Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5627
Gene name	Protein S
Gene symbol	PROS1
Synonyms (NCBI Gene)	PROSPS21PS22PS23PS24PS25PSATHPH5THPH6
Chromosome	3
Chromosome location	3q11.1
Summary	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 inact

Show/Hide all (41)

SNP ID	Visualize variation	Clinical significance	Consequence
rs6122	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs5017717	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs41267007	C>T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, missense variant
rs73846070	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121918472	A>C,G	Pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs121918473	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918474	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918475	G>A	Pathogenic	Stop gained, coding sequence variant
rs121918476	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs144526169	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs187264712	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs199469484	G>A	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs199469494	C>T	Likely-pathogenic	Intron variant
rs199469500	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs199469503	A>C,T	Likely-pathogenic	Coding sequence variant, stop gained
rs201928951	T>C,G	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs267599946	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs267606981	T>A,C	Pathogenic	Synonymous variant, terminator codon variant, stop lost
rs368074804	C>A,T	Likely-pathogenic	Splice acceptor variant
rs387906674	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906675	T>C	Pathogenic	Missense variant, coding sequence variant
rs759677822	C>G,T	Pathogenic	Splice acceptor variant
rs761574063	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs863224838	A>CC	Pathogenic	Frameshift variant, coding sequence variant
rs1131691605	C>T	Pathogenic	Splice acceptor variant
rs1241365457	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1302089144	A>G	Pathogenic	Missense variant, coding sequence variant
rs1395378093	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1437372036	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553809314	C>A	Pathogenic	Stop gained, coding sequence variant
rs1559926604	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1575904540	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576170616	C>T	Pathogenic	Missense variant, coding sequence variant
rs1576170618	A>-	Pathogenic	Coding sequence variant, stop gained
rs1576173175	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576176794	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576180176	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1576180280	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1576182838	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576182848	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1576198449	G>C	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (79)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018834	hsa-miR-335-5p	Microarray	18185580
MIRT053355	hsa-miR-494-3p	Luciferase reporter assayqRT-PCRWestern blot	23789915
MIRT1265193	hsa-miR-4318	CLIP-seq
MIRT1265194	hsa-miR-4679	CLIP-seq
MIRT1265195	hsa-miR-4693-5p	CLIP-seq
MIRT1265196	hsa-miR-5096	CLIP-seq
MIRT1265197	hsa-miR-892a	CLIP-seq
MIRT2078002	hsa-miR-188-5p	CLIP-seq
MIRT2078003	hsa-miR-4282	CLIP-seq
MIRT1265196	hsa-miR-5096	CLIP-seq
MIRT2078004	hsa-miR-642a	CLIP-seq
MIRT2078003	hsa-miR-4282	CLIP-seq
MIRT2304447	hsa-miR-4320	CLIP-seq
MIRT1265196	hsa-miR-5096	CLIP-seq
MIRT2304448	hsa-miR-548n	CLIP-seq
MIRT2304449	hsa-miR-548t	CLIP-seq
MIRT2601362	hsa-miR-1184	CLIP-seq
MIRT2601363	hsa-miR-1224-3p	CLIP-seq
MIRT2601364	hsa-miR-1266	CLIP-seq
MIRT2601365	hsa-miR-1301	CLIP-seq
MIRT2601366	hsa-miR-1914	CLIP-seq
MIRT2601367	hsa-miR-22	CLIP-seq
MIRT2601368	hsa-miR-2355-5p	CLIP-seq
MIRT2601369	hsa-miR-3120-3p	CLIP-seq
MIRT2601370	hsa-miR-3156-3p	CLIP-seq
MIRT2601371	hsa-miR-3185	CLIP-seq
MIRT2601372	hsa-miR-3660	CLIP-seq
MIRT2601373	hsa-miR-3664-3p	CLIP-seq
MIRT2601374	hsa-miR-3679-3p	CLIP-seq
MIRT2601375	hsa-miR-3942-3p	CLIP-seq
MIRT2078003	hsa-miR-4282	CLIP-seq
MIRT2601376	hsa-miR-4286	CLIP-seq
MIRT2601377	hsa-miR-4301	CLIP-seq
MIRT2601378	hsa-miR-4418	CLIP-seq
MIRT2601379	hsa-miR-4480	CLIP-seq
MIRT2601380	hsa-miR-4494	CLIP-seq
MIRT2601381	hsa-miR-4518	CLIP-seq
MIRT2601382	hsa-miR-4526	CLIP-seq
MIRT2601383	hsa-miR-4660	CLIP-seq
MIRT2601384	hsa-miR-4699-5p	CLIP-seq
MIRT2601385	hsa-miR-4714-3p	CLIP-seq
MIRT2601386	hsa-miR-4793-5p	CLIP-seq
MIRT2601387	hsa-miR-5047	CLIP-seq
MIRT2601388	hsa-miR-509-3-5p	CLIP-seq
MIRT2601389	hsa-miR-509-5p	CLIP-seq
MIRT2601390	hsa-miR-545	CLIP-seq
MIRT2601391	hsa-miR-548p	CLIP-seq
MIRT2601392	hsa-miR-873	CLIP-seq
MIRT2601362	hsa-miR-1184	CLIP-seq
MIRT2601364	hsa-miR-1266	CLIP-seq
MIRT2601365	hsa-miR-1301	CLIP-seq
MIRT2601366	hsa-miR-1914	CLIP-seq
MIRT2601367	hsa-miR-22	CLIP-seq
MIRT2601368	hsa-miR-2355-5p	CLIP-seq
MIRT2601369	hsa-miR-3120-3p	CLIP-seq
MIRT2601370	hsa-miR-3156-3p	CLIP-seq
MIRT2601371	hsa-miR-3185	CLIP-seq
MIRT2601373	hsa-miR-3664-3p	CLIP-seq
MIRT2601374	hsa-miR-3679-3p	CLIP-seq
MIRT2688671	hsa-miR-375	CLIP-seq
MIRT2601375	hsa-miR-3942-3p	CLIP-seq
MIRT2688672	hsa-miR-4263	CLIP-seq
MIRT2078003	hsa-miR-4282	CLIP-seq
MIRT2601377	hsa-miR-4301	CLIP-seq
MIRT2601378	hsa-miR-4418	CLIP-seq
MIRT2601379	hsa-miR-4480	CLIP-seq
MIRT2601380	hsa-miR-4494	CLIP-seq
MIRT2601381	hsa-miR-4518	CLIP-seq
MIRT2601383	hsa-miR-4660	CLIP-seq
MIRT2601384	hsa-miR-4699-5p	CLIP-seq
MIRT2688673	hsa-miR-4735-5p	CLIP-seq
MIRT2688674	hsa-miR-4760-3p	CLIP-seq
MIRT2601387	hsa-miR-5047	CLIP-seq
MIRT2601388	hsa-miR-509-3-5p	CLIP-seq
MIRT2601389	hsa-miR-509-5p	CLIP-seq
MIRT2601390	hsa-miR-545	CLIP-seq
MIRT2601391	hsa-miR-548p	CLIP-seq
MIRT2688675	hsa-miR-576-5p	CLIP-seq
MIRT2601392	hsa-miR-873	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
STAT3	Unknown	16840717

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0004866	Function	Endopeptidase inhibitor activity	TAS	8146182
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	14607961
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005796	Component	Golgi lumen	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	TAS	9657428
GO:0007599	Process	Hemostasis	IEA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0042730	Process	Fibrinolysis	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072562	Component	Blood microparticle	HDA	22516433

MIM	HGNC	e!Ensembl
176880	9456	ENSG00000184500

P07225

Protein name

Vitamin K-dependent protein S

Protein 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.

PDB

1Z6C

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00594	Gla	46 → 86	Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain	Domain
PF00008	EGF	121 → 153	EGF-like domain	Domain
PF14670	FXa_inhibition	161 → 199		Domain
PF07645	EGF_CA	201 → 241	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	243 → 282	Calcium-binding EGF domain	Domain
PF00054	Laminin_G_1	329 → 459	Laminin G domain	Domain
PF02210	Laminin_G_2	514 → 647	Laminin G domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Plasma.

Sequence

MRVLGGRCGALLACLLLVLPVSEANFLSKQQASQVLVRKRRANSLLEETKQGNLERECIE
ELCNKEEAREVFENDPETDYFYPKYLVCLRSFQTGLFTAARQSTNAYPDLRSCVNAIPDQ
CSPLPCNEDGYMSCKDGKASFTCTCKPGWQGEKCEFDINECKDPSNINGGCSQICDNTPG
SYHCSCKNGFVMLSNKKDCKDVDECSLKPSICGTAVCKNIPGDFECECPEGYRYNLKSKS
CEDIDECSENMCAQLCVNYPGGYTCYCDGKKGFKLAQDQKSCEVVSVCLPLNLDTKYELL
YLAEQFAGVVLYLKFRLPEISRFSAEFDFRTYDSEGVILYAESIDHSAWLLIALRGGKIE
VQLKNEHTSKITTGGDVINNGLWNMVSVEELEHSISIKIAKEAVMDINKPGPLFKPENGL
LETKVYFAGFPRKVESELIKPINPRLDGCIRSWNLMKQGASGIKEIIQEKQNKHCLVTVE
KGSYYPGSGIAQFHIDYNNVSSAEGWHVNVTLNIRPSTGTGVMLALVSGNNTVPFAVSLV
DSTSEKSQDILLSVENTVIYRIQALSLCSDQQSHLEFRVNRNNLELSTPLKIETISHEDL
QRQLAVLDKAMKAKVATYLGGLPDVPFSATPVNAFYNGCMEVNINGVQLDLDEAISKHND
IRAHSCPSVWKKTKNS

Sequence length

676

Interactions

View interactions

	KEGG		Reactome
	Efferocytosis Complement and coagulation cascades		Platelet degranulation Intrinsic Pathway of Fibrin Clot Formation Common Pathway of Fibrin Clot Formation Gamma-carboxylation of protein precursors Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus Removal of aminoterminal propeptides from gamma-carboxylated proteins Cell surface interactions at the vascular wall Regulation of Complement cascade

584

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary thrombophilia due to congenital protein S deficiency	Pathogenic	rs2107125195	RCV004785539
Lung cancer	Likely pathogenic	rs368074804	RCV005928658
PROS1-related disorder	Pathogenic; Likely pathogenic	rs121918474, rs759677822, rs1437372036, rs199469494, rs766423432	RCV003952355 RCV003420260 RCV004731031 RCV004698848 RCV003983851
Protein S deficiency disease	Likely pathogenic; Pathogenic	rs2107279041, rs2107125195, rs1709034856, rs2107137626, rs2107279407, rs2471793821, rs5017717, rs1302089144, rs1576170618, rs199469503, rs199469500, rs1576173175, rs267599946, rs1576176794, rs1437372036 View all (7 more)	RCV002245345 RCV002245347 RCV002245349 RCV002245350 RCV002245430 RCV003594626 RCV000851685 RCV000851732 RCV000851724 RCV000851930 RCV000851705 RCV000851703 RCV000852021 RCV000851586 RCV000851991 RCV000851920 RCV000852246 RCV000852221 RCV000851642 RCV000851805 RCV000851579 RCV000851997
Thrombophilia due to protein S deficiency, autosomal dominant	Likely pathogenic; Pathogenic	rs753603433, rs2107158284, rs2107120174, rs2107170811, rs2107202922, rs780859898, rs2107279030, rs779391826, rs2107124949, rs2107137626, rs368074804, rs2472142959, rs2472148801, rs2472115014, rs2472148797 View all (18 more)	RCV001353255 RCV001353254 RCV001729860 RCV001801305 RCV001801308 RCV001801315 RCV001801316 RCV004796687 RCV002223119 RCV003313797 RCV000149896 RCV002814359 RCV003313894 RCV003388269 RCV003389029 RCV003447747 RCV000014245 RCV000014246 RCV000014248 RCV000014249 RCV000014250 RCV003484569 RCV003484577 RCV000022724 RCV002062111 RCV001335248 RCV004796299 RCV002222627 RCV001002782 RCV003448362 RCV002222676 RCV002491727 RCV003483800
Thrombophilia due to protein S deficiency, autosomal recessive	Pathogenic; Likely pathogenic	rs2107120227, rs2107279275, rs1559931820, rs2107202868, rs1332591784, rs1708536031, rs779391826, rs1403076049, rs554787241, rs2107120223, rs1380889353, rs2107158205, rs769700380, rs2472107297, rs2472132377 View all (36 more)	RCV001379760 RCV001377708 RCV001380840 RCV001381645 RCV001998538 RCV001897933 RCV001984812 RCV002035461 RCV001951037 RCV001906972 RCV001986240 RCV001920368 RCV002651715 RCV002651716 RCV002576653 RCV002797132 RCV002848414 RCV000197344 RCV000206188 RCV001055823 RCV003528135 RCV003528502 RCV003529405 RCV003529469 RCV003529470 RCV003529645 RCV003643675 RCV003643617 RCV003643933 RCV003644124 RCV003644514 RCV003642546 RCV003642802 RCV001232043 RCV000558347 RCV001204662 RCV005091831 RCV000688177 RCV000691217 RCV000705342 RCV001241347 RCV001389154 RCV001041891 RCV001051661 RCV001036048 RCV001216716 RCV001211450 RCV001216580 RCV001237346 RCV001229183 RCV001233375 RCV001232678

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal bleeding	Conflicting classifications of pathogenicity; Uncertain significance	rs144526169, rs748630360	RCV001270492 RCV000851696
Abnormal thrombosis	Uncertain significance	rs1164683109	RCV000851660
Deep venous thrombosis	Conflicting classifications of pathogenicity	rs6122	RCV000851741
Finnish congenital nephrotic syndrome	Conflicting classifications of pathogenicity	rs41267007	RCV001258303
Incidental Discovery	Conflicting classifications of pathogenicity	rs373983977	RCV005632253
Optic atrophy	Uncertain significance; Conflicting classifications of pathogenicity	rs371885410, rs121918472	RCV004816355 RCV004814905
Protein S Heerlen	Conflicting classifications of pathogenicity	rs121918472	RCV000014244
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	rs769125007, rs139479630, rs41267007, rs146366248, rs121918472, rs73846070	RCV004815636 RCV004815209 RCV004815207 RCV004815208 RCV004814904 RCV004817846
Thrombocytopenia	Conflicting classifications of pathogenicity	rs144526169	RCV001270492
Thromboembolism	Uncertain significance	rs748858986, rs767606472	RCV000852006 RCV000851877

Show/Hide Text Mining Associations (51)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	32792518
Behcet Syndrome	Associate	27222359
Blood Coagulation Disorders	Associate	35879775, 36685506
Breast Neoplasms	Associate	39270542
Cholangiocarcinoma	Associate	31956102
COVID 19	Associate	39409046
Death	Associate	28174134
Diabetic Foot	Associate	38613800
Endometrial Neoplasms	Inhibit	36965901
Fibrosis	Associate	33512463
Frontotemporal Dementia	Associate	32792518
Genetic Diseases Inborn	Associate	31759544
Glioblastoma	Associate	24358143
Glioma	Associate	35879775
Glioma	Stimulate	36685506
Hypoxia	Inhibit	33254534
Immune System Diseases	Associate	33254534
Immunoglobulin G4 Related Disease	Associate	33512463
Immunologic Deficiency Syndromes	Associate	32426810, 33506924
Infant Newborn Diseases	Associate	39409046
Inflammation	Associate	33512463
Inflammation	Stimulate	36685506
Leiomyosarcoma	Associate	29024938
Myopathies Structural Congenital	Associate	27222359
Neoplasms	Associate	32164602, 32664510, 35879775, 36685506, 39270542
Neoplastic Syndromes Hereditary	Associate	19466456, 25997409, 31743498
Parkinson Disease	Stimulate	36189230
Personality Disorders	Associate	22908226
Post Acute COVID 19 Syndrome	Inhibit	37047497
Progeria	Associate	32208162
Prostatic Neoplasms	Stimulate	22908226
Prostatic Neoplasms Castration Resistant	Stimulate	22908226
Protein C Deficiency	Associate	28607330
Protein Deficiency	Associate	29742732
Protein S Deficiency	Associate	10706858, 12351389, 15550022, 1671337, 16868938, 19466456, 23813890, 25997409, 28374852, 29742732, 30740865, 31743498, 32426810, 32971918, 34967380 View all (6 more)
Protein S Deficiency	Stimulate	39798525
Pulmonary Embolism	Associate	16868938, 28174134, 29742732, 31743498
Retinal Vein Occlusion	Associate	39798525
Schizophrenia	Associate	28974776
Sepsis	Associate	35681439
Thromboembolism	Associate	23986205, 28607330
Thrombophilia	Associate	33254534, 34967380, 39798525
Thrombophilia Hereditary Due To Protein S Deficiency Autosomal Dominant	Associate	32426810
Thrombosis	Associate	12351389, 23986205, 32457982, 35112923, 37647632
Thyroid Cancer Papillary	Associate	36203174
Thyroid Neoplasms	Associate	32164602
Thyroid Nodule	Associate	32164602
Uveal melanoma	Associate	37506796
Venous Thromboembolism	Associate	29742732, 32457982, 32971918, 35112923, 39675565
Venous Thrombosis	Associate	16868938, 26982741, 28374852, 29742732, 34967380, 39798525
Warfarin syndrome	Associate	28607330

PROS1 (protein S)