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Gene Review

COL11A1  -  collagen, type XI, alpha 1

Homo sapiens

Synonyms: CO11A1, COLL6, Collagen alpha-1(XI) chain, STL2
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Disease relevance of COL11A1


High impact information on COL11A1


Biological context of COL11A1

  • These data confirm that mutations in COL11A1 cause Stickler syndrome with the type2 vitreous phenotype and also reveal further locus heterogeneity [9].
  • The main triple-helical domain being encoded by 49-50 exons, including the junction exons, in the COL5A1, COL11A1 and COL11A2 genes, but by 43-44 exons in the genes for the major fibrillar collagens [10].
  • We have characterized the proximal promoter region of the human COL11A1 gene [11].
  • After cloning and sequencing the 5' portion of COL11A1, primer extension and nuclease protection assays identified several minor transcriptional start sites clustered around a major one located 318 base pairs from the ATG codon [12].
  • METHODS: Clinical examination of the family and linkage analysis using markers flanking COL2A1 and COL11A1, the known loci for Stickler syndrome; mutation screening of COL2A1; construction of splicing reporter minigenes and transfection into cultured cells; and RT-PCR analysis of reporter specific transcripts [13].

Anatomical context of COL11A1


Associations of COL11A1 with chemical compounds

  • Here we show for the first time that a family with the full Type 2 Stickler syndrome including vitreous and retinal abnormalities is linked to the COL11A1 gene and characterise the mutation as a Glycine to Valine substitution at position 97 of the triple helical domain caused by a single base G-->T mutation [16].
  • Genotypic-phenotypic comparison revealed an association between the Marshall syndrome phenotype and splicing mutations of 54-bp exons in the C-terminal region of the COL11A1 gene [6].
  • The most effective saccharide in the hemagglutination inhibition assay for both STL1 and STL2 was L-rhamnose [15].
  • Sodium dodecyl sulfate polyacrylamide gel electrophoresis and matrix-assisted laser desorption ionization time of flight mass spectrometry of these lectins revealed that STL1 was composed of noncovalently linked trimer of 31.4-kDa subunits, and STL2 was noncovalently linked trimer of 21.5-kDa subunits [15].

Regulatory relationships of COL11A1

  • These results indicate that the CBF/NF-Y proteins regulate the transcription of COL11A1 by directly binding to the ATTGG sequence in the proximal promoter region [11].
  • An analysis of other collagens showed that COL5A2 was not expressed in normal colon but was co-expressed with COL11A1 in the tumours [1].

Other interactions of COL11A1

  • Seven of the unique variations, four in COL11A1, two in COL11A2 and one in COL2A1, were studied further, because they resulted in the substitution of conserved amino acids or were predicted to affect mRNA splicing [17].
  • We detected two disease-associated mutations in patients with Robin sequence, an Arg to stop codon mutation in COL11A2 and a splicing mutation in COL11A1 [18].
  • A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen [16].
  • Genetic investigations were also performed, considering three candidate loci for Stickler syndrome and Wagner syndrome (COL2A1, COL11A1, WGN1) [19].
  • The transcription factor CCAAT-binding factor CBF/NF-Y regulates the proximal promoter activity in the human alpha 1(XI) collagen gene (COL11A1) [11].

Analytical, diagnostic and therapeutic context of COL11A1


  1. Colorectal carcinogenesis is associated with stromal expression of COL11A1 and COL5A2. Fischer, H., Stenling, R., Rubio, C., Lindblom, A. Carcinogenesis (2001) [Pubmed]
  2. Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome. Griffith, A.J., Gebarski, S.S., Shepard, N.T., Kileny, P.R. Arch. Otolaryngol. Head Neck Surg. (2000) [Pubmed]
  3. Great potential of a panel of multiple hMTH1, SPD, ITGA11 and COL11A1 markers for diagnosis of patients with non-small cell lung cancer. Chong, I.W., Chang, M.Y., Chang, H.C., Yu, Y.P., Sheu, C.C., Tsai, J.R., Hung, J.Y., Chou, S.H., Tsai, M.S., Hwang, J.J., Lin, S.R. Oncol. Rep. (2006) [Pubmed]
  4. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Van Camp, G., Snoeckx, R.L., Hilgert, N., van den Ende, J., Fukuoka, H., Wagatsuma, M., Suzuki, H., Smets, R.M., Vanhoenacker, F., Declau, F., Van de Heyning, P., Usami, S. Am. J. Hum. Genet. (2006) [Pubmed]
  5. Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. Richards, A.J., Baguley, D.M., Yates, J.R., Lane, C., Nicol, M., Harper, P.S., Scott, J.D., Snead, M.P. Am. J. Hum. Genet. (2000) [Pubmed]
  6. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Annunen, S., Körkkö, J., Czarny, M., Warman, M.L., Brunner, H.G., Kääriäinen, H., Mulliken, J.B., Tranebjaerg, L., Brooks, D.G., Cox, G.F., Cruysberg, J.R., Curtis, M.A., Davenport, S.L., Friedrich, C.A., Kaitila, I., Krawczynski, M.R., Latos-Bielenska, A., Mukai, S., Olsen, B.R., Shinno, N., Somer, M., Vikkula, M., Zlotogora, J., Prockop, D.J., Ala-Kokko, L. Am. J. Hum. Genet. (1999) [Pubmed]
  7. Marshall syndrome associated with a splicing defect at the COL11A1 locus. Griffith, A.J., Sprunger, L.K., Sirko-Osadsa, D.A., Tiller, G.E., Meisler, M.H., Warman, M.L. Am. J. Hum. Genet. (1998) [Pubmed]
  8. Marshall syndrome and a defect at the COL11A1 locus. Shanske, A., Bogdanow, A., Shprintzen, R.J., Marion, R.W. Am. J. Hum. Genet. (1998) [Pubmed]
  9. Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. Martin, S., Richards, A.J., Yates, J.R., Scott, J.D., Pope, M., Snead, M.P. Eur. J. Hum. Genet. (1999) [Pubmed]
  10. 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]
  11. The transcription factor CCAAT-binding factor CBF/NF-Y regulates the proximal promoter activity in the human alpha 1(XI) collagen gene (COL11A1). Matsuo, N., Yu-Hua, W., Sumiyoshi, H., Sakata-Takatani, K., Nagato, H., Sakai, K., Sakurai, M., Yoshioka, H. J. Biol. Chem. (2003) [Pubmed]
  12. Structural and functional analysis of the promoter of the human alpha 1(XI) collagen gene. Yoshioka, H., Greenwel, P., Inoguchi, K., Truter, S., Inagaki, Y., Ninomiya, Y., Ramirez, F. J. Biol. Chem. (1995) [Pubmed]
  13. A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. Richards, A.J., Meredith, S., Poulson, A., Bearcroft, P., Crossland, G., Baguley, D.M., Scott, J.D., Snead, M.P. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  14. COL11A1 in FAP polyps and in sporadic colorectal tumors. Fischer, H., Salahshor, S., Stenling, R., Björk, J., Lindmark, G., Iselius, L., Rubio, C., Lindblom, A. BMC Cancer (2001) [Pubmed]
  15. Isolation and characterization of rhamnose-binding lectins from eggs of steelhead trout (Oncorhynchus mykiss) homologous to low density lipoprotein receptor superfamily. Tateno, H., Saneyoshi, A., Ogawa, T., Muramoto, K., Kamiya, H., Saneyoshi, M. J. Biol. Chem. (1998) [Pubmed]
  16. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Richards, A.J., Yates, J.R., Williams, R., Payne, S.J., Pope, F.M., Scott, J.D., Snead, M.P. Hum. Mol. Genet. (1996) [Pubmed]
  17. The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis. Jakkula, E., Melkoniemi, M., Kiviranta, I., Lohiniva, J., Räinä, S.S., Perälä, M., Warman, M.L., Ahonen, K., Kröger, H., Göring, H.H., Ala-Kokko, L. Osteoarthr. Cartil. (2005) [Pubmed]
  18. Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. Melkoniemi, M., Koillinen, H., Männikkö, M., Warman, M.L., Pihlajamaa, T., Kääriäinen, H., Rautio, J., Hukki, J., Stofko, J.A., Cisneros, G.J., Krakow, D., Cohn, D.H., Kere, J., Ala-Kokko, L. Eur. J. Hum. Genet. (2003) [Pubmed]
  19. Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. Parentin, F., Sangalli, A., Mottes, M., Perissutti, P. Graefes Arch. Clin. Exp. Ophthalmol. (2001) [Pubmed]
  20. Mapping of a human fibrillar collagen gene, pro alpha 1 (XI) (COL11A1), to the p21 region of chromosome 1. Henry, I., Bernheim, A., Bernard, M., van der Rest, M., Kimura, T., Jeanpierre, C., Barichard, F., Berger, R., Olsen, B.R., Ramirez, F. Genomics (1988) [Pubmed]
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