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Aliases for PROS1 Gene

Aliases for PROS1 Gene

  • Protein S (Alpha) 2 3 5
  • PROS 3 4
  • Vitamin K-Dependent Plasma Protein S 3
  • Protein Sa 3
  • EC 3.4.21 63
  • THPH5 3
  • THPH6 3
  • 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 (Alpha)) 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 Platelet activation, signaling and aggregation and Formation of Fibrin Clot (Clotting Cascade). 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 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PROS1 Gene

Genomics for PROS1 Gene

Regulatory Elements for PROS1 Gene

Promoters for PROS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PROS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PROS1 Gene

Chromosome:
3
Start:
93,873,033 bp from pter
End:
93,974,090 bp from pter
Size:
101,058 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

Proteomics data for PROS1 Gene at MOPED

Selected DME Specific Peptides for PROS1 Gene

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 Asn 499, Asn 509, and Asn 530
  • Modification sites at PhosphoSitePlus

Other Protein References for PROS1 Gene

Antibody Products

  • R&D Systems Antibodies for PROS1 (Protein S/PROS1)

Domains & Families for PROS1 Gene

Gene Families for PROS1 Gene

Graphical View of Domain Structure for InterPro Entry

P07225

UniProtKB/Swiss-Prot:

PROS_HUMAN :
  • Contains 4 EGF-like domains.
Domain:
  • Contains 4 EGF-like domains.
  • Contains 1 Gla (gamma-carboxy-glutamate) domain.
  • Contains 2 laminin G-like domains.
genes like me logo Genes that share domains with PROS1: view

Function for PROS1 Gene

Molecular function for PROS1 Gene

GENATLAS Biochemistry:
protein S,alpha coagulation factor (cofactor of proC),vitamin K-dependent,ligand for TYRO3,AXL family of receptor tyrosine kinase
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.

Enzyme Numbers (IUBMB) for PROS1 Gene

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:

Animal Model Products

miRNA for PROS1 Gene

miRTarBase miRNAs that target PROS1

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for PROS1 Gene COMPARTMENTS Subcellular localization image for PROS1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
plasma membrane 5
nucleus 3
cytosol 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PROS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with PROS1: view

Pathways & Interactions for PROS1 Gene

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

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:0010951 negative regulation of endopeptidase activity TAS 8146182
GO:0017187 peptidyl-glutamic acid carboxylation TAS --
GO:0030449 regulation of complement activation TAS --
GO:0042730 fibrinolysis IEA --
genes like me logo Genes that share ontologies with PROS1: view

Drugs & Compounds for PROS1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Menadione Approved Nutra inhibitor, Target, activator 199
Sodium Tetradecyl Sulfate Approved Pharma Target, inhibitor 5
Drotrecogin alfa Approved, Investigational, Withdrawn Pharma Target 0
Drospirenone Approved Pharma Antagonist 92
Ethinyl Estradiol Approved Pharma Oral contraceptive 659

(12) 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

Unigene Clusters for PROS1 Gene

Protein S (alpha):
Representative Sequences:

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

No ASD Table

Relevant External Links for PROS1 Gene

GeneLoc Exon Structure for
PROS1
ECgene alternative splicing isoforms for
PROS1

Expression for PROS1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for PROS1 Gene



SOURCE GeneReport for Unigene cluster for PROS1 Gene Hs.64016

mRNA Expression by UniProt/SwissProt for PROS1 Gene

P07225-PROS_HUMAN
Tissue specificity: Plasma.
genes like me logo Genes that share expression patterns with PROS1: view

Protein tissue co-expression partners for PROS1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PROS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PROS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PROS1 35
  • 87.6 (n)
  • 82.07 (a)
PROS1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PROS1 35
  • 81.05 (n)
  • 77.49 (a)
PROS1 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pros1 35
  • 82.2 (n)
  • 79.82 (a)
Pros1 16
Pros1 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PROS1 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PROS1 36
  • 65 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PROS1 36
  • 99 (a)
OneToOne
PROS1 35
  • 99.65 (n)
  • 99.41 (a)
rat
(Rattus norvegicus)
Mammalia Pros1 35
  • 83.43 (n)
  • 80.42 (a)
chicken
(Gallus gallus)
Aves PROS1 35
  • 70.44 (n)
  • 64.86 (a)
PROS1 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PROS1 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pros1 35
  • 64.53 (n)
  • 61.31 (a)
zebrafish
(Danio rerio)
Actinopterygii pros1 35
  • 55.11 (n)
  • 53.99 (a)
pros1 36
  • 50 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 18 (a)
ManyToMany
-- 36
  • 34 (a)
ManyToMany
Species with no ortholog for PROS1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for PROS1 Gene

Paralogs for PROS1 Gene

Pseudogenes.org Pseudogenes for PROS1 Gene

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

Variants for PROS1 Gene

Sequence variations from dbSNP and Humsavar for PROS1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs121918474 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) 93,905,799(-) CAAAT(A/G)AGAAA reference, missense
VAR_005567 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
rs121918472 -, Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) 93,879,306(-) ATGTA(C/G/T)CCAGT reference, missense
VAR_014116 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
VAR_014117 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)

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

Variant ID Type Subtype PubMed ID
nsv834764 CNV Loss 17160897
nsv877161 CNV Gain 21882294
esv2657355 CNV Deletion 23128226

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)

Relevant External Links for PROS1 Gene

HapMap Linkage Disequilibrium report
PROS1
Human Gene Mutation Database (HGMD)
PROS1

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

Disorders for PROS1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for PROS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thrombophilia due to protein s deficiency, autosomal recessive
  • thrombophilia autosomal recessive due to protein s deficiency
thrombophilia due to protein s deficiency, autosomal dominant
  • thrombophilia autosomal dominant due to protein s deficiency
hereditary thrombophilia due to congenital protein s deficiency
protein s deficiency
  • protein s deficiency disease
thrombophilia
  • hypercoagulability state
- 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: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 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. {ECO:0000269 PubMed:20484936}. Note=The disease is caused by mutations 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

Relevant External Links for PROS1

Genetic Association Database (GAD)
PROS1
Human Genome Epidemiology (HuGE) Navigator
PROS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PROS1
genes like me logo Genes that share disorders with PROS1: view

Publications for PROS1 Gene

  1. A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency. (PMID: 17938802) Yin T. … Miyata T. (Thromb. Haemost. 2007) 3 23 48 67
  2. Down-regulation of PROS1 gene expression by 17beta-estradiol via estrogen receptor alpha (ERalpha)-Sp1 interaction recruiting receptor-interacting protein 140 and the corepressor-HDAC3 complex. (PMID: 20200160) Suzuki A. … Kojima T. (J. Biol. Chem. 2010) 3 23
  3. Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency. (PMID: 19466456) Pintao M.C. … Reitsma P.H. (Hum. Genet. 2009) 3 23
  4. In vitro effects of detergent sclerosants on antithrombotic mechanisms. (PMID: 19442540) Parsi K. … Joseph J.E. (Eur J Vasc Endovasc Surg 2009) 25 26
  5. Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency. (PMID: 18322254) Hurtado B. … Sala N. (Haematologica 2008) 3 23

Products for PROS1 Gene

Sources for PROS1 Gene

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