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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PROC Gene

protein-coding   GIFtS: 72
GCID: GC02P128176

protein C (inactivator of coagulation factors Va and VIIIa)

 Explore 70 diseases affiliated with
PROC via our new
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Biological research products
for PROC
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Protein C (Inactivator Of Coagulation Factors Va And VIIIa)1 2     APC2
Anticoagulant Protein C2 3     PROC12
Autoprothrombin IIA2 3     THPH32
Blood Coagulation Factor XIV2 3     THPH42
EC 3.4.21.693 8     Vitamin K-Dependent Protein C2
PC2 5     EC 3.4.218

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PROC:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022135.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PROC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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;
6/7 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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P04070

  • 4/14 DME Specific Peptides for PROC (P04070) (see all 14)
     ERECIEE  DNDIALL  GWEGRFC  YTKVSRY 

    PROC Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000303.1  
    ENSEMBL proteins: 
     ENSP00000392606   ENSP00000234071   ENSP00000412697   ENSP00000411241   ENSP00000406295  
     ENSP00000391220   ENSP00000386679   ENSP00000384225   ENSP00000404030   ENSP00000409543  
    Reactome Protein details: P04070
    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: PROC
    OriGene Protein Over-expression Lysate: PROC
    OriGene Custom Protein Services for PROC 
    GenScript Custom Purified and Recombinant Proteins Services for PROC
    Novus Biologicals PROC Proteins
    Novus Biologicals PROC Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for PROC
    Uscn Proteins for PROC

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ----
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005796Golgi lumen TAS--
    GO:0005886plasma membrane TAS--


    PROC for ontologies           About GeneDecksing



    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: PROC
    OriGene Custom Antibody Services for PROC 
    GenScript Superior Antibodies for PROC
    Novus Biologicals PROC Antibodies
    Abcam antibodies for PROC 
    Uscn Antibodies for PROC
    ThermoFisher Antibodies for PROC

    Assay Products for PROC: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PROC
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PROC


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PROC for domains           About GeneDecksing

    5/12 InterPro domains/families (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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

    miRNA
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    miRTarBase miRNAs that target PROC:
    hsa-mir-210 (MIRT003183), hsa-mir-155 (MIRT001207)

    OriGene 3'-UTR Clone: PROC
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PROC
    1 QIAGEN miScript miRNA Assays for microRNA that regulate PROC:
    hsa-miR-636
    SwitchGear 3'UTR luciferase reporter plasmidPROC 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PROC (see all 7)
    OriGene shRNA RFP: PROC
    OriGene siRNA: PROC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PROC

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for PROC

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PROC (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PROC (see all 2)
    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 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PROC

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity TAS--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI15248212
    GO:0008233peptidase activity ----


    PROC for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Proctm1Fjc for PROC
         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Proc):
     behavior/neurological  cardiovascular system  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  muscle  nervous system 
     respiratory system 

    PROC for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Gamma-carboxylation, transport, and amino-terminal cleavage of proteins
    Gamma-carboxylation, transport, and amino-terminal cleavage of proteins1.00
    Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus0.73
    Removal of aminoterminal propeptides from gamma-carboxylated proteins0.82
    Warfarin Pathway, Pharmacodynamics0.67
    Gamma-carboxylation of protein precursors0.82
    2Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)1.00
    Blood Coagulation Signaling Pathways0.51
    3Common Pathway
    Common Pathway1.00
    Extrinsic Prothrombin Activation Pathway0.69
    4Blood Coagulation Cascade
    Blood Coagulation Cascade1.00
    Intrinsic Prothrombin Activation Pathway0.96
    5Complement and coagulation cascades
    Complement and coagulation cascades1.00
    Complement and Coagulation Cascades0.72

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for PROC
        Selected targets of HNF1

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

    3 Downloadable PowerPoint Slides of QIAGEN 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

    5/11        Reactome Pathways for PROC (see all 11)
        Hemostasis
    Removal of aminoterminal propeptides from gamma-carboxylated proteins
    Common Pathway
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    Gamma-carboxylation, transport, and amino-terminal cleavage of proteins

    1 PharmGKB Pathway for PROC
        Warfarin Pathway, Pharmacodynamics

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


    PROC for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PROC

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

    5/22 Interacting proteins for PROC (P040701, 2, 3 ENSP000002340714) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MMP15P515111, 3, ENSP000002192714EBI-1383018,EBI-1383043 I2D: score=1 STRING: ENSP00000219271
    CSNK2BP678702, 3MINT-8253561 I2D: score=2 
    TK1P041832, 3MINT-8273928 I2D: score=2 
    PF4P027763, ENSP000002960294I2D: score=2 STRING: ENSP00000296029
    SERPINA5P051543, ENSP000003332034I2D: score=2 STRING: ENSP00000333203
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PROC for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about PROC 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PROC
    1 QIAGEN miScript miRNA Assays for microRNA that regulate PROC:
    hsa-miR-636
    SwitchGear 3'UTR luciferase reporter plasmidPROC 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PROC (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PROC
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PROC (see all 3)
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    GenScript: all cDNA clones in your preferred vector: PROC (NM_000312)
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    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PROC
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PROC
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PROC

    Additional cDNA 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 

    24/34 AceView cDNA sequences (see all 34):

    CB113383 BU607676 CR606412 BM975043 AI671712 AW052154 BC034377 AA745883 
    CB128895 BQ646591 CB145461 K02059 BX107014 BV199653 BF237847 R29203 
    AL531077 BI762861 CB145040 AL531076 BI764225 X02750 BI252272 NM_000312 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PROC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAACAAGCAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PROC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PROC

    SOURCE GeneReport for Unigene cluster: Hs.224698

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

        SABiosciences Custom PCR Arrays for PROC
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    QIAGEN 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

    This gene was present in the common ancestor of chordates.

    Orthologs for PROC gene from 3/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PROC1 protein C (inactivator of coagulation factors Va and more 61.85(n)
    54.55(a)
      395085  NM_204441.1  NP_989772.1 
    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)
    About This Section
    Paralogs for PROC gene
    PROZ2  PAMR12  C1S2  C1R2  C1RL2  F92  MASP12  F102  
    F22  HPR2  HP2  F72  MASP22  
    18/106 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    MEGF6    F9    F11    KLKB1
    TMPRSS11B    TMPRSS11F    TMPRSS9    TMPRSS2    TMPRSS7    TMPRSS11A

    PROC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/285 NCBI SNPs in PROC are shown (see all 285    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219181431,2
    Cpathogenic128183756(+) ATCCGC/TGGCTC 2 R W mis10--------
    rs1219181521,2
    Cpathogenic128183783(+) CCAGGC/TGGGGA 2 R W mis10--------
    rs1219181601,2
    Cpathogenic128186071(+) CCTCTC/TGCAGA 2 S L mis10--------
    rs1219181571,2
    Cpathogenic128186471(+) TGGATC/GCATGG 2 I M mis11Minor allele frequency- G:0.00NA 4546
    rs1994694811,2
    Cprobable-pathogenic128178996(+) AGGCCA/GAGGAA 2 K E mis10--------
    rs1994694821,2
    Cprobable-pathogenic128179030(+) AGTAAA/GGCCAC 1 -- int10--------
    rs1994694791,2
    Cprobable-pathogenic128180663(+) TGTGCG/TGCGGG 3 G C mis1 ds50010--------
    rs1994694771,2
    Cprobable-pathogenic128180696(+) TCGGC-/AGCT  
            
    TCAGC
    3 S SF fra1 ds50010--------
    rs1994694741,2
    Cprobable-pathogenic128180973(+) GCAGTA/GTCACC 3 Y C mis1 ds50010--------
    rs1469223251,2
    C,probable-pathogenic128183690(+) GGAAGC/TGGATG 2 R W mis11Minor allele frequency- T:0.00NA 4552

    HapMap Linkage Disequilibrium report for PROC (128175996 - 128186822 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PROC: --
    Human Gene Mutation Database (HGMD): PROC

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    PROC for disorders           About GeneDecksing

    OMIM gene information: 612283   
    OMIM disorders: 176860  612304  
    UniProtKB/Swiss-Prot: PROC_HUMAN, P04070
  • Defects in PROC are the cause of 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. However, many adults with heterozygous disease may be asymptomatic. 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
  • Defects in PROC are the cause of 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

    20/70 diseases for PROC (see all 70):    About MalaCards
    thrombophilia due to protein c deficiency    purpura fulminans    protein c deficiency    venous thrombosis
    thrombophilia due to protein c deficiency, autosomal dominant    thrombophilia due to protein c deficiency, autosomal recessive    thrombophilia    purpura
    thrombosis    disseminated intravascular coagulation    deep vein thrombosis    ceroid lipofuscinosis
    neuronal ceroid-lipofuscinosis    catastrophic antiphospholipid syndrome    abdominal aortic aneurysm    growth hormone deficiency
    placental abruption    aortic aneurysm    polycythemia vera    visceral leishmaniasis

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

    10/15 Novoseek 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)
    About This Section

    PubMed articles for PROC gene, integrated from 9 sources (see all 407):
    (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....Peschle C. (1987)
    2. The nucleotide sequence of the gene for human protein C. (PubMed id 2991887)1, 2, 3 Foster D.C.... Davie E.W. (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. (1998)
    4. 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. (2004)
    5. 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. (1994)
    6. Three novel mutations in the protein C (PROC) gene causing venous thrombosis. (PubMed id 7605880)1, 2, 9 Millar D.S.... Cooper D.N. (1995)
    7. A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis. (PubMed id 8499568)1, 2, 9 Millar D.S.... Cooper D.N. (1993)
    8. A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. (PubMed id 1511988)1, 2, 9 Grundy C.B.... Cooper D.N. (1992)
    9. Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis. (PubMed id 1511989)1, 2, 9 Grundy C.B.... Cooper D.N. (1992)
    10. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5624 HGNC: 9451 AceView: PROC Ensembl:ENSG00000115718 euGenes: HUgn5624
    ECgene: PROC Kegg: 5624 H-InvDB: PROC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PROC Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Protein_C
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PROC
    SeattleSNPshttp://pga.gs.washington.edu/data/proc/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PROC
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