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Gene Review

COL3A1  -  collagen, type III, alpha 1

Homo sapiens

Synonyms: Collagen alpha-1(III) chain
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Disease relevance of COL3A1


High impact information on COL3A1

  • BACKGROUND: Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1) [5].
  • Optimal rottlerin concentrations caused a 70-90% inhibition of type I collagen production, a >80% reduction in COL1A1 mRNA, and a >70% reduction in COL3A1 mRNA in both cell types [6].
  • Although other fibrillar collagen-gene mutations that lead to allele instability or failure to incorporate proalpha-chains into trimers-and that thus reduce the amount of mature molecules produced-result in clinically apparent phenotypes, no such mutations have been identified in COL3A1 [1].
  • Mutations in the COL3A1 gene have been implicated as a cause of type IV Ehlers-Danlos syndrome, a disease leading to aortic rupture in early adult life [7].
  • In fibroblasts from the father, approximately two-fifths of the COL3A1 alleles carried the deletion, but only 10% of the COL3A1 alleles in white blood cells were of the mutant species [8].

Chemical compound and disease context of COL3A1


Biological context of COL3A1


Anatomical context of COL3A1


Associations of COL3A1 with chemical compounds


Other interactions of COL3A1

  • Thus, in contrast to mutations in genes that encode the dominant protein of a tissue (e.g., COL1A1 and COL2A1), in which "null" mutations result in phenotypes milder than those caused by mutations that alter protein sequence, the phenotypes produced by these mutations in COL3A1 overlap with those of the vascular form of EDS [1].
  • Recently, several mutations in three other collagen genes (COL2A1, COL3A1, and COL4A5) have been found in probands with genetic diseases involving tissues rich in these collagens [22].
  • This mutation is analogous to mutations causing exon skipping in the major collagen genes, COL1A1, COL1A2, and COL3A1, identified in several cases of osteogenesis imperfecta and EDS type IV [23].
  • We report here on the complete structure of the human COL3A1 and COL5A2 genes [24].
  • The reduction in the production of procollagen chains was shown to result from a combination of IFN-gamma-induced inhibition of the transcription rates of the COL1A1 and COL3A1 genes and destabilization of the corresponding transcripts [25].

Analytical, diagnostic and therapeutic context of COL3A1


  1. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Schwarze, U., Schievink, W.I., Petty, E., Jaff, M.R., Babovic-Vuksanovic, D., Cherry, K.J., Pepin, M., Byers, P.H. Am. J. Hum. Genet. (2001) [Pubmed]
  2. A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. Kontusaari, S., Tromp, G., Kuivaniemi, H., Romanic, A.M., Prockop, D.J. J. Clin. Invest. (1990) [Pubmed]
  3. Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients. Kuivaniemi, H., Prockop, D.J., Wu, Y., Madhatheri, S.L., Kleinert, C., Earley, J.J., Jokinen, A., Stolle, C., Majamaa, K., Myllylä, V.V. Neurology (1993) [Pubmed]
  4. Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis. Nishiyama, Y., Nejima, J., Watanabe, A., Kotani, E., Sakai, N., Hatamochi, A., Shinkai, H., Kiuchi, K., Tamura, K., Shimada, T., Takano, T., Katayama, Y. J. Intern. Med. (2001) [Pubmed]
  5. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. Pepin, M., Schwarze, U., Superti-Furga, A., Byers, P.H. N. Engl. J. Med. (2000) [Pubmed]
  6. Role of protein kinase C-delta in the regulation of collagen gene expression in scleroderma fibroblasts. Jimenez, S.A., Gaidarova, S., Saitta, B., Sandorfi, N., Herrich, D.J., Rosenbloom, J.C., Kucich, U., Abrams, W.R., Rosenbloom, J. J. Clin. Invest. (2001) [Pubmed]
  7. Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. Liu, X., Wu, H., Byrne, M., Krane, S., Jaenisch, R. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  8. Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring. Milewicz, D.M., Witz, A.M., Smith, A.C., Manchester, D.K., Waldstein, G., Byers, P.H. Am. J. Hum. Genet. (1993) [Pubmed]
  9. Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. Kontusaari, S., Tromp, G., Kuivaniemi, H., Stolle, C., Pope, F.M., Prockop, D.J. Am. J. Hum. Genet. (1992) [Pubmed]
  10. Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV. Nuytinck, L., De Paepe, A., Renard, J.P., Adriaens, F., Leroy, J. Hum. Mutat. (1994) [Pubmed]
  11. A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation. Richards, A.J., Ward, P.N., Narcisi, P., Nicholls, A.C., Lloyd, J.C., Pope, F.M. Hum. Genet. (1992) [Pubmed]
  12. Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV. Lee, B., D'Alessio, M., Vissing, H., Ramirez, F., Steinmann, B., Superti-Furga, A. Am. J. Hum. Genet. (1991) [Pubmed]
  13. Chromosomal assignments of the genes coding for human types II, III, and IV collagen: a dispersed gene family. Solomon, E., Hiorns, L.R., Spurr, N., Kurkinen, M., Barlow, D., Hogan, B.L., Dalgleish, R. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]
  14. Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. Chan, D., Cole, W.G. J. Biol. Chem. (1991) [Pubmed]
  15. Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2. Cutting, G.R., McGinniss, M.J., Kasch, L.M., Tsipouras, P., Antonarakis, S.E. Genomics (1990) [Pubmed]
  16. Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. Kontusaari, S., Tromp, G., Kuivaniemi, H., Ladda, R.L., Prockop, D.J. Am. J. Hum. Genet. (1990) [Pubmed]
  17. RNA-binding proteins heterogeneous nuclear ribonucleoprotein A1, E1, and K are involved in post-transcriptional control of collagen I and III synthesis. Thiele, B.J., Doller, A., Kähne, T., Pregla, R., Hetzer, R., Regitz-Zagrosek, V. Circ. Res. (2004) [Pubmed]
  18. Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. Smith, L.T., Schwarze, U., Goldstein, J., Byers, P.H. J. Invest. Dermatol. (1997) [Pubmed]
  19. Association between COL3A1 collagen gene exon 31 polymorphism and risk of floppy mitral valve/mitral valve prolapse. Chou, H.T., Hung, J.S., Chen, Y.T., Wu, J.Y., Tsai, F.J. International journal of cardiology. (2004) [Pubmed]
  20. Genetic variability in the extracellular matrix as a determinant of cardiovascular risk: association of type III collagen COL3A1 polymorphisms with coronary artery disease. Muckian, C., Fitzgerald, A., O'Neill, A., O'Byrne, A., Fitzgerald, D.J., Shields, D.C. Blood (2002) [Pubmed]
  21. Activation of COL3A1 promoter activity by cyclosporine. Ginevri, F., Gusmano, R., Oleggini, R., Valenti, F., Botti, G., Musante, L., Candiano, G., Ravazzolo, R., Ghiggeri, G.M. Transplant. Proc. (1998) [Pubmed]
  22. Mutations in collagen genes: causes of rare and some common diseases in humans. Kuivaniemi, H., Tromp, G., Prockop, D.J. FASEB J. (1991) [Pubmed]
  23. An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. Nicholls, A.C., Oliver, J.E., McCarron, S., Harrison, J.B., Greenspan, D.S., Pope, F.M. J. Med. Genet. (1996) [Pubmed]
  24. Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. Välkkilä, M., Melkoniemi, M., Kvist, L., Kuivaniemi, H., Tromp, G., Ala-Kokko, L. Matrix Biol. (2001) [Pubmed]
  25. Interferon-gamma regulates collagen and fibronectin gene expression by transcriptional and post-transcriptional mechanisms. Diaz, A., Jiménez, S.A. Int. J. Biochem. Cell Biol. (1997) [Pubmed]
  26. Analysis of the COL3A1 gene in patients with spontaneous cervical artery dissections. von Pein, F., Välkkilä, M., Schwarz, R., Morcher, M., Klima, B., Grau, A., Ala-Kokko, L., Hausser, I., Brandt, T., Grond-Ginsbach, C. J. Neurol. (2002) [Pubmed]
  27. Collagen synthesis by mesenchymal stem cells and aortic valve interstitial cells in response to mechanical stretch. Ku, C.H., Johnson, P.H., Batten, P., Sarathchandra, P., Chambers, R.C., Taylor, P.M., Yacoub, M.H., Chester, A.H. Cardiovasc. Res. (2006) [Pubmed]
  28. Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism. Tiller, G.E., Polumbo, P.A., Summar, M.L. Genomics (1994) [Pubmed]
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