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Entry version 240 (07 Oct 2020)
Sequence version 1 (01 Apr 1988)
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Protein

Vitamin K-dependent protein S

Gene

PROS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei499Not glycosylated; in variant Heerlen1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processBlood coagulation, Fibrinolysis, Hemostasis
LigandCalcium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
P07225

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-114608, Platelet degranulation
R-HSA-140837, Intrinsic Pathway of Fibrin Clot Formation
R-HSA-140875, Common Pathway of Fibrin Clot Formation
R-HSA-159740, Gamma-carboxylation of protein precursors
R-HSA-159763, Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
R-HSA-159782, Removal of aminoterminal propeptides from gamma-carboxylated proteins
R-HSA-202733, Cell surface interactions at the vascular wall
R-HSA-977606, Regulation of Complement cascade

SIGNOR Signaling Network Open Resource

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SIGNORi
P07225

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Vitamin K-dependent protein S
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PROS1
Synonyms:PROS
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000184500.14

Human Gene Nomenclature Database

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HGNCi
HGNC:9456, PROS1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
176880, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P07225

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)27 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04680215L → H in THPH5; reduced mutant protein levels and secretion. 2 Publications1
Natural variantiVAR_04680318V → E in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication1
Natural variantiVAR_04680440R → L in THPH5. 1 PublicationCorresponds to variant dbSNP:rs7614835EnsemblClinVar.1
Natural variantiVAR_04680541R → H in THPH5. 1 PublicationCorresponds to variant dbSNP:rs963668412Ensembl.1
Natural variantiVAR_04680650K → E in THPH5. 1 PublicationCorresponds to variant dbSNP:rs748630360EnsemblClinVar.1
Natural variantiVAR_04680752G → 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 Publication1
Natural variantiVAR_04680867E → A in THPH5. 4 PublicationsCorresponds to variant dbSNP:rs766423432Ensembl.1
Natural variantiVAR_04680968A → D in THPH5. 1 Publication1
Natural variantiVAR_04681072F → C in THPH5. 1 Publication1
Natural variantiVAR_01466678T → 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 PublicationsCorresponds to variant dbSNP:rs6122EnsemblClinVar.1
Natural variantiVAR_04681287V → L in THPH5. 1 PublicationCorresponds to variant dbSNP:rs557733421Ensembl.1
Natural variantiVAR_04681388C → Y in THPH5. 1 Publication1
Natural variantiVAR_04681490R → C in THPH5; produces around 50% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 PublicationCorresponds to variant dbSNP:rs765935815Ensembl.1
Natural variantiVAR_04681590R → H in THPH5. 1 PublicationCorresponds to variant dbSNP:rs200886866Ensembl.1
Natural variantiVAR_04681695G → E in THPH5. 1 PublicationCorresponds to variant dbSNP:rs144526169EnsemblClinVar.1
Natural variantiVAR_04681795G → R in THPH5; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. 2 Publications1
Natural variantiVAR_046819101R → C in THPH5. 1 PublicationCorresponds to variant dbSNP:rs778731080Ensembl.1
Natural variantiVAR_046820111R → S in THPH5. 1 Publication1
Natural variantiVAR_046821121C → Y in THPH5. 1 Publication1
Natural variantiVAR_046822129D → G in THPH5. 2 PublicationsCorresponds to variant dbSNP:rs749024073Ensembl.1
Natural variantiVAR_046823144T → N in THPH5. 3 PublicationsCorresponds to variant dbSNP:rs146366248EnsemblClinVar.1
Natural variantiVAR_046824149W → C in THPH5. 1 Publication1
Natural variantiVAR_046825157D → G in THPH5. 1 PublicationCorresponds to variant dbSNP:rs751090951Ensembl.1
Natural variantiVAR_046826161C → G in THPH5. 1 Publication1
Natural variantiVAR_046827166N → Y in THPH5. 1 Publication1
Natural variantiVAR_046829175C → F in THPH5. 2 Publications1
Natural variantiVAR_046830186C → Y in THPH5. 2 PublicationsCorresponds to variant dbSNP:rs779391826Ensembl.1
Natural variantiVAR_005566196K → 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 PublicationsCorresponds to variant dbSNP:rs121918474EnsemblClinVar.1
Natural variantiVAR_046831204E → G in THPH5. 1 Publication1
Natural variantiVAR_046833241C → S in THPH5. 1 Publication1
Natural variantiVAR_046834243D → N in THPH5. 1 Publication1
Natural variantiVAR_046835245D → G in THPH5. 1 PublicationCorresponds to variant dbSNP:rs1211117206Ensembl.1
Natural variantiVAR_046836247C → G in THPH5. 1 Publication1
Natural variantiVAR_046837249E → K in THPH5. 1 PublicationCorresponds to variant dbSNP:rs1455675811Ensembl.1
Natural variantiVAR_005567258N → S in THPH5; produces around 30% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 3 PublicationsCorresponds to variant dbSNP:rs121918473EnsemblClinVar.1
Natural variantiVAR_046838265C → R in THPH5. 1 Publication1
Natural variantiVAR_046839265C → W in THPH5. 1 Publication1
Natural variantiVAR_046840266Y → C in THPH5. 1 PublicationCorresponds to variant dbSNP:rs777616039Ensembl.1
Natural variantiVAR_046841267C → S in THPH5. 1 Publication1
Natural variantiVAR_046842300L → P in THPH5. 1 Publication1
Natural variantiVAR_046843324S → P in THPH5. 1 Publication1
Natural variantiVAR_046844336G → D in THPH5. 1 Publication1
Natural variantiVAR_046845336G → S in THPH5. 1 Publication1
Natural variantiVAR_046846336G → V in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication1
Natural variantiVAR_046847339L → P in THPH5. 1 Publication1
Natural variantiVAR_046848351L → P in THPH5. 1 Publication1
Natural variantiVAR_046849355R → H in THPH5. 1 PublicationCorresponds to variant dbSNP:rs780863931Ensembl.1
Natural variantiVAR_046850357G → R in THPH5. 1 PublicationCorresponds to variant dbSNP:rs941433523Ensembl.1
Natural variantiVAR_046851364K → E in THPH5. 1 Publication1
Natural variantiVAR_046852376D → N in THPH5. 1 Publication1
Natural variantiVAR_046853381G → D in THPH5. 1 PublicationCorresponds to variant dbSNP:rs1223579199Ensembl.1
Natural variantiVAR_046854381G → V in THPH5. 1 Publication1
Natural variantiVAR_046855383W → R in THPH5. 1 Publication1
Natural variantiVAR_046857390E → K in THPH5. 1 Publication1
Natural variantiVAR_046858446L → P in THPH5. 2 Publications1
Natural variantiVAR_046859449C → S in THPH5. 1 Publication1
Natural variantiVAR_046860475C → R in THPH5. 1 Publication1
Natural variantiVAR_014116482G → C in THPH5. 1 Publication1
Natural variantiVAR_014117485Y → C in THPH5. 1 PublicationCorresponds to variant dbSNP:rs1323663956Ensembl.1
Natural variantiVAR_046862501S → A in THPH5. 1 PublicationCorresponds to variant dbSNP:rs121918472EnsemblClinVar.1
Natural variantiVAR_046863508V → G in THPH5. 1 Publication1
Natural variantiVAR_046864508V → M in THPH5. 1 Publication1
Natural variantiVAR_046865515R → 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 PublicationsCorresponds to variant dbSNP:rs199469500EnsemblClinVar.1
Natural variantiVAR_046866515R → P in THPH5. 2 Publications1
Natural variantiVAR_046867521G → D in THPH5. 1 Publication1
Natural variantiVAR_046868525A → P in THPH5. 1 Publication1
Natural variantiVAR_046869526L → S in THPH5. 1 Publication1
Natural variantiVAR_046870532T → A in THPH5. 1 PublicationCorresponds to variant dbSNP:rs371028997EnsemblClinVar.1
Natural variantiVAR_046871552L → S in THPH5. 1 Publication1
Natural variantiVAR_014119561R → G in THPH5. 1 PublicationCorresponds to variant dbSNP:rs121918476EnsemblClinVar.1
Natural variantiVAR_046872562I → L in THPH5; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs1380889353Ensembl.1
Natural variantiVAR_046873568C → Y in THPH5. 1 Publication1
Natural variantiVAR_046874575L → R in THPH5. 1 Publication1
Natural variantiVAR_046876584L → Q in THPH5. 1 Publication1
Natural variantiVAR_046877611M → K in THPH5. 1 Publication1
Natural variantiVAR_046878611M → T in THPH5. 3 PublicationsCorresponds to variant dbSNP:rs750531364Ensembl.1
Natural variantiVAR_046879616A → P in THPH5. 1 Publication1
Natural variantiVAR_046880622L → R in THPH5. 1 Publication1
Natural variantiVAR_046881630T → I in THPH5; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. 1 PublicationCorresponds to variant dbSNP:rs202190731Ensembl.1
Natural variantiVAR_046882636Y → C in THPH5; shows intracellular degradation and decreased secretion. 1 PublicationCorresponds to variant dbSNP:rs368173480EnsemblClinVar.1
Natural variantiVAR_046883638G → D in THPH5. 2 Publications1
Natural variantiVAR_046884639C → F in THPH5. 1 Publication1
Natural variantiVAR_046885639C → Y in THPH5. 1 Publication1
Natural variantiVAR_046886640M → T in THPH5; does not affect protein levels; the mutant is secreted at lower levels compared to wild-type. 2 Publications1
Natural variantiVAR_046887644I → S in THPH5. 1 Publication1
Natural variantiVAR_046888664H → P in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication1
Natural variantiVAR_046889665S → L in THPH5. 1 PublicationCorresponds to variant dbSNP:rs778685576Ensembl.1
Natural variantiVAR_046890666C → R in THPH5. 4 PublicationsCorresponds to variant dbSNP:rs1302089144EnsemblClinVar.1
Natural variantiVAR_046891667P → L in THPH5. 2 PublicationsCorresponds to variant dbSNP:rs1220553873Ensembl.1
Thrombophilia due to protein S deficiency, autosomal recessive (THPH6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067302234Y → C in THPH6. 1 PublicationCorresponds to variant dbSNP:rs387906675EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi515R → A or E: Markedly reduced secretion of the mutant. 1 Publication1
Mutagenesisi515R → K: No change in secretion of the mutant. 1 Publication1

Keywords - Diseasei

Disease mutation, Thrombophilia

Organism-specific databases

DisGeNET

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DisGeNETi
5627

MalaCards human disease database

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MalaCardsi
PROS1
MIMi612336, phenotype
614514, phenotype

Open Targets

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OpenTargetsi
ENSG00000184500

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
64738, NON RARE IN EUROPE: Non rare thrombophilia
743, Severe hereditary thrombophilia due to congenital protein S deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33809

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
P07225, Tbio

Chemistry databases

Drug and drug target database

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DrugBanki
DB00055, Drotrecogin alfa
DB09332, Kappadione
DB00170, Menadione
DB00464, Sodium tetradecyl sulfate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PROS1

Domain mapping of disease mutations (DMDM)

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DMDMi
131086

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 24Add BLAST24
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000002211925 – 41Add BLAST17
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002212042 – 676Vitamin K-dependent protein SAdd BLAST635

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei474-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei484-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei554-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei574-carboxyglutamatePROSITE-ProRule annotation1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi58 ↔ 63By similarity
Modified residuei604-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei614-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei664-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei674-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei704-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei734-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Modified residuei774-carboxyglutamatePROSITE-ProRule annotation1 Publication1
Disulfide bondi121 ↔ 134By similarity
Disulfide bondi126 ↔ 143By similarity
Modified residuei136(3R)-3-hydroxyaspartateBy similarity1
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
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi499N-linked (GlcNAc...) asparagine1
Glycosylationi509N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi530N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi639 ↔ 666By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

The CPTAC Assay portal

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CPTACi
non-CPTAC-2705

Encyclopedia of Proteome Dynamics

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EPDi
P07225

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P07225

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P07225

MaxQB - The MaxQuant DataBase

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MaxQBi
P07225

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P07225

PeptideAtlas

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PeptideAtlasi
P07225

PRoteomics IDEntifications database

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PRIDEi
P07225

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
51975

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
2090, 1 N-Linked glycan (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
P07225, 5 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P07225

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P07225

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Plasma.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000184500, Expressed in choroid plexus epithelium and 237 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P07225, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P07225, HS

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000184500, Tissue enhanced (liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
111611, 18 interactors

Protein interaction database and analysis system

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IntActi
P07225, 11 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000377783

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
P07225, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1676
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P07225

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P07225

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini42 – 87GlaPROSITE-ProRule annotationAdd BLAST46
Domaini117 – 155EGF-like 1PROSITE-ProRule annotationAdd BLAST39
Domaini157 – 200EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST44
Domaini201 – 242EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini243 – 283EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini299 – 475Laminin G-like 1PROSITE-ProRule annotationAdd BLAST177
Domaini484 – 666Laminin G-like 2PROSITE-ProRule annotationAdd BLAST183

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni88 – 116Thrombin-sensitiveAdd BLAST29

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502QSNF, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000154035

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_026236_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P07225

KEGG Orthology (KO)

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KOi
K03908

Identification of Orthologs from Complete Genome Data

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OMAi
AGCNQKC

Database of Orthologous Groups

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OrthoDBi
317733at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P07225

TreeFam database of animal gene trees

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TreeFami
TF352157

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
4.10.740.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR017857, Coagulation_fac-like_Gla_dom
IPR013320, ConA-like_dom_sf
IPR001881, EGF-like_Ca-bd_dom
IPR000742, EGF-like_dom
IPR000152, EGF-type_Asp/Asn_hydroxyl_site
IPR018097, EGF_Ca-bd_CS
IPR035972, GLA-like_dom_SF
IPR000294, GLA_domain
IPR009030, Growth_fac_rcpt_cys_sf
IPR001791, Laminin_G
IPR033189, PROS1

The PANTHER Classification System

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PANTHERi
PTHR24040:SF10, PTHR24040:SF10, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00008, EGF, 1 hit
PF07645, EGF_CA, 2 hits
PF00594, Gla, 1 hit
PF00054, Laminin_G_1, 1 hit
PF02210, Laminin_G_2, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00001, GLABLOOD

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00181, EGF, 4 hits
SM00179, EGF_CA, 4 hits
SM00069, GLA, 1 hit
SM00282, LamG, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49899, SSF49899, 2 hits
SSF57184, SSF57184, 1 hit
SSF57630, SSF57630, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00010, 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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

P07225-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRVLGGRCGA LLACLLLVLP VSEANFLSKQ QASQVLVRKR RANSLLEETK
60 70 80 90 100
QGNLERECIE ELCNKEEARE VFENDPETDY FYPKYLVCLR SFQTGLFTAA
110 120 130 140 150
RQSTNAYPDL RSCVNAIPDQ CSPLPCNEDG YMSCKDGKAS FTCTCKPGWQ
160 170 180 190 200
GEKCEFDINE CKDPSNINGG CSQICDNTPG SYHCSCKNGF VMLSNKKDCK
210 220 230 240 250
DVDECSLKPS ICGTAVCKNI PGDFECECPE GYRYNLKSKS CEDIDECSEN
260 270 280 290 300
MCAQLCVNYP GGYTCYCDGK KGFKLAQDQK SCEVVSVCLP LNLDTKYELL
310 320 330 340 350
YLAEQFAGVV LYLKFRLPEI SRFSAEFDFR TYDSEGVILY AESIDHSAWL
360 370 380 390 400
LIALRGGKIE VQLKNEHTSK ITTGGDVINN GLWNMVSVEE LEHSISIKIA
410 420 430 440 450
KEAVMDINKP GPLFKPENGL LETKVYFAGF PRKVESELIK PINPRLDGCI
460 470 480 490 500
RSWNLMKQGA SGIKEIIQEK QNKHCLVTVE KGSYYPGSGI AQFHIDYNNV
510 520 530 540 550
SSAEGWHVNV TLNIRPSTGT GVMLALVSGN NTVPFAVSLV DSTSEKSQDI
560 570 580 590 600
LLSVENTVIY RIQALSLCSD QQSHLEFRVN RNNLELSTPL KIETISHEDL
610 620 630 640 650
QRQLAVLDKA MKAKVATYLG GLPDVPFSAT PVNAFYNGCM EVNINGVQLD
660 670
LDEAISKHND IRAHSCPSVW KKTKNS
Length:676
Mass (Da):75,123
Last modified:April 1, 1988 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2B88A04F85403F25
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0S2Z4L3A0A0S2Z4L3_HUMAN
Vitamin K-dependent protein S
PROS1
708Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G5E9F8G5E9F8_HUMAN
Vitamin K-dependent protein S
PROS1
661Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IRK9A0A3B3IRK9_HUMAN
Vitamin K-dependent protein S
PROS1
556Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ISJ1A0A3B3ISJ1_HUMAN
Vitamin K-dependent protein S
PROS1
662Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITZ7A0A3B3ITZ7_HUMAN
Vitamin K-dependent protein S
PROS1
105Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9K0R0C9K0R0_HUMAN
Vitamin K-dependent protein S
PROS1
57Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IUA6A0A3B3IUA6_HUMAN
Vitamin K-dependent protein S
PROS1
103Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAP45054 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti11L → P in AAA36479 (PubMed:3467362).Curated1
Sequence conflicti26F → L in AAA36479 (PubMed:3467362).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04680215L → H in THPH5; reduced mutant protein levels and secretion. 2 Publications1
Natural variantiVAR_04680318V → E in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication1
Natural variantiVAR_04680440R → L in THPH5. 1 PublicationCorresponds to variant dbSNP:rs7614835EnsemblClinVar.1
Natural variantiVAR_04680541R → H in THPH5. 1 PublicationCorresponds to variant dbSNP:rs963668412Ensembl.1
Natural variantiVAR_04680650K → E in THPH5. 1 PublicationCorresponds to variant dbSNP:rs748630360EnsemblClinVar.1
Natural variantiVAR_04680752G → 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 Publication1
Natural variantiVAR_04680867E → A in THPH5. 4 PublicationsCorresponds to variant dbSNP:rs766423432Ensembl.1
Natural variantiVAR_04680968A → D in THPH5. 1 Publication1
Natural variantiVAR_04681072F → C in THPH5. 1 Publication1
Natural variantiVAR_04681176P → L3 PublicationsCorresponds to variant dbSNP:rs73846070EnsemblClinVar.1
Natural variantiVAR_01466678T → 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 PublicationsCorresponds to variant dbSNP:rs6122EnsemblClinVar.1
Natural variantiVAR_04681287V → L in THPH5. 1 PublicationCorresponds to variant dbSNP:rs557733421Ensembl.1
Natural variantiVAR_04681388C → Y in THPH5. 1 Publication1
Natural variantiVAR_04681490R → C in THPH5; produces around 50% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 PublicationCorresponds to variant dbSNP:rs765935815Ensembl.1
Natural variantiVAR_04681590R → H in THPH5. 1 PublicationCorresponds to variant dbSNP:rs200886866Ensembl.1
Natural variantiVAR_04681695G → E in THPH5. 1 PublicationCorresponds to variant dbSNP:rs144526169EnsemblClinVar.1
Natural variantiVAR_04681795G → R in THPH5; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. 2 Publications1
Natural variantiVAR_04681898T → S1 PublicationCorresponds to variant dbSNP:rs142805170Ensembl.1
Natural variantiVAR_046819101R → C in THPH5. 1 PublicationCorresponds to variant dbSNP:rs778731080Ensembl.1
Natural variantiVAR_046820111R → S in THPH5. 1 Publication1
Natural variantiVAR_046821121C → Y in THPH5. 1 Publication1
Natural variantiVAR_046822129D → G in THPH5. 2 PublicationsCorresponds to variant dbSNP:rs749024073Ensembl.1
Natural variantiVAR_046823144T → N in THPH5. 3 PublicationsCorresponds to variant dbSNP:rs146366248EnsemblClinVar.1
Natural variantiVAR_046824149W → C in THPH5. 1 Publication1
Natural variantiVAR_046825157D → G in THPH5. 1 PublicationCorresponds to variant dbSNP:rs751090951Ensembl.1
Natural variantiVAR_046826161C → G in THPH5. 1 Publication1
Natural variantiVAR_046827166N → Y in THPH5. 1 Publication1
Natural variantiVAR_046828168N → S1 PublicationCorresponds to variant dbSNP:rs144430063EnsemblClinVar.1
Natural variantiVAR_046829175C → F in THPH5. 2 Publications1
Natural variantiVAR_046830186C → Y in THPH5. 2 PublicationsCorresponds to variant dbSNP:rs779391826Ensembl.1
Natural variantiVAR_005566196K → 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 PublicationsCorresponds to variant dbSNP:rs121918474EnsemblClinVar.1
Natural variantiVAR_046831204E → G in THPH5. 1 Publication1
Natural variantiVAR_046832233R → K Neutral polymorphism; does not affect protein levels; the mutant is normally secreted. 3 PublicationsCorresponds to variant dbSNP:rs41267007EnsemblClinVar.1
Natural variantiVAR_067302234Y → C in THPH6. 1 PublicationCorresponds to variant dbSNP:rs387906675EnsemblClinVar.1
Natural variantiVAR_046833241C → S in THPH5. 1 Publication1
Natural variantiVAR_046834243D → N in THPH5. 1 Publication1
Natural variantiVAR_046835245D → G in THPH5. 1 PublicationCorresponds to variant dbSNP:rs1211117206Ensembl.1
Natural variantiVAR_046836247C → G in THPH5. 1 Publication1
Natural variantiVAR_046837249E → K in THPH5. 1 PublicationCorresponds to variant dbSNP:rs1455675811Ensembl.1
Natural variantiVAR_005567258N → S in THPH5; produces around 30% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 3 PublicationsCorresponds to variant dbSNP:rs121918473EnsemblClinVar.1
Natural variantiVAR_046838265C → R in THPH5. 1 Publication1
Natural variantiVAR_046839265C → W in THPH5. 1 Publication1
Natural variantiVAR_046840266Y → C in THPH5. 1 PublicationCorresponds to variant dbSNP:rs777616039Ensembl.1
Natural variantiVAR_046841267C → S in THPH5. 1 Publication1
Natural variantiVAR_046842300L → P in THPH5. 1 Publication1
Natural variantiVAR_046843324S → P in THPH5. 1 Publication1
Natural variantiVAR_046844336G → D in THPH5. 1 Publication1
Natural variantiVAR_046845336G → S in THPH5. 1 Publication1
Natural variantiVAR_046846336G → V in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication1
Natural variantiVAR_046847339L → P in THPH5. 1 Publication1
Natural variantiVAR_046848351L → P in THPH5. 1 Publication1
Natural variantiVAR_046849355R → H in THPH5. 1 PublicationCorresponds to variant dbSNP:rs780863931Ensembl.1
Natural variantiVAR_046850357G → R in THPH5. 1 PublicationCorresponds to variant dbSNP:rs941433523Ensembl.1
Natural variantiVAR_046851364K → E in THPH5. 1 Publication1
Natural variantiVAR_046852376D → N in THPH5. 1 Publication1
Natural variantiVAR_046853381G → D in THPH5. 1 PublicationCorresponds to variant dbSNP:rs1223579199Ensembl.1
Natural variantiVAR_046854381G → V in THPH5. 1 Publication1
Natural variantiVAR_046855383W → R in THPH5. 1 Publication1
Natural variantiVAR_046856385M → V1 PublicationCorresponds to variant dbSNP:rs767653920Ensembl.1
Natural variantiVAR_046857390E → K in THPH5. 1 Publication1
Natural variantiVAR_046858446L → P in THPH5. 2 Publications1
Natural variantiVAR_046859449C → S in THPH5. 1 Publication1
Natural variantiVAR_046860475C → R in THPH5. 1 Publication1
Natural variantiVAR_014116482G → C in THPH5. 1 Publication1
Natural variantiVAR_014117485Y → C in THPH5. 1 PublicationCorresponds to variant dbSNP:rs1323663956Ensembl.1
Natural variantiVAR_046862501S → A in THPH5. 1 PublicationCorresponds to variant dbSNP:rs121918472EnsemblClinVar.1
Natural variantiVAR_005568501S → P Variant Heerlen; could be associated with THPH5. 5 PublicationsCorresponds to variant dbSNP:rs121918472EnsemblClinVar.1
Natural variantiVAR_046863508V → G in THPH5. 1 Publication1
Natural variantiVAR_046864508V → M in THPH5. 1 Publication1
Natural variantiVAR_046865515R → 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 PublicationsCorresponds to variant dbSNP:rs199469500EnsemblClinVar.1
Natural variantiVAR_046866515R → P in THPH5. 2 Publications1
Natural variantiVAR_046867521G → D in THPH5. 1 Publication1
Natural variantiVAR_046868525A → P in THPH5. 1 Publication1
Natural variantiVAR_046869526L → S in THPH5. 1 Publication1
Natural variantiVAR_046870532T → A in THPH5. 1 PublicationCorresponds to variant dbSNP:rs371028997EnsemblClinVar.1
Natural variantiVAR_035981545E → G in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1396452003Ensembl.1
Natural variantiVAR_046871552L → S in THPH5. 1 Publication1
Natural variantiVAR_014118559I → M3 PublicationsCorresponds to variant dbSNP:rs184798444Ensembl.1
Natural variantiVAR_014119561R → G in THPH5. 1 PublicationCorresponds to variant dbSNP:rs121918476EnsemblClinVar.1
Natural variantiVAR_046872562I → L in THPH5; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs1380889353Ensembl.1
Natural variantiVAR_046873568C → Y in THPH5. 1 Publication1
Natural variantiVAR_046874575L → R in THPH5. 1 Publication1
Natural variantiVAR_046875583N → H1 PublicationCorresponds to variant dbSNP:rs139479630EnsemblClinVar.1
Natural variantiVAR_046876584L → Q in THPH5. 1 Publication1
Natural variantiVAR_046877611M → K in THPH5. 1 Publication1
Natural variantiVAR_046878611M → T in THPH5. 3 PublicationsCorresponds to variant dbSNP:rs750531364Ensembl.1
Natural variantiVAR_046879616A → P in THPH5. 1 Publication1
Natural variantiVAR_046880622L → R in THPH5. 1 Publication1
Natural variantiVAR_046881630T → I in THPH5; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. 1 PublicationCorresponds to variant dbSNP:rs202190731Ensembl.1
Natural variantiVAR_046882636Y → C in THPH5; shows intracellular degradation and decreased secretion. 1 PublicationCorresponds to variant dbSNP:rs368173480EnsemblClinVar.1
Natural variantiVAR_046883638G → D in THPH5. 2 Publications1
Natural variantiVAR_046884639C → F in THPH5. 1 Publication1
Natural variantiVAR_046885639C → Y in THPH5. 1 Publication1
Natural variantiVAR_046886640M → T in THPH5; does not affect protein levels; the mutant is secreted at lower levels compared to wild-type. 2 Publications1
Natural variantiVAR_046887644I → S in THPH5. 1 Publication1
Natural variantiVAR_046888664H → P in THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found. 1 Publication1
Natural variantiVAR_046889665S → L in THPH5. 1 PublicationCorresponds to variant dbSNP:rs778685576Ensembl.1
Natural variantiVAR_046890666C → R in THPH5. 4 PublicationsCorresponds to variant dbSNP:rs1302089144EnsemblClinVar.1
Natural variantiVAR_046891667P → L in THPH5. 2 PublicationsCorresponds to variant dbSNP:rs1220553873Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Y00692 mRNA Translation: CAA68687.1
Y00692 mRNA Translation: CAA68688.1 Sequence problems.
M15036 mRNA Translation: AAA36479.1
M57853 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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2923.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A35610, KXHUS

NCBI Reference Sequences

More...
RefSeqi
NP_000304.2, NM_000313.3
NP_001301006.1, NM_001314077.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000348974; ENSP00000330021; ENSG00000184500
ENST00000394236; ENSP00000377783; ENSG00000184500

Database of genes from NCBI RefSeq genomes

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GeneIDi
5627

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5627

UCSC genome browser

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UCSCi
uc003drb.5, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi