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    PROC protein C, inactivator of coagulation factors Va and VIIIa [ Homo sapiens (human) ]

    Gene ID: 5624, updated on 17-Jul-2016
    Official Symbol
    PROCprovided by HGNC
    Official Full Name
    protein C, inactivator of coagulation factors Va and VIIIaprovided by HGNC
    Primary source
    HGNC:HGNC:9451
    See related
    Ensembl:ENSG00000115718 HPRD:01466; MIM:612283; Vega:OTTHUMG00000131528
    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
    PC; APC; PROC1; THPH3; THPH4
    Summary
    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]
    Orthologs
    Location:
    2q13-q14
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (127418221..127429246)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (128175996..128186822)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373606 Neighboring gene uncharacterized LOC100506922 Neighboring gene uncharacterized LOC105373608 Neighboring gene microRNA 4783 Neighboring gene RNA, U4 small nuclear 48, pseudogene Neighboring gene IWS1, SUPT6H interacting protein

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of self-rated health.
    NHGRI GWA Catalog
    Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study.
    NHGRI GWA Catalog
    Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    ER to Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of blood coagulation TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-glutamic acid carboxylation TAS
    Traceable Author Statement
    more info
     
    positive regulation of establishment of endothelial barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteolysis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    signal peptide processing TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    vitamin K-dependent protein C
    Names
    anticoagulant protein C
    autoprothrombin IIA
    blood coagulation factor XIV
    prepro-protein C
    protein C (inactivator of coagulation factors Va and VIIIa)
    type I protein C
    NP_000303.1

    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_016323.1 RefSeqGene

      Range
      5001..15827
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_599

    mRNA and Protein(s)

    1. NM_000312.3NP_000303.1  vitamin K-dependent protein C preproprotein

      See identical proteins and their annotated locations for NP_000303.1

      Status: REVIEWED

      Source sequence(s)
      BC034377, BM975043, DA642156
      Consensus CDS
      CCDS2145.1
      UniProtKB/Swiss-Prot
      P04070
      Related
      ENSP00000234071, OTTHUMP00000162263, ENST00000234071, OTTHUMT00000254385
      Conserved Domains (5) summary
      smart00020
      Location:211445
      Tryp_SPc; Trypsin-like serine protease
      smart00069
      Location:2487
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues
      cd00054
      Location:101132
      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 ...
      cd00190
      Location:213448
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam14670
      Location:140175
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      127418221..127429246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004505.1XP_016859994.1  

    2. XM_005263717.4XP_005263774.1  

      Conserved Domains (5) summary
      smart00020
      Location:232466
      Tryp_SPc; Trypsin-like serine protease
      smart00069
      Location:45108
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues
      cd00054
      Location:122153
      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 ...
      cd00190
      Location:234469
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam14670
      Location:161196
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    3. XM_017004506.1XP_016859995.1  

      Related
      ENSP00000386679, OTTHUMP00000203820, ENST00000409048, OTTHUMT00000331017

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      128180576..128191401
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)