The nucleotide sequence of the gene for human protein C

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 82; no. 14; pp. 4673 - 4677
• Main Authors: Foster, D.C, Yoshitake, S, Davie, E.W
• Format: Journal Article
• Language: English
• Published: Washington, DC National Academy of Sciences of the United States of America 01.07.1985; National Acad Sciences
• Subjects: ADN; Amino Acid Sequence; Amino acids; Bacteriophages; Base Sequence; Biochemistry; Biological and medical sciences; Blood Coagulation Factors - genetics; BLOOD PROTEINS; Complementary DNA; DNA; DNA Restriction Enzymes; Exons; Factor IX - genetics; Fundamental and applied biological sciences. Psychology; GENERO HUMANO; Genes; Genes. Genome; Genomics; GENRE HUMAIN; Glycoproteins - genetics; Humans; Introns; MANKIND; Molecular and cellular biology; Molecular genetics; Nucleic Acid Hybridization; NUCLEOTIDE; Nucleotide sequences; NUCLEOTIDES; NUCLEOTIDOS; Protein C; Protein Conformation; PROTEINAS SANGUINEAS; PROTEINE SANGUINE; VITAMIN K; VITAMINA K; VITAMINE K; Human; Blood coagulation; Gene; Gene organization; Primary structure; Glycoproteins; Serine proteinase; Serum protein; Precursor
• ISSN: 0027-8424; 1091-6490
• DOI: 10.1073/pnas.82.14.4673

A human genomic DNA library was screened for the gene for protein C by using a cDNA probe coding for the human protein. Three different overlapping λ Charon 4A phage were isolated that contain inserts for the gene for protein C. The complete sequence of the gene was determined by the dideoxy method and shown to span about 11 kilobases of DNA. The coding and 3′noncoding portion of the gene consists of eight exons and seven introns. The eight exons code for a preproleader sequence of 42 amino acids, a light chain of 155 amino acids, a connecting dipeptide of Lys-Arg, and a heavy chain of 262 amino acids. The preproleader sequence and the connecting dipeptide are removed during processing, resulting in the mature protein composed of a heavy and a light chain held together by a disulfide bond. The heavy chain also contains the catalytic region for the serine protease. Two Alu sequences and two homologous repeats of about 160 nucleotides were found in intron E. The seven introns in the gene for protein C are located in essentially the same positions in the amino acid sequence as the seven introns in the gene for human factor IX, while the first three introns in protein C are located in the same positions as the first three in the gene for human prothrombin.