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PROCR protein C receptor [ Homo sapiens (human) ]

Gene ID: 10544, updated on 2-Nov-2024

Summary

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Official Symbol
PROCRprovided by HGNC
Official Full Name
protein C receptorprovided by HGNC
Primary source
HGNC:HGNC:9452
See related
Ensembl:ENSG00000101000 MIM:600646; AllianceGenome:HGNC:9452
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
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Genomic context

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See PROCR in Genome Data Viewer
Location:
20q11.22
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35171096..35216259)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36891865..36937140)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33759875..33765165)

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 ATAC-STARR-seq lymphoblastoid active region 17772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17773 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:33678296-33678855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33689161-33689662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33689663-33690162 Neighboring gene MMP24-AS1-EDEM2 readthrough Neighboring gene small nucleolar RNA SNORD56 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:33721175-33722374 Neighboring gene ER degradation enhancing alpha-mannosidase like protein 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:33734321-33734924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33761988-33762690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33763393-33764095 Neighboring gene RNA, 5S ribosomal pseudogene 483 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33803863-33804362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17775 Neighboring gene metallothionein 1 pseudogene 3 Neighboring gene matrix metallopeptidase 24 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33849077-33849838 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33849839-33850602 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33850603-33851364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33863253-33863860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33863861-33864468 Neighboring gene MMP24 opposite strand

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EPCR deficiency ameliorates inflammatory arthritis in mice by suppressing the activation and migration of T cells and dendritic cells.
    Title: EPCR deficiency ameliorates inflammatory arthritis in mice by suppressing the activation and migration of T cells and dendritic cells.
  2. Structural and genomic analysis of single nucleotide polymorphisms in human host factor endothelial protein C receptor (EPCR) reveals complex interplay with malaria parasites.
    Title: Structural and genomic analysis of single nucleotide polymorphisms in human host factor endothelial protein C receptor (EPCR) reveals complex interplay with malaria parasites.
  3. Microvascular Environment Influences Brain Microvascular Heterogeneity: Relative Roles of Astrocytes and Oligodendrocytes for the EPCR Expression in the Brain Endothelium.
    Title: Microvascular Environment Influences Brain Microvascular Heterogeneity: Relative Roles of Astrocytes and Oligodendrocytes for the EPCR Expression in the Brain Endothelium.
  4. Genetic variant of endothelial protein C receptor genes and its serum level in B thalassemic children.
    Title: Genetic variant of endothelial protein C receptor genes and its serum level in B thalassemic children.
  5. Novel Diagnostic Autoantibodies Against Endothelial Protein C Receptor in Patients With Ulcerative Colitis.
    Title: Novel Diagnostic Autoantibodies Against Endothelial Protein C Receptor in Patients With Ulcerative Colitis.
  6. Association of Endothelial Protein C Receptor (EPCR) rs867186 Gene Polymorphism With Increased Levels of Soluble EPCR and High Risk of Severe Malaria and Fatality in Beninese Children.
    Title: Association of Endothelial Protein C Receptor (EPCR) rs867186 Gene Polymorphism With Increased Levels of Soluble EPCR and High Risk of Severe Malaria and Fatality in Beninese Children.
  7. Endothelial protein C receptor is increased in preterm preeclampsia and fetal growth restriction.
    Title: Endothelial protein C receptor is increased in preterm preeclampsia and fetal growth restriction.
  8. Are H1 and H3 haplotypes of endothelial protein C receptor (PROCR) an important factor in contracting COVID-19?
    Title: Are H1 and H3 haplotypes of endothelial protein C receptor (PROCR) an important factor in contracting COVID-19?
  9. Thrombotic Risk Determined by Protein C Receptor (PROCR) Variants among Middle-Aged and Older Adults: A Population-Based Cohort Study.
    Title: Thrombotic Risk Determined by Protein C Receptor (PROCR) Variants among Middle-Aged and Older Adults: A Population-Based Cohort Study.
  10. Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus.
    Title: Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus.
Submit: New GeneRIF Correction See all GeneRIFs (165)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of the Protein C anticoagulant pathway.
EBI GWAS Catalog
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
EBI GWAS Catalog
Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study.
EBI GWAS Catalog
Genetic predictors of fibrin D-dimer levels in healthy adults.
EBI GWAS Catalog
Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
EBI GWAS Catalog
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
EBI GWAS Catalog
Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS 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.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC23024

Gene Ontology Provided by GOA

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

General protein information

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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)

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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), LRG_638

mRNA and Protein(s)

  1. NM_006404.5 → NP_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
    B2RC04, Q14218, Q6IB56, Q96CB3, Q9ULX1, Q9UNN8
    Related
    ENSP00000216968.3, ENST00000216968.5
    Conserved Domains (1) summary
    cl08246
    Location:22 → 190
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    35171096..35216259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047439830.1 → XP_047295786.1  endothelial protein C receptor isoform X1

  2. XM_011528496.2 → XP_011526798.2  endothelial protein C receptor isoform X2

  3. XM_047439831.1 → XP_047295787.1  endothelial protein C receptor isoform X3

    UniProtKB/Swiss-Prot
    B2RC04, Q14218, Q6IB56, Q96CB3, Q9ULX1, Q9UNN8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    36891865..36937140
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322841.1 → XP_054178816.1  endothelial protein C receptor isoform X1

  2. XM_054322842.1 → XP_054178817.1  endothelial protein C receptor isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UNN8.1 GenPept UniProtKB/Swiss-Prot:Q9UNN8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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