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PROS1 protein S [ Homo sapiens (human) ]

Gene ID: 5627, updated on 24-Nov-2020

Summary

Official Symbol
PROS1provided by HGNC
Official Full Name
protein Sprovided by HGNC
Primary source
HGNC:HGNC:9456
See related
Ensembl:ENSG00000184500 MIM:176880
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PSA; PROS; PS21; PS22; PS23; PS24; PS25; THPH5; THPH6
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 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]
Expression
Broad expression in liver (RPKM 79.4), heart (RPKM 44.6) and 21 other tissues See more
Orthologs
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Genomic context

See PROS1 in Genome Data Viewer
Location:
3q11.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (93873051..93973896, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (93591881..93692934, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984021 Neighboring gene RNA, U6 small nuclear 488, pseudogene Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 17 Neighboring gene RNA, U6 small nuclear 511, pseudogene Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 7 Neighboring gene ADP ribosylation factor like GTPase 13B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
endoplasmic reticulum to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
fibrinolysis IEA
Inferred from Electronic Annotation
more info
 
leukocyte migration TAS
Traceable Author Statement
more info
 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
regulation of complement activation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
blood microparticle HDA PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
vitamin K-dependent protein S
Names
protein S (alpha)
protein Sa
vitamin K-dependent plasma protein S

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009813.1 RefSeqGene

    Range
    5001..106054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_572

mRNA and Protein(s)

  1. NM_000313.4NP_000304.2  vitamin K-dependent protein S isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_000304.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC144562, AI139337, BC015801
    Consensus CDS
    CCDS2923.1
    UniProtKB/Swiss-Prot
    P07225
    UniProtKB/TrEMBL
    A0A0S2Z4K3
    Related
    ENSP00000377783.3, ENST00000394236.9
    Conserved Domains (7) summary
    smart00069
    Location:2385
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:119155
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00054
    Location:329459
    Laminin_G_1; Laminin G domain
    pfam02210
    Location:514647
    Laminin_G_2; Laminin G domain
    pfam06247
    Location:134293
    Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
    pfam07645
    Location:201241
    EGF_CA; Calcium-binding EGF domain
    pfam14670
    Location:168199
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  2. NM_001314077.2NP_001301006.1  vitamin K-dependent protein S isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). This isoform (1) may undergo proteolytic processing similar to isoform 2.
    Source sequence(s)
    AC144562, AI139337, BC015801, BG702968, DA408604, DB076220
    UniProtKB/Swiss-Prot
    P07225
    UniProtKB/TrEMBL
    A0A0S2Z4L3
    Related
    ENSP00000497376.1, ENST00000650591.1
    Conserved Domains (7) summary
    smart00069
    Location:58117
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:151187
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00054
    Location:361491
    Laminin_G_1; Laminin G domain
    pfam02210
    Location:546679
    Laminin_G_2; Laminin G domain
    pfam06247
    Location:166325
    Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
    pfam07645
    Location:233273
    EGF_CA; Calcium-binding EGF domain
    pfam14670
    Location:200231
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    93873051..93973896 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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