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PROC Gene

protein-coding   GIFtS: 72
GCID: GC02P128176

Protein C (Inactivator Of Coagulation Factors Va And VIIIa)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protein C (Inactivator Of Coagulation Factors Va And VIIIa)1 2     THPH32 5
Prepro-Protein C1 2     THPH42 5
Anticoagulant Protein C2 3     APC2
Autoprothrombin IIA2 3     PROC12
Blood Coagulation Factor XIV2 3     Vitamin K-Dependent Protein C2
EC 3.4.21.693 8     EC 3.4.218
PC2 5     

External Ids:    HGNC: 94511   Entrez Gene: 56242   Ensembl: ENSG000001157187   OMIM: 6122835   UniProtKB: P040703   

Export aliases for PROC gene to outside databases

Previous GC identifers: GC02P125475 GC02P126102 GC02P128080 GC02P128269 GC02P127892 GC02P120483


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PROC Gene:
This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form
by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in
degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated
with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous
thrombosis.(provided by RefSeq, Dec 2009)

GeneCards Summary for PROC Gene:
PROC (protein C (inactivator of coagulation factors Va and VIIIa)) is a protein-coding gene. Diseases associated with PROC include protein c deficiency, and thrombophilia due to protein c deficiency, autosomal recessive. GO annotations related to this gene include serine-type endopeptidase activity and calcium ion binding. An important paralog of this gene is PROZ.

UniProtKB/Swiss-Prot: PROC_HUMAN, P04070
Function: Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating
factors Va and VIIIa in the presence of calcium ions and phospholipids

Gene Wiki entry for PROC (Protein C) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PROC gene promoter:
         Max   CREB   Max1   Sp1   deltaCREB   ATF   c-Myc   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PROC promoter sequence
   Search Chromatin IP Primers for PROC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PROC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q13-q14   Ensembl cytogenetic band:  2q14.3   HGNC cytogenetic band: 2q13-q14

PROC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PROC gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P128176:  view genomic region     (about GC identifiers)

Start:
128,175,996 bp from pter      End:
128,186,822 bp from pter
Size:
10,827 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PROC_HUMAN, P04070 (See protein sequence)
Recommended Name: Vitamin K-dependent protein C precursor  
Size: 461 amino acids; 52071 Da
Subunit: Synthesized as a single chain precursor, which is cleaved into a light chain and a heavy chain held
together by a disulfide bond. The enzyme is then activated by thrombin, which cleaves a tetradecapeptide from the
amino end of the heavy chain; this reaction, which occurs at the surface of endothelial cells, is strongly
promoted by thrombomodulin
Miscellaneous: Calcium also binds, with stronger affinity to another site, beyond the GLA domain. This
GLA-independent binding site is necessary for the recognition of the thrombin-thrombomodulin complex
Sequence caution: Sequence=S76088; Type=Erroneous termination; Positions=151; Note=Translated as Cys;
Selected PDB 3D structures from and Proteopedia for PROC (see all 7):
1AUT (3D)        1LQV (3D)        1PCU (3D)        2PCT (3D)        3F6U (3D)        3JTC (3D)    
Secondary accessions: Q15189 Q15190 Q16001 Q53S74 Q9UC55

Explore the universe of human proteins at neXtProt for PROC: NX_P04070

Explore proteomics data for PROC at MOPED

Post-translational modifications: 

  • The vitamin K-dependent, enzymatic carboxylation of some Glu residues allows the modified protein to bind calcium1
  • N- and O-glycosylated. Partial (70%) N-glycosylation of Asn-371 with an atypical N-X-C site produces a higher
    molecular weight form referred to as alpha. The lower molecular weight form, not N-glycosylated at Asn-371, is
    beta. O-glycosylated with core 1 or possibly core 8 glycans1
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF
    domains1
  • May be phosphorylated on a Ser or Thr in a region (AA 25-30) of the propeptide1
  • Glycosylation2 at Thr19, Asn139, Asn290, Asn355, Asn371
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PROC (P04070) (see all 14)
     ERECIEE  DNDIALL  GWEGRFC  YTKVSRY 


    See PROC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000303.1  
    ENSEMBL proteins: 
     ENSP00000392606   ENSP00000234071   ENSP00000412697   ENSP00000411241   ENSP00000406295  
     ENSP00000391220   ENSP00000386679   ENSP00000384225   ENSP00000404030   ENSP00000409543  
    Reactome Protein details: P04070

    PROC Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for PROC (Coagulation Factor XIV/Protein C)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for PROC
    OriGene Protein Over-expression Lysate for PROC
    OriGene MassSpec for PROC
    OriGene Custom Protein Services for PROC
    GenScript Custom Purified and Recombinant Proteins Services for PROC
    Novus Biologicals PROC Proteins
    Novus Biologicals PROC Lysate
    Sino Biological Recombinant Protein for PROC
    Sino Biological Cell Lysate for PROC
    ProSpec Recombinant Protein for PROC
    Cloud-Clone Corp. Proteins for PROC

    PROC Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PROC
    R&D Systems Antibodies for PROC (Coagulation Factor XIV/Protein C)
    OriGene Antibodies for PROC
    OriGene Custom Antibody Services for PROC
    Novus Biologicals PROC Antibodies
    Abcam antibodies for PROC
    Cloud-Clone Corp. Antibodies for PROC
    ThermoFisher Antibody for PROC
    LSBio Antibodies in human, mouse, rat for PROC

    PROC Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PROC
    R&D Systems Luminex Assays for PROC (Coagulation Factor XIV/Protein C)
    GenScript Custom Assay Services for PROC
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PROC
    Cloud-Clone Corp. CLIAs for PROC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    Selected InterPro protein domains (see all 12):
     IPR017857 Coagulation_fac_subgr_Gla_dom
     IPR001314 Peptidase_S1A
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry P04070

    ProtoNet protein and cluster: P04070

    5 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB002383 Coagulation factor GLA domain signature


    UniProtKB/Swiss-Prot: PROC_HUMAN, P04070
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 2 EGF-like domains
    Similarity: Contains 1 Gla (gamma-carboxy-glutamate) domain
    Similarity: Contains 1 peptidase S1 domain


    PROC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PROC_HUMAN, P04070
    Function: Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating
    factors Va and VIIIa in the presence of calcium ions and phospholipids
    Catalytic activity: Degradation of blood coagulation factors Va and VIIIa

         Genatlas biochemistry entry for PROC:
    protein C,coagulation factor (FVa and FVIIIa inactivator),vitamin K-dependent

         Enzyme Numbers (IUBMB): EC 3.4.21.691 2 EC 3.4.212

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity TAS15005336
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI15248212
    GO:0008233peptidase activity ----
         
    PROC for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Proc):
     behavior/neurological  cardiovascular system  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  muscle  nervous system 
     respiratory system 

    PROC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Proctm1Fjc for PROC

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PROC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PROC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PROC
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PROC

    miRNA
    Products:
        
    miRTarBase miRNAs that target PROC:
    hsa-mir-125a-5p (MIRT045724), hsa-mir-335-5p (MIRT017539)

    Block miRNA regulation of human, mouse, rat PROC using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate PROC:
    hsa-miR-636
    SwitchGear 3'UTR luciferase reporter plasmidPROC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PROC
    Predesigned siRNA for gene silencing in human, mouse, rat PROC

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PROC

    Clone
    Products:
         
    OriGene clones in human, mouse for PROC (see all 8)
    OriGene ORF clones in mouse, rat for PROC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PROC (NM_000312)
    Sino Biological Human cDNA Clone for PROC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PROC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PROC

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PROC
    Browse ESI BIO Cell Lines and PureStem Progenitors for PROC 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PROC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    golgi apparatus4
    plasma membrane4
    cytosol1
    lysosome1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005796Golgi lumen TAS--
    GO:0005886plasma membrane TAS--

    PROC for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PROC About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Common Pathway0.00
    Blood Coagulation Signaling Pathways0.51
    Extrinsic Prothrombin Activation Pathway0.00
    2PTM- gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM- gamma carboxylation, hypusine formation and arylsulfatase activation0.31
    Removal of aminoterminal propeptides from gamma-carboxylated proteins0.00
    Warfarin Pathway, Pharmacodynamics0.31
    Gamma-carboxylation of protein precursors0.00
    Gamma-carboxylation, transport, and amino-terminal cleavage of proteins0.00
    Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus0.00
    3Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    4Collagen biosynthesis and modifying enzymes
    Intrinsic Prothrombin Activation Pathway0.39
    Blood Coagulation Cascade0.38
    5Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for PROC
        Blood Coagulation Signaling Pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PROC
        Extrinsic Prothrombin Activation Pathway
    Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway

    1 BioSystems Pathway for PROC
        Complement and Coagulation Cascades


    5 Reactome Pathways for PROC
        Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
    Removal of aminoterminal propeptides from gamma-carboxylated proteins
    Gamma-carboxylation of protein precursors
    Cell surface interactions at the vascular wall
    Common Pathway

    1 PharmGKB Pathway for PROC
        Warfarin Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for PROC):
        Complement and coagulation cascades


    PROC for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PROC
    Interactions:

        GeneGlobe Interaction Network for PROC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for PROC (P040701, 2, 3 ENSP000002340714) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678702, 3MINT-8253561 I2D: score=2 
    ENSG00000206406P678702, 3MINT-8253561 I2D: score=2 
    ENSG00000224398P678702, 3MINT-8253561 I2D: score=2 
    ENSG00000224774P678702, 3MINT-8253561 I2D: score=2 
    ENSG00000228875P678702, 3MINT-8253561 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis TAS--
    GO:0007596blood coagulation TAS--
    GO:0017187peptidyl-glutamic acid carboxylation TAS--
    GO:0030195negative regulation of blood coagulation TAS15005336
    GO:0043066negative regulation of apoptotic process IMP12563316

    PROC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PROC

    2 HMDB Compounds for PROC    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MenadioneVitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)58-27-5--

    3 DrugBank Compounds for PROC    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Sodium Tetradecyl SulfateMonotetradecylsulfate sodium salt (see all 7)1191-50-0targetinhibitor19442540 11752352 17016423 1344580
    Antihemophilic FactorAHF (see all 3)--enzymeinactivator17139284 21054189 17016423
    Menadione2-Methyl-1,4-Naphthalenedione (see all 7)58-27-5targetactivator17215245 17139284 17016423

    8 Novoseek inferred chemical compound relationships for PROC gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gamma-carboxyglutamic acid 55.7 3 9184404 (2), 18373251 (1)
    warfarin 47.7 5 19958090 (2), 12434119 (1), 17112295 (1), 17048007 (1)
    serine 39.3 7 15860736 (1), 8043441 (1), 18058827 (1), 10805286 (1) (see all 7)
    fibrinogen 38.8 7 7531874 (1), 16420572 (1), 15075325 (1), 8375244 (1) (see all 6)
    phospholipid 25.3 2 10753602 (2)
    calcium 4.47 1 1527084 (1)
    heparin 1.16 1 10456457 (1)
    adp 0 1 8375244 (1)



    PROC for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PROC gene: 
    NM_000312.3  

    Unigene Cluster for PROC:

    Protein C (inactivator of coagulation factors Va and VIIIa)
    Hs.224698  [show with all ESTs]
    Unigene Representative Sequence: X02750
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000474030 ENST00000419985 ENST00000234071(uc002tok.3 uc002tol.3 uc010yzi.2)
    ENST00000429925 ENST00000442644 ENST00000427769 ENST00000431364 ENST00000409048
    ENST00000464089 ENST00000402125 ENST00000453608(uc010yzj.2 uc010yzk.2)
    ENST00000422777
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PROC using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate PROC:
    hsa-miR-636
    SwitchGear 3'UTR luciferase reporter plasmidPROC 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PROC
    Predesigned siRNA for gene silencing in human, mouse, rat PROC
    Clone
    Products:
         
    OriGene clones in human, mouse for PROC (see all 8)
    OriGene ORF clones in mouse, rat for PROC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PROC (NM_000312)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PROC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PROC
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PROC
    OriGene qSTAR qPCR primer pairs in human, mouse for PROC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PROC
      QuantiTect SYBR Green Assays in human, mouse, rat PROC
      QuantiFast Probe-based Assays in human, mouse, rat PROC

    Additional mRNA sequence: 

    AK298280.1 BC034377.1 K02059.1 S50739.1 S72338.1 X02750.1 

    6 DOTS entries:

    DT.312382  DT.99954045  DT.99960945  DT.100751492  DT.91756785  DT.91756787 

    Selected AceView cDNA sequences (see all 34):

    BU607676 AW052154 CB113383 CR606412 BM975043 BC034377 AI671712 R29203 
    BV199653 BI764225 CB128895 BQ646591 CB145461 AL531076 CB145040 K02059 
    AA745883 BX107014 BI762861 AL531077 BF237847 BI252272 X02750 AV684946 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PROC    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b
    SP1:        -                       -                             -                     
    SP2:                                                                                    
    SP3:                                                                                    
    SP4:                                                        -     -     -               


    ECgene alternative splicing isoforms for PROC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PROC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAACAAGCAC
    PROC Expression
    About this image

    PROC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PROC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.224698

    UniProtKB/Swiss-Prot: PROC_HUMAN, P04070
    Tissue specificity: Plasma; synthesized in the liver

        Custom PCR Arrays for PROC
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PROC
    OriGene qSTAR qPCR primer pairs in human, mouse for PROC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PROC
    QuantiTect SYBR Green Assays in human, mouse, rat PROC
    QuantiFast Probe-based Assays in human, mouse, rat PROC
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PROC

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for PROC gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Proc1 , 5 protein C1, 5 78.1(n)1
    70.11(a)1
      18 (17.94 cM)5
    191231  NM_008934.31  NP_032960.31 
     321231295 
    chicken
    (Gallus gallus)
    Aves PROC1 protein C (inactivator of coagulation factors Va and more 61.9(n)
    54.33(a)
      395085  NM_204441.1  NP_989772.1 
    lizard
    (Anolis carolinensis)
    Reptilia PROC6
    protein C (inactivator of coagulation factors Va a...
    52(a)
    1 ↔ 1
    3(36077375-36089835)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.243342 Xenopus laevis cDNA clone IMAGE6877936 76.79(n)    BC054331.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc639872 hypothetical protein MGC63987 73.79(n)   393327  BC053182.1 


    ENSEMBL Gene Tree for PROC (if available)
    TreeFam Gene Tree for PROC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PROC gene
    PROZ2  C1S2  C1R2  C1RL2  F92  F102  MASP12  F22  
    HPR2  HP2  F72  MASP22  
    Selected SIMAP similar genes for PROC using alignment to 17 protein entries:     PROC_HUMAN (see all proteins) (see all similar genes):
    PROC1    PROS1    PRRG3    PRRG1    GAS6    F2
    PRSS42    SCUBE2    F9    MEGF6    F11    KLKB1
    TMPRSS11B    TMPRSS11F    TMPRSS9    TMPRSS2    TMPRSS7    TMPRSS11A

    PROC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PROC (see all 445)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0066914
    Thrombophilia due to protein C deficiency, autosomal recessive (THPH4)4--see VAR_0066912 G S mis40--------
    VAR_0066514
    Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)4--see VAR_0066512 G R mis40--------
    VAR_0066924
    Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)4--see VAR_0066922 T M mis40--------
    VAR_0066694
    Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)4--see VAR_0066692 R Q mis40--------
    VAR_0066774
    Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)4--see VAR_0066772 R C mis40--------
    VAR_0066714
    Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)4--see VAR_0066712 I T mis40--------
    VAR_0066894
    Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)4--see VAR_0066892 R C mis40--------
    VAR_0066454
    Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)4--see VAR_0066452 E A mis40--------
    VAR_0066564
    Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)4--see VAR_0066562 G R mis40--------
    VAR_0067044
    Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)4--see VAR_0067042 G S mis40--------

    HapMap Linkage Disequilibrium report for PROC (128175996 - 128186822 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PROC:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv875014CNV Loss21882294
    nsv875013CNV Loss21882294

    Human Gene Mutation Database (HGMD): PROC
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PROC
    DNA2.0 Custom Variant and Variant Library Synthesis for PROC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612283   
    OMIM disorders: 176860  612304  
    UniProtKB/Swiss-Prot: PROC_HUMAN, P04070
  • Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]: A hemostatic disorder
    characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis.
    Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency
    and those with normal amounts of a functionally defective protein as having type II deficiency. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]: A hemostatic
    disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis.
    It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with
    late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis.
    Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is
    very rare. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for PROC (see all 73):    
    About MalaCards
    protein c deficiency    thrombophilia due to protein c deficiency, autosomal recessive    thrombophilia due to protein c deficiency, autosomal dominant    purpura fulminans
    vein disease    venous thrombosis    purpura    thrombophilia
    catastrophic antiphospholipid syndrome    varicose veins    thrombophlebitis    placental abruption
    meningococcemia    brain edema    disseminated intravascular coagulation    venous thromboembolism
    thromboembolism    antiphospholipid syndrome    essential thrombocythemia    visceral leishmaniasis

    2 diseases from the University of Copenhagen DISEASES database for PROC:
    Protein C deficiency     Thrombophilia

    PROC for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for PROC gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    protein c deficiency 91.1 14 9788727 (1), 15748260 (1), 8499568 (1), 7881411 (1) (see all 14)
    purpura fulminans 79.6 5 7841323 (2), 9577159 (1), 15748260 (1), 15186640 (1)
    thrombophilia 65.5 2 11998221 (1), 12632031 (1)
    thrombocytopenia neonatal 65.4 3 7841323 (2), 15748260 (1)
    venous thrombosis 65 9 8462980 (1), 11264150 (1), 9788727 (1), 1511989 (1) (see all 9)
    thrombosis 55.8 3 10639721 (1), 9817680 (1), 17677000 (1)
    thromboembolism 42.7 1 11434940 (1)
    deep vein thrombosis 36.5 2 18954896 (1), 16650085 (1)
    disseminated intravascular coagulation 34.6 1 15186640 (1)
    sepsis 20.7 1 18691097 (1)

    Genatlas disease: PROC
    thrombosis,recurrent (pro-C type I and type II deficiency)

    Genetic Association Database (GAD): PROC
    Human Genome Epidemiology (HuGE) Navigator: PROC (56 documents)

    Export disorders for PROC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PROC gene, integrated from 10 sources (see all 432):
    (articles sorted by number of sources associating them with PROC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene. (PubMed id 2437584)1, 2, 3 Romeo G....Cortese R. (Proc. Natl. Acad. Sci. U.S.A. 1987)
    2. The nucleotide sequence of the gene for human protein C. (PubMed id 2991887)1, 2, 3 Foster D.C.... Davie E.W. (Proc. Natl. Acad. Sci. U.S.A. 1985)
    3. Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels. (PubMed id 9798967)1, 2, 9 Couture P.... Simard J. (Thromb. Haemost. 1998)
    4. Association of warfarin dose with genes involved in its action and metabolism. (PubMed id 17048007)1, 4, 9 Wadelius M....Deloukas P. (Hum. Genet. 2007)
    5. R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese. (PubMed id 15114590)1, 4, 9 Tsay W. and Shen M.C. (Am. J. Hematol. 2004)
    6. Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. (PubMed id 18954896)1, 4, 9 Miyata T....Ikeda Y. (Thromb. Res. 2009)
    7. Genetic determinants of warfarin dosing in the Han-Chinese population. (PubMed id 19958090)1, 4, 9 Lee M.T....Chen Y.T. (Pharmacogenomics 2009)
    8. PROC, PROCR and PROS1 polymorphisms, plasma anticoagulant phenotypes, and risk of cardiovascular disease and mortality in older adults: the Cardiovascular Health Study. (PubMed id 18680534)1, 4, 9 Reiner A.P....Lange L.A. (J. Thromb. Haemost. 2008)
    9. A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy. (PubMed id 7841323)1, 2, 9 Millar D.S.... Cooper D.N. (Blood Coagul. Fibrinolysis 1994)
    10. Combined effects of thrombosis pathway gene variants predict cardiovascular events. (PubMed id 17677000)1, 4, 9 Auro K....Perola M. (PLoS Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5624 HGNC: 9451 AceView: PROC Ensembl:ENSG00000115718 euGenes: HUgn5624
    ECgene: PROC Kegg: 5624 H-InvDB: PROC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PROC Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Protein_C
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PROC[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/proc/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PROC gene:
    Search GeneIP for patents involving PROC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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