Organization and chromosomal localization of the human endothelial protein C receptor gene

Gene. 1999 Oct 1;238(2):367-73. doi: 10.1016/s0378-1119(99)00360-1.

Abstract

Endothelial protein C receptor (EPCR), present on endothelial cells of relatively large veins and arteries, plays a role in the enhancement of protein C activation by the thrombin-thrombomodulin complex. In the present study, we determined the organization and the complete nucleotide sequence of the human EPCR gene using polymerase chain reaction-direct sequencing method. The transcription initiation site of the EPCR gene was also determined by the cap site hunting method, using a cap site cDNA prepared from human placenta. The human EPCR gene spanned approx. 6 kb and was composed of four exons and three introns. All exon-intron boundaries agreed with the GT-AG rule. The 5'-flanking region (300 bp) of the EPCR gene contained a putative AP1-binding site, two Sp1-binding sites and two AP2-binding sites, but not definite TATAA or CCAAT sequences. Fluorescence in situ hybridization analysis showed that the EPCR gene is located in chromosome 20q11.2.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Blood Coagulation Factors*
  • Cells, Cultured
  • Chromosome Mapping
  • Chromosomes, Human, Pair 20*
  • DNA
  • Exons
  • Humans
  • Introns
  • Molecular Sequence Data
  • Promoter Regions, Genetic
  • Receptors, Cell Surface / genetics*
  • Thrombomodulin / genetics

Substances

  • Blood Coagulation Factors
  • Receptors, Cell Surface
  • Thrombomodulin
  • activated protein C receptor
  • DNA

Associated data

  • GENBANK/AB026584