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Gene Review

TGM1  -  transglutaminase 1

Homo sapiens

Synonyms: ARCI1, Epidermal TGase, ICR2, KTG, LI, ...
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Disease relevance of TGM1


Psychiatry related information on TGM1


High impact information on TGM1


Chemical compound and disease context of TGM1


Biological context of TGM1

  • Interestingly, the positions of these introns have been conserved in comparison with the genes of two other transglutaminase-like activities described in the literature, but the TGM1 gene is by far the smallest characterized to date because its introns are relatively smaller [16].
  • Examination of the TGM1 5'-flanking region in transient transfections of human epidermal cells revealed an AP1 site approximately 1.5kb upstream from the transcription start site and a CRE site approximately 0.5kb upstream that, combined, accounted for as much as 90% of the transcriptional activity [4].
  • Three individuals homozygous for the common haplotype, two affected by LI and one affected by CIE, were analysed for mutations in the TGM1 gene [3].
  • We found families in which the splice acceptor site mutation was homozygous, and families where the patients were compound heterozygotes for the splice acceptor site mutation and another TGM1 mutation [2].
  • Our analyses of patients with CRI revealed a common TGM1 mutation involving loss of the intron 5 splice acceptor site leading to alternative splicing of the message [2].

Anatomical context of TGM1


Associations of TGM1 with chemical compounds

  • While the expression of the TGM1 gene is markedly affected by the calcium concentration of the medium, all trans retinoic acid, vitamin D3, and TPA treatment, the expression of the RABGGTA gene was unaffected by these reagents [21].
  • Here we report that cell surface transglutaminase mediates adhesion and spreading of cells on the 42-kD fibronectin fragment, which lacks integrin-binding motifs [17].
  • To examine the effects of GTP on in situ TG activity, tiazofurin, a drug that selectively decreases GTP levels, was used [5].
  • We found that sphingosylphosphocholine (lyso-SM) was the only lipid to activate transglutaminase at low Ca2+ concentrations [22].
  • TG activity was also increased in response to activation of muscarinic cholinergic receptors, which increases intracellular calcium through inositol 1,4,5-trisphosphate generation [5].

Physical interactions of TGM1


Enzymatic interactions of TGM1


Co-localisations of TGM1


Regulatory relationships of TGM1


Other interactions of TGM1


Analytical, diagnostic and therapeutic context of TGM1


  1. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Russell, L.J., DiGiovanna, J.J., Rogers, G.R., Steinert, P.M., Hashem, N., Compton, J.G., Bale, S.J. Nat. Genet. (1995) [Pubmed]
  2. Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies. Shevchenko, Y.O., Compton, J.G., Toro, J.R., DiGiovanna, J.J., Bale, S.J. Hum. Genet. (2000) [Pubmed]
  3. Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. Pigg, M., Gedde-Dahl, T., Cox, D., Hausser, I., Anton-Lamprecht, I., Dahl, N. Eur. J. Hum. Genet. (1998) [Pubmed]
  4. Functional AP1 and CRE response elements in the human keratinocyte transglutaminase promoter mediating Whn suppression. Jessen, B.A., Qin, Q., Rice, R.H. Gene (2000) [Pubmed]
  5. Modulation of the in situ activity of tissue transglutaminase by calcium and GTP. Zhang, J., Lesort, M., Guttmann, R.P., Johnson, G.V. J. Biol. Chem. (1998) [Pubmed]
  6. Intron-exon swapping of transglutaminase mRNA and neuronal Tau aggregation in Alzheimer's disease. Citron, B.A., SantaCruz, K.S., Davies, P.J., Festoff, B.W. J. Biol. Chem. (2001) [Pubmed]
  7. Transglutaminase 2 in neurodegenerative disorders. Ruan, Q., Johnson, G.V. Front. Biosci. (2007) [Pubmed]
  8. Conjugation of sodium caseinate and gum arabic catalyzed by transglutaminase. Flanagan, J., Singh, H. J. Agric. Food Chem. (2006) [Pubmed]
  9. Clinical features of children with screening-identified evidence of celiac disease. Hoffenberg, E.J., Emery, L.M., Barriga, K.J., Bao, F., Taylor, J., Eisenbarth, G.S., Haas, J.E., Sokol, R.J., Taki, I., Norris, J.M., Rewers, M. Pediatrics (2004) [Pubmed]
  10. Factor XIIIA (cross)links AT1 receptors to atherosclerosis. Ogawa, S., Glass, C.K. Cell (2004) [Pubmed]
  11. Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Igarashi, S., Koide, R., Shimohata, T., Yamada, M., Hayashi, Y., Takano, H., Date, H., Oyake, M., Sato, T., Sato, A., Egawa, S., Ikeuchi, T., Tanaka, H., Nakano, R., Tanaka, K., Hozumi, I., Inuzuka, T., Takahashi, H., Tsuji, S. Nat. Genet. (1998) [Pubmed]
  12. Transglutaminase inhibitors induce hyperproliferation and parakeratosis in tissue-engineered skin. Harrison, C.A., Layton, C.M., Hau, Z., Bullock, A.J., Johnson, T.S., Macneil, S. Br. J. Dermatol. (2007) [Pubmed]
  13. Lamellar ichthyosis: response to etretinate with transglutaminase 1 recovery. Hashimoto, K., Gee, S., Tanaka, K. The American Journal of dermatopathology. (2000) [Pubmed]
  14. Molecular mechanisms responsible for the involvement of tissue transglutaminase in human diseases: Celiac Disease. Amantea, G., Cammarano, M., Zefferino, L., Martin, A., Romito, G., Piccirillo, M., Gentile, V. Front. Biosci. (2006) [Pubmed]
  15. Transglutaminase type II plays a protective role in hepatic injury. Nardacci, R., Lo Iacono, O., Ciccosanti, F., Falasca, L., Addesso, M., Amendola, A., Antonucci, G., Craxì, A., Fimia, G.M., Iadevaia, V., Melino, G., Ruco, L., Tocci, G., Ippolito, G., Piacentini, M. Am. J. Pathol. (2003) [Pubmed]
  16. Structure and organization of the human transglutaminase 1 gene. Kim, I.G., McBride, O.W., Wang, M., Kim, S.Y., Idler, W.W., Steinert, P.M. J. Biol. Chem. (1992) [Pubmed]
  17. Tissue transglutaminase is an integrin-binding adhesion coreceptor for fibronectin. Akimov, S.S., Krylov, D., Fleischman, L.F., Belkin, A.M. J. Cell Biol. (2000) [Pubmed]
  18. Transglutaminases: multifunctional cross-linking enzymes that stabilize tissues. Greenberg, C.S., Birckbichler, P.J., Rice, R.H. FASEB J. (1991) [Pubmed]
  19. Crosslinking and G-protein functions of transglutaminase 2 contribute differentially to fibroblast wound healing responses. Stephens, P., Grenard, P., Aeschlimann, P., Langley, M., Blain, E., Errington, R., Kipling, D., Thomas, D., Aeschlimann, D. J. Cell. Sci. (2004) [Pubmed]
  20. Characterization of tissue transglutaminase in human osteoblast-like cells. Heath, D.J., Downes, S., Verderio, E., Griffin, M. J. Bone Miner. Res. (2001) [Pubmed]
  21. The genes encoding geranylgeranyl transferase alpha-subunit and transglutaminase 1 are very closely linked but not functionally related in terminally differentiating keratinocytes. Song, H.J., Rossi, A., Ceci, R., Kim, I.G., Anzano, M.A., Jang, S.I., De Laurenzi, V., Steinert, P.M. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
  22. Sphingosylphosphocholine reduces the calcium ion requirement for activating tissue transglutaminase. Lai, T.S., Bielawska, A., Peoples, K.A., Hannun, Y.A., Greenberg, C.S. J. Biol. Chem. (1997) [Pubmed]
  23. Transglutaminase-mediated processing of fibronectin by endothelial cell monolayers. Martinez, J., Chalupowicz, D.G., Roush, R.K., Sheth, A., Barsigian, C. Biochemistry (1994) [Pubmed]
  24. Overexpression of transglutaminase 2 accelerates the erythroid differentiation of human chronic myelogenous leukemia K562 cell line through PI3K/Akt signaling pathway. Kang, S.K., Lee, J.Y., Chung, T.W., Kim, C.H. FEBS Lett. (2004) [Pubmed]
  25. In Celiac Disease, a Subset of Autoantibodies against Transglutaminase Binds Toll-Like Receptor 4 and Induces Activation of Monocytes. Zanoni, G., Navone, R., Lunardi, C., Tridente, G., Bason, C., Sivori, S., Beri, R., Dolcino, M., Valletta, E., Corrocher, R., Puccetti, A. PLoS Med. (2006) [Pubmed]
  26. Latent transforming growth factor-beta binding protein domains involved in activation and transglutaminase-dependent cross-linking of latent transforming growth factor-beta. Nunes, I., Gleizes, P.E., Metz, C.N., Rifkin, D.B. J. Cell Biol. (1997) [Pubmed]
  27. Lysophosphatidylcholine induces keratinocyte differentiation and upregulation of AP-1- and NF-kappaB DNA-binding activity. Ryborg, A.K., Johansen, C., Iversen, L., Kragballe, K. Acta Derm. Venereol. (2004) [Pubmed]
  28. Regulation of human tissue transglutaminase function by magnesium-nucleotide complexes. Identification of distinct binding sites for Mg-GTP and Mg-ATP. Lai, T.S., Slaughter, T.F., Peoples, K.A., Hettasch, J.M., Greenberg, C.S. J. Biol. Chem. (1998) [Pubmed]
  29. Transglutaminase catalyzes differential crosslinking of small heat shock proteins and amyloid-beta. Boros, S., Kamps, B., Wunderink, L., de Bruijn, W., de Jong, W.W., Boelens, W.C. FEBS Lett. (2004) [Pubmed]
  30. Tissue transglutaminase facilitates the polymerization of insulin-like growth factor-binding protein-1 (IGFBP-1) and leads to loss of IGFBP-1's ability to inhibit insulin-like growth factor-I-stimulated protein synthesis. Sakai, K., Busby, W.H., Clarke, J.B., Clemmons, D.R. J. Biol. Chem. (2001) [Pubmed]
  31. A unique interhelical insertion in plasminogen activator inhibitor-2 contains three glutamines, Gln83, Gln84, Gln86, essential for transglutaminase-mediated cross-linking. Jensen, P.H., Schüler, E., Woodrow, G., Richardson, M., Goss, N., Højrup, P., Petersen, T.E., Rasmussen, L.K. J. Biol. Chem. (1994) [Pubmed]
  32. Transglutaminases catalyze cross-linking of plasminogen to fibronectin and human endothelial cells. Bendixen, E., Borth, W., Harpel, P.C. J. Biol. Chem. (1993) [Pubmed]
  33. Phenotypic modulation of the stromal reticular network in normal and neoplastic lymph nodes: tissue transglutaminase reveals coordinate regulation of multiple cell types. Thomazy, V.A., Vega, F., Medeiros, L.J., Davies, P.J., Jones, D. Am. J. Pathol. (2003) [Pubmed]
  34. Mutant huntingtin protein: a substrate for transglutaminase 1, 2, and 3. Zainelli, G.M., Dudek, N.L., Ross, C.A., Kim, S.Y., Muma, N.A. J. Neuropathol. Exp. Neurol. (2005) [Pubmed]
  35. Stable expression of transfected human involucrin gene in various cell types: evidence for in situ cross-linking by type I and type II transglutaminase. Rorke, E.A., Eckert, R.L. J. Invest. Dermatol. (1991) [Pubmed]
  36. Identification of transglutaminase-reactive residues in S100A11. Robinson, N.A., Eckert, R.L. J. Biol. Chem. (1998) [Pubmed]
  37. Human homeobox HOXA7 regulates keratinocyte transglutaminase type 1 and inhibits differentiation. La Celle, P.T., Polakowska, R.R. J. Biol. Chem. (2001) [Pubmed]
  38. Differentiation-Specific Factors Modulate Epidermal CYP1-4 Gene Expression in Human Skin in Response to Retinoic Acid and Classic Aryl Hydrocarbon Receptor Ligands. Du, L., Neis, M.M., Ladd, P.A., Keeney, D.S. J. Pharmacol. Exp. Ther. (2006) [Pubmed]
  39. Beta ig-h3 induces keratinocyte differentiation via modulation of involucrin and transglutaminase expression through the integrin alpha3beta1 and the phosphatidylinositol 3-kinase/Akt signaling pathway. Oh, J.E., Kook, J.K., Min, B.M. J. Biol. Chem. (2005) [Pubmed]
  40. Structure and organization of the human transglutaminase 3 gene: evolutionary relationship to the transglutaminase family. Kim, I.G., Lee, S.C., Lee, J.H., Yang, J.M., Chung, S.I., Steinert, P.M. J. Invest. Dermatol. (1994) [Pubmed]
  41. Catalog of 680 variations among eight cytochrome p450 ( CYP) genes, nine esterase genes, and two other genes in the Japanese population. Saito, S., Iida, A., Sekine, A., Kawauchi, S., Higuchi, S., Ogawa, C., Nakamura, Y. J. Hum. Genet. (2003) [Pubmed]
  42. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Akiyama, M., Sawamura, D., Shimizu, H. Clin. Exp. Dermatol. (2003) [Pubmed]
  43. Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene. Cserhalmi-Friedman, P.B., Milstone, L.M., Christiano, A.M. Br. J. Dermatol. (2001) [Pubmed]
  44. Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients. Kawashima, J., Akiyama, M., Takizawa, Y., Takahashi, S., Matsuo, I., Shimizu, H. Clin. Exp. Dermatol. (2005) [Pubmed]
  45. Isolation of a cDNA encoding a novel member of the transglutaminase gene family from human keratinocytes. Detection and identification of transglutaminase gene products based on reverse transcription-polymerase chain reaction with degenerate primers. Aeschlimann, D., Koeller, M.K., Allen-Hoffmann, B.L., Mosher, D.F. J. Biol. Chem. (1998) [Pubmed]
  46. Differential expression of multiple transglutaminases in human colon: impaired keratinocyte transglutaminase expression in ulcerative colitis. D'Argenio, G., Calvani, M., Della Valle, N., Cosenza, V., Di Matteo, G., Giorgio, P., Margarucci, S., Petillo, O., Jori, F.P., Galderisi, U., Peluso, G. Gut (2005) [Pubmed]
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