue co-expression partners for PROS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PROS1

SOURCE GeneReport for Unigene cluster for PROS1 Gene:

Hs.64016

mRNA Expression by UniProt/SwissProt for PROS1 Gene:

P07225-PROS_HUMAN
Tissue specificity: Plasma.

Evidence on tissue expression from TISSUES for PROS1 Gene

  • Liver(4.6)
  • Bone marrow(4.4)
  • Blood(2.7)
  • Heart(2.7)
  • Skin(2.7)
  • Muscle(2.6)
  • Kidney(2.4)
  • Nervous system(2.4)
  • Spleen(2.4)
  • Lung(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PROS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
Thorax:
  • heart
  • lung
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with PROS1: view

Primer products for research

Orthologs for PROS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PROS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PROS1 29 30
  • 99.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PROS1 29 30
  • 87.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pros1 29
  • 83.43 (n)
Mouse
(Mus musculus)
Mammalia Pros1 29 16 30
  • 82.2 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PROS1 29 30
  • 81.05 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PROS1 30
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PROS1 30
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PROS1 29 30
  • 70.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PROS1 30
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pros1 29
  • 64.53 (n)
Zebrafish
(Danio rerio)
Actinopterygii pros1 29 30
  • 55.11 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 34 (a)
ManyToMany
-- 30
  • 18 (a)
ManyToMany
Species where no ortholog for PROS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PROS1 Gene

ENSEMBL:
Gene Tree for PROS1 (if available)
TreeFam:
Gene Tree for PROS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PROS1: view image
Alliance of Genome Resources:
Additional Orthologs for PROS1

Paralogs for PROS1 Gene

Paralogs for PROS1 Gene

(50) SIMAP similar genes for PROS1 Gene using alignment to 32 proteins:

  • PROS_HUMAN
  • C9K0R0_HUMAN
  • G5E9F8_HUMAN
  • H7BXT0_HUMAN
  • Q06F34_HUMAN
  • Q06F35_HUMAN
  • Q16441_HUMAN
  • Q16519_HUMAN
  • Q1W146_HUMAN
  • Q1W147_HUMAN
  • Q1W148_HUMAN
  • Q2EGA0_HUMAN
  • Q6BCZ9_HUMAN
  • Q6J1N0_HUMAN
  • Q7KYZ1_HUMAN
  • Q86Z10_HUMAN
  • Q8IU87_HUMAN
  • Q8IVH1_HUMAN
  • Q8IXC3_HUMAN
  • Q8IXC4_HUMAN
  • Q8IXC5_HUMAN
  • Q8IXC6_HUMAN
  • Q8IXC8_HUMAN
  • Q8IXC9_HUMAN
  • Q8IXD0_HUMAN
  • Q8IXD1_HUMAN
  • Q8IXD2_HUMAN
  • Q8IXD3_HUMAN
  • Q8IXD4_HUMAN
  • Q8IXD5_HUMAN
  • Q8J010_HUMAN
  • Q8J011_HUMAN

Pseudogenes.org Pseudogenes for PROS1 Gene

genes like me logo Genes that share paralogs with PROS1: view

Variants for PROS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PROS1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1002628 Uncertain Significance: Thrombophilia due to protein S deficiency, autosomal recessive 93,927,365(-) C/T
NM_000313.4(PROS1):c.119G>A (p.Arg40His)
MISSENSE
1013485 Uncertain Significance: not provided 93,924,234(-) A/G
NM_000313.4(PROS1):c.259+6T>C
INTRON
1015333 Uncertain Significance: Thrombophilia due to protein S deficiency, autosomal recessive 93,879,243(-) C/T
NM_000313.4(PROS1):c.1564G>A (p.Val522Ile)
MISSENSE
1017210 Uncertain Significance: Thrombophilia due to protein S deficiency, autosomal recessive 93,874,295(-) T/C
NM_000313.4(PROS1):c.1981A>G (p.Ile661Val)
MISSENSE
1017349 Uncertain Significance: Thrombophilia due to protein S deficiency, autosomal recessive 93,905,819(-) C/T
NM_000313.4(PROS1):c.566G>A (p.Gly189Asp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PROS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PROS1 Gene

Variant ID Type Subtype PubMed ID
dgv4813n100 CNV gain 25217958
dgv4814n100 CNV gain 25217958
esv2657355 CNV deletion 23128226
esv3597011 CNV loss 21293372
esv3893746 CNV loss 25118596
nsv1008057 CNV gain 25217958
nsv834764 CNV loss 17160897
nsv965186 CNV duplication 23825009
nsv965187 CNV duplication 23825009
nsv979855 CNV duplication 23825009
nsv979856 CNV duplication 23825009

Variation tolerance for PROS1 Gene

Residual Variation Intolerance Score: 38.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.85; 48.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PROS1 Gene

Human Gene Mutation Database (HGMD)
PROS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PROS1
Leiden Open Variation Database (LOVD)
PROS1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PROS1 Gene

Disorders for PROS1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for PROS1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
thrombophilia due to protein s deficiency, autosomal recessive
  • thph6
thrombophilia due to protein s deficiency, autosomal dominant
  • thph5
protein s deficiency
  • protein s deficiency disease
thrombophilia
  • hypercoagulability state
thrombosis
  • thrombosis of blood vessel
- elite association - COSMIC cancer census association via MalaCards
Search PROS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PROS_HUMAN
  • 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. {ECO:0000269 PubMed:10447256, ECO:0000269 PubMed:10613647, ECO:0000269 PubMed:10706858, ECO:0000269 PubMed:10790208, ECO:0000269 PubMed:11372770, ECO:0000269 PubMed:11776305, ECO:0000269 PubMed:11858485, ECO:0000269 PubMed:11927129, ECO:0000269 PubMed:12351389, ECO:0000269 PubMed:12632031, ECO:0000269 PubMed:15238143, ECO:0000269 PubMed:15712227, ECO:0000269 PubMed:18322254, ECO:0000269 PubMed:7482398, ECO:0000269 PubMed:7545463, ECO:0000269 PubMed:7579449, ECO:0000269 PubMed:7803790, ECO:0000269 PubMed:8298131, ECO:0000269 PubMed:8639833, ECO:0000269 PubMed:8701404, ECO:0000269 PubMed:8765219, ECO:0000269 PubMed:8781426, ECO:0000269 PubMed:8943854, ECO:0000269 PubMed:8977443, ECO:0000269 PubMed:9031443, ECO:0000269 PubMed:9241758, ECO:0000269 Ref.15}. Note=The disease is caused by variants 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. {ECO:0000269 PubMed:20484936}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for PROS1 Gene

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

Additional Disease Information for PROS1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PROS1: view

Publications for PROS1 Gene

  1. Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency. (PMID: 19466456) Pintao MC … Reitsma PH (Human genetics 2009) 3 22 72
  2. Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency. (PMID: 18322254) Hurtado B … Sala N (Haematologica 2008) 3 4 22
  3. PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations. (PMID: 18435454) Ten Kate MK … van der Meer J (Human mutation 2008) 3 22 40
  4. A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency. (PMID: 17938802) Yin T … Miyata T (Thrombosis and haemostasis 2007) 3 22 40
  5. Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families. (PMID: 11776305) Andersen BD … Thorsen S (Thrombosis and haemostasis 2001) 3 4 22

Products for PROS1 Gene

Sources for PROS1 Gene