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Gene Review

COL4A1  -  collagen, type IV, alpha 1

Homo sapiens

Synonyms: Collagen alpha-1(IV) chain
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Disease relevance of COL4A1

  • We concluded that mutation of COL4A1 may cause a spectrum of cerebrovascular phenotypes and that persons with COL4A1 mutations may be predisposed to hemorrhage, especially after environmental stress [1].
  • Increased expression of COL4A1 and TIMP-1 at the end stage of disease supports the suggestion that expression increases in association with progression of fibrosis and confirms an observation of increased COL4A1 protein expression [2].

High impact information on COL4A1

  • Thus, both genes are expressed in a tissue-specific manner, perhaps due to the unique function of the bidirectional promoter for both genes, which is presumably different from that for COL4A1 and COL4A2 [3].
  • Four enzymes reveal polymorphisms with COL4A1, and 10 haplotypes have been observed in Caucasoids [4].
  • The human type II collagen gene, COL2A1, has been assigned to chromosome 12, the type III gene, COL3A1, to chromosome 2, and one of the type IV genes, COL4A1, to chromosome 13 [5].
  • Combining the two cohorts still showed association for the SERPINE1 (combined OR 1.27, 95% CI 1.07-1.50, P=0.004, PAR 6%), FBN2 (combined OR 1.37, 95% CI 1.07-1.75, P=0.01, PAR 3%) and COL4A1 (combined OR 1.22, 95% CI 1.05-1.42, P=0.007, PAR 7%) genes [6].
  • However, the COL4A5 gene contains 51 exons, or one less than COL4A1 [7].

Biological context of COL4A1

  • Genes encoding the alpha 1(IV) and alpha 2(IV) chains (COL4A1 and COL4A2) both map to human chromosome 13q34 and have been shown to be transcribed from opposite DNA strands using a common bidirectional promoter that allows coordinate regulation of the two chains [8].
  • The lack of linkage disequilibrium between COL4A1 and COL4A2 is in agreement with the relatively high recombination that is observed [4].
  • The two subunit genes COL4A1 and COL4A2 are found closely linked in the human and murine genomes and are transcribed divergently from a common promoter [9].
  • In 5% FCS, corticosteroids increased ECM deposition, involving upregulation of COL4A1 and CTGF mRNA expression [10].
  • Their genes COL4A1 and COL4A2 form a transcription unit in which they are arranged head-to-head and connected by a short common promoter region [11].

Anatomical context of COL4A1

  • Other candidate collagen genes encoding basement membrane collagen (COL4A1/A2 and COL4A5/A6) were excluded by linkage analysis (13q33-q34 and Xq22), or by sequence (COL4A3) [12].
  • In this study, we used dermal fibroblasts from eight normal individuals and nine males with XLAS to test the hypotheses that COL4A5 mutations increase transcription of COL4A1 and suppress transcription of COL4A6 [13].
  • Overexpression of VDUP-1 gene in cultured mesangial cells resulted in type IV collagen alpha1 chain (COL4A1) mRNA induction and accumulation of type IV collagen protein [14].

Associations of COL4A1 with chemical compounds


Other interactions of COL4A1

  • In view of this relationship and the structural similarities between alpha 1(IV) and alpha 3(IV) and between alpha 2(IV) and alpha 4(IV), we hypothesized that COL4A3 and COL4A4, the genes encoding alpha 3(IV) and alpha 4(IV), respectively, have a genomic organization similar to that of COL4A1 and COL4A2.(ABSTRACT TRUNCATED AT 250 WORDS)[8]
  • Immunohistochemical analysis of the strial vessels revealed an increase in entactin and collagen COL4A1 and COL4A2 chains [16].

Analytical, diagnostic and therapeutic context of COL4A1


  1. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. Gould, D.B., Phalan, F.C., van Mil, S.E., Sundberg, J.P., Vahedi, K., Massin, P., Bousser, M.G., Heutink, P., Miner, J.H., Tournier-Lasserve, E., John, S.W. N. Engl. J. Med. (2006) [Pubmed]
  2. Gene expression analysis in a canine model of X-linked Alport syndrome. Greer, K.A., Higgins, M.A., Cox, M.L., Ryan, T.P., Berridge, B.R., Kashtan, C.E., Lees, G.E., Murphy, K.E. Mamm. Genome (2006) [Pubmed]
  3. Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies. Ninomiya, Y., Kagawa, M., Iyama, K., Naito, I., Kishiro, Y., Seyer, J.M., Sugimoto, M., Oohashi, T., Sado, Y. J. Cell Biol. (1995) [Pubmed]
  4. High recombination between two physically close human basement membrane collagen genes at the distal end of chromosome 13q. Bowcock, A.M., Hebert, J.M., Wijsman, E., Gadi, I., Cavalli-Sforza, L.L., Boyd, C.D. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  5. 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]
  6. Evidence in favor of the contribution of genes involved in the maintenance of the extracellular matrix of the arterial wall to the development of intracranial aneurysms. Ruigrok, Y.M., Rinkel, G.J., Van't Slot, R., Wolfs, M., Tang, S., Wijmenga, C. Hum. Mol. Genet. (2006) [Pubmed]
  7. Structure of the human type IV collagen COL4A5 gene. Zhou, J., Leinonen, A., Tryggvason, K. J. Biol. Chem. (1994) [Pubmed]
  8. Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37. Mariyama, M., Zheng, K., Yang-Feng, T.L., Reeders, S.T. Genomics (1992) [Pubmed]
  9. Identification and characterization of a novel transcriptional silencer in the human collagen type IV gene COL4A2. Haniel, A., Welge-Lüssen, U., Kühn, K., Pöschl, E. J. Biol. Chem. (1995) [Pubmed]
  10. Opposite effect of corticosteroids and long-acting beta(2)-agonists on serum- and TGF-beta(1)-induced extracellular matrix deposition by primary human lung fibroblasts. Goulet, S., Bihl, M.P., Gambazzi, F., Tamm, M., Roth, M. J. Cell. Physiol. (2007) [Pubmed]
  11. Basement membrane (type IV) collagen. Kühn, K. Matrix Biol. (1995) [Pubmed]
  12. Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. Ciccarese, M., Casu, D., Ki Wong, F., Faedda, R., Arvidsson, S., Tonolo, G., Luthman, H., Satta, A. Nephrol. Dial. Transplant. (2001) [Pubmed]
  13. Expression of mRNA for type IV collagen alpha1, alpha5 and alpha6 chains by cultured dermal fibroblasts from patients with X-linked Alport syndrome. Sasaki, S., Zhou, B., Fan, W.W., Kim, Y., Barker, D.F., Denison, J.C., Atkin, C.L., Gregory, M.C., Zhou, J., Segal, Y., Sado, Y., Ninomiya, Y., Michael, A.F., Kashtan, C.E. Matrix Biol. (1998) [Pubmed]
  14. Vitamin D3 up-regulated protein-1 regulates collagen expression in mesangial cells. Kobayashi, T., Uehara, S., Ikeda, T., Itadani, H., Kotani, H. Kidney Int. (2003) [Pubmed]
  15. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. Breedveld, G., de Coo, I.F., Lequin, M.H., Arts, W.F., Heutink, P., Gould, D.B., John, S.W., Oostra, B., Mancini, G.M. J. Med. Genet. (2006) [Pubmed]
  16. Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndrome. Cosgrove, D., Samuelson, G., Meehan, D.T., Miller, C., McGee, J., Walsh, E.J., Siegel, M. Hear. Res. (1998) [Pubmed]
  17. Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34. Cutting, G.R., Kazazian, H.H., Antonarakis, S.E., Killen, P.D., Yamada, Y., Francomano, C.A. Genomics (1988) [Pubmed]
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