This COL4A1 protein is a semi-custom product. There are 5 expression system options: Yeast, E. coli, In Vivo Biotinylation in E. coli, Baculovirus, and Mammalian cell. Your requirements will be given top priority in determining the protein tags. For proteins within 800 aa, risk-free custom service is guaranteed. It means you will not be charged if the protein cannot be delivered.
COL4A1 is a vital protein involved in various biological processes. It is a key component of basement membranes present in organs such as the brain, eyes, muscles, and vascular systems [1] [2] [3] [4]. COL4A1, in conjunction with COL4A2, forms heterotrimers crucial for maintaining the structural integrity of basement membranes [2] [5]. These proteins are characterized by a repetitive Gly-Xaa-Yaa sequence, forming a triple helix structure [6]. The structure of COL4A1 consists of a large triple-helical domain and flanking 7S and non-collagenous domains [7].
Mutations in COL4A1 have been linked to various conditions including intracerebral hemorrhage, ocular dysgenesis, neuronal localization defects, myopathy, and Walker-Warburg syndrome [1] [4]. These mutations can result in impaired secretion of COL4A1 and COL4A2, leading to hemorrhagic stroke and other vascular abnormalities [8]. Additionally, COL4A1 mutations have been associated with hereditary porencephaly, underscoring the protein's role in basement membrane stability [9].
Research indicates that COL4A1 regulates vascular intercellular communication and is essential for proper muscle fiber function [10] [11]. Moreover, COL4A1 confers resistance to specific cancer treatments, such as trastuzumab in gastric cancer, and promotes the growth and metastasis of hepatocellular carcinoma cells through FAK-Src signaling [12] [13].
References:
[1] Y. Weng, A. Sonni, C. Labelle‐Dumais, M. Leau, W. Kauffman, M. Jeanneet al., col4a1 mutations in patients with sporadic late‐onset intracerebral hemorrhage, Annals of Neurology, vol. 71, no. 4, p. 470-477, 2012. https://doi.org/10.1002/ana.22682
[2] M. Jeanne and D. Gould, Genotype-phenotype correlations in pathology caused by collagen type iv alpha 1 and 2 mutations, Matrix Biology, vol. 57-58, p. 29-44, 2017. https://doi.org/10.1016/j.matbio.2016.10.003
[3] T. Chen, H. Zheng, Y. Wang, J. Hu, & C. Chen, Bilateral and multiple sub-internal limiting membrane hemorrhages in a familial retinal arteriolar tortuosity patient by valsalva-like mechanism: an observational case report, BMC Ophthalmology, vol. 20, no. 1, 2020. https://doi.org/10.1186/s12886-020-01413-0
[4] C. Labelle‐Dumais, D. Dilworth, E. Harrington, M. Leau, D. Lyons, Z. Kabaevaet al., Col4a1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and walker-warburg syndrome in humans, Plos Genetics, vol. 7, no. 5, p. e1002062, 2011. https://doi.org/10.1371/journal.pgen.1002062
[5] A. Turner, Abstract 18325: functional relationship of the col4a1/col4a2 locus on chromosome 13q34 to coronary artery disease (cad), Circulation, vol. 128, no. suppl_22, 2013. https://doi.org/10.1161/circ.128.suppl_22.a18325
[6] W. Zhang, H. Li, X. Huang, D. Xie, J. Wu, X. Fuet al., Whole‐exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability, Journal of Clinical Laboratory Analysis, vol. 36, no. 9, 2022. https://doi.org/10.1002/jcla.24587
[7] C. Labelle‐Dumais, V. Schuitema, G. Hayashi, K. Hoff, W. Gong, D. Daoet al., Col4a1 mutations cause neuromuscular disease with tissue-specific mechanistic heterogeneity, The American Journal of Human Genetics, vol. 104, no. 5, p. 847-860, 2019. https://doi.org/10.1016/j.ajhg.2019.03.007
[8] M. Jeanne, C. Labelle‐Dumais, J. Jorgensen, W. Kauffman, G. Mancini, J. Favoret al., Col4a2 mutations impair col4a1 and col4a2 secretion and cause hemorrhagic stroke, The American Journal of Human Genetics, vol. 90, no. 1, p. 91-101, 2012. https://doi.org/10.1016/j.ajhg.2011.11.022
[9] G. Breedveld, I. Coo, M. Lequin, W. Arts, P. Heutink, D. Gouldet al., Novel mutations in three families confirm a major role of col4a1 in hereditary porencephaly, Journal of Medical Genetics, vol. 43, no. 6, p. 490-495, 2006. https://doi.org/10.1136/jmg.2005.035584
[10] L. Huang, M. Ajmal, A. Ajmal, Y. Zhao, T. Li, & L. Zeng, A novel isoform of col4a1 in the regulation of vascular intercellular communication, Clinical Cardiology and Cardiovascular Interventions, vol. 4, no. 18, p. 01-03, 2021. https://doi.org/10.31579/2641-0419/225
[11] A. Kiss, N. Somlyai-Popovics, M. Kiss, Z. Boldogkői, K. Csiszár, & M. Mink, Type iv collagen is essential for proper function of integrin-mediated adhesion in drosophila muscle fibers, International Journal of Molecular Sciences, vol. 20, no. 20, p. 5124, 2019. https://doi.org/10.3390/ijms20205124
[12] R. Huang, W. Gu, B. Sun, & L. Gao, Identification of col4a1 as a potential gene conferring trastuzumab resistance in gastric cancer based on bioinformatics analysis, Molecular Medicine Reports, 2018. https://doi.org/10.3892/mmr.2018.8664
[13] T. Wang, H. Jin, J. Hu, X. Li, H. Ruan, H. Xuet al., Col4a1 promotes the growth and metastasis of hepatocellular carcinoma cells by activating fak-src signaling, Journal of Experimental & Clinical Cancer Research, vol. 39, no. 1, 2020. https://doi.org/10.1186/s13046-020-01650-7
