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PROCR protein C receptor [ Homo sapiens (human) ]

Gene ID: 10544, updated on 1-Jun-2020

Summary

Official Symbol
PROCRprovided by HGNC
Official Full Name
protein C receptorprovided by HGNC
Primary source
HGNC:HGNC:9452
See related
Ensembl:ENSG00000101000 MIM:600646
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]
Expression
Ubiquitous expression in placenta (RPKM 14.7), fat (RPKM 10.7) and 24 other tissues See more
Orthologs

Genomic context

See PROCR in Genome Data Viewer
Location:
20q11.22
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (35172072..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 MMP24-AS1-EDEM2 readthrough 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 opposite strand

Genomic regions, transcripts, and products

Expression

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC23024

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
negative regulation of coagulation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of coagulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell surface HDA PubMed 
centrosome IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
focal adhesion HDA PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5102..10392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006404.5NP_006395.2  endothelial protein C receptor precursor

    See identical proteins and their annotated locations for NP_006395.2

    Status: REVIEWED

    Source sequence(s)
    AK314887, BQ939781
    Consensus CDS
    CCDS13248.1
    UniProtKB/Swiss-Prot
    Q9UNN8
    Related
    ENSP00000216968.3, ENST00000216968.5
    Conserved Domains (1) summary
    cl08246
    Location:22190
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    35172072..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
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