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    PROCR protein C receptor [ Homo sapiens (human) ]

    Gene ID: 10544, updated on 25-May-2017
    Official Symbol
    PROCRprovided by HGNC
    Official Full Name
    protein C receptorprovided by HGNC
    Primary source
    HGNC:HGNC:9452
    See related
    Ensembl:ENSG00000101000 MIM:600646; Vega:OTTHUMG00000032323
    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
    CCCA; EPCR; CCD41
    Summary
    The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013]
    Orthologs
    Location:
    20q11.22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (35171937..35215989)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33759740..33803771)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene transient receptor potential cation channel subfamily C member 4 associated protein Neighboring gene RNA, U6 small nuclear 407, pseudogene Neighboring gene ER degradation enhancing alpha-mannosidase like protein 2 Neighboring gene RNA, 5S ribosomal pseudogene 483 Neighboring gene metallothionein 1 pseudogene 3 Neighboring gene matrix metallopeptidase 24 Neighboring gene MMP24 antisense RNA 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of the Protein C anticoagulant pathway.
    NHGRI GWA Catalog
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    NHGRI GWA Catalog
    Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study.
    NHGRI GWA Catalog
    Genetic predictors of fibrin D-dimer levels in healthy adults.
    NHGRI GWA Catalog
    Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
    NHGRI GWA Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    NHGRI GWA Catalog
    Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.
    NHGRI GWA Catalog
    • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
      Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
    • Common Pathway of Fibrin Clot Formation, organism-specific biosystem (from REACTOME)
      Common Pathway of Fibrin Clot Formation, organism-specific biosystemThe common pathway consists of the cascade of activation events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the f...
    • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
      Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement and coagulation cascades, conserved biosystem (from KEGG)
      Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
      Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC23024

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    negative regulation of coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    endothelial protein C receptor
    Names
    APC receptor
    CD201 antigen
    activated protein C receptor
    cell cycle, centrosome-associated protein
    centrocyclin
    protein C receptor, endothelial

    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_032899.2 RefSeqGene

      Range
      4967..10392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006404.4NP_006395.2  endothelial protein C receptor precursor

      See identical proteins and their annotated locations for NP_006395.2

      Status: REVIEWED

      Source sequence(s)
      AK314887, BM808358, BQ939781, HY110044
      Consensus CDS
      CCDS13248.1
      UniProtKB/Swiss-Prot
      Q9UNN8
      Related
      ENSP00000216968.3, OTTHUMP00000030729, ENST00000216968.4, OTTHUMT00000078843
      Conserved Domains (1) summary
      cl08246
      Location:22190
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      35171937..35215989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528496.1XP_011526798.1  endothelial protein C receptor isoform X1

      Conserved Domains (1) summary
      cl08246
      Location:22190
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      33661021..33666433
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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