Keratinocitna transglutaminaza

Transglutaminaza 1 (K polipeptidni epidermalni tip I, protein-glutamin-gama-glutamiltransferaza)
Dostupne strukture
	2XZZ
Identifikatori
Simboli	TGM1; ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Vanjski ID	OMIM: 190195 MGI: 98730 HomoloGene: 306 GeneCards: TGM1 Gene
EC broj	2.3.2.13
Ontologija gena
Molekularna funkcija	• aktivnost protein-glutamin gama-glutamiltransferaze • proteinsko vezivanje • bezivanje metalnog jona
Celularna komponenta	• međućelijska adhezija • intrinsično za membranu
Biološki proces	• proces modifikacije ćelijkog proteina • morfogeneza organa • peptidno unakrsno vezivanje
Pregled RNK izražavanja
	podaci
Ortolozi

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Protein-glutaminska gama-glutamiltransferaza K je enzim koji je kod čoveka kodiran TGM1 genom.^[1]^[2] Keratinocitna transglutaminaza je transglutaminazni enzim.

Patologija

Deficijencija ovog enzima je vezana za ichthyosis lamellaris.^[3] Epidermalna transglutaminaza je autoantigen bolesti dermatitis herpetiformis kod čoveka.

Povezano

Keratinocit

Reference

↑ Grenard P, Bates MK, Aeschlimann D (Aug 2001). „Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z”. J Biol Chem 276 (35): 33066–78. DOI:10.1074/jbc.M102553200. PMID 11390390.
↑ „Entrez Gene: TGM1 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)”. Entrez Gene: TGM1 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase).
↑ Hennies HC, Küster W, Wiebe V, Krebsová A, Reis A (1998). „Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis”. Am. J. Hum. Genet. 62 (5): 1052–61. DOI:10.1086/301818. PMC 1377076. PMID 9545389.

Literatura

Phillips MA, Stewart BE, Rice RH (1992). „Genomic structure of keratinocyte transglutaminase. Recruitment of new exon for modified function.”. J. Biol. Chem. 267 (4): 2282–6. PMID 1346394.
Kim IG, McBride OW, Wang M, et al. (1992). „Structure and organization of the human transglutaminase 1 gene.”. J. Biol. Chem. 267 (11): 7710–7. PMID 1348508.
Polakowska RR, Eickbush T, Falciano V, et al. (1992). „Organization and evolution of the human epidermal keratinocyte transglutaminase I gene.”. Proc. Natl. Acad. Sci. U.S.A. 89 (10): 4476–80. DOI:10.1073/pnas.89.10.4476. PMC 49105. PMID 1350092.
Schroeder WT, Thacher SM, Stewart-Galetka S, et al. (1992). „Type I keratinocyte transglutaminase: expression in human skin and psoriasis.”. J. Invest. Dermatol. 99 (1): 27–34. DOI:10.1111/1523-1747.ep12611394. PMID 1351505.
Yamanishi K, Inazawa J, Liew FM, et al. (1992). „Structure of the gene for human transglutaminase 1.”. J. Biol. Chem. 267 (25): 17858–63. PMID 1381356.
Kim HC, Idler WW, Kim IG, et al. (1991). „The complete amino acid sequence of the human transglutaminase K enzyme deduced from the nucleic acid sequences of cDNA clones.”. J. Biol. Chem. 266 (1): 536–9. PMID 1670769.
Yamanishi K, Liew FM, Konishi K, et al. (1991). „Molecular cloning of human epidermal transglutaminase cDNA from keratinocytes in culture.”. Biochem. Biophys. Res. Commun. 175 (3): 906–13. DOI:10.1016/0006-291X(91)91651-R. PMID 1673840.
Polakowska R, Herting E, Goldsmith LA (1991). „Isolation of cDNA for human epidermal type I transglutaminase.”. J. Invest. Dermatol. 96 (2): 285–8. DOI:10.1111/1523-1747.ep12464554. PMID 1704039.
Phillips MA, Stewart BE, Qin Q, et al. (1991). „Primary structure of keratinocyte transglutaminase.”. Proc. Natl. Acad. Sci. U.S.A. 87 (23): 9333–7. DOI:10.1073/pnas.87.23.9333. PMC 55159. PMID 1979171.
Candi E, Melino G, Mei G, et al. (1995). „Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein.”. J. Biol. Chem. 270 (44): 26382–90. DOI:10.1074/jbc.270.44.26382. PMID 7592852.
Mariniello L, Esposito C, Di Pierro P, et al. (1993). „Human-immunodeficiency-virus transmembrane glycoprotein gp41 is an amino acceptor and donor substrate for transglutaminase in vitro.”. Eur. J. Biochem. 215 (1): 99–104. DOI:10.1111/j.1432-1033.1993.tb18011.x. PMID 7688299.
Russell LJ, DiGiovanna JJ, Rogers GR, et al. (1995). „Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.”. Nat. Genet. 9 (3): 279–83. DOI:10.1038/ng0395-279. PMID 7773290.
Huber M, Rettler I, Bernasconi K, et al. (1995). „Mutations of keratinocyte transglutaminase in lamellar ichthyosis.”. Science 267 (5197): 525–8. DOI:10.1126/science.7824952. PMID 7824952.
Amendola A, Lombardi G, Oliverio S, et al. (1994). „HIV-1 gp120-dependent induction of apoptosis in antigen-specific human T cell clones is characterized by 'tissue' transglutaminase expression and prevented by cyclosporin A.”. FEBS Lett. 339 (3): 258–64. DOI:10.1016/0014-5793(94)80427-3. PMID 7906657.
Kim SY, Kim IG, Chung SI, Steinert PM (1994). „The structure of the transglutaminase 1 enzyme. Deletion cloning reveals domains that regulate its specific activity and substrate specificity.”. J. Biol. Chem. 269 (45): 27979–86. PMID 7961731.
Steinert PM, Kim SY, Chung SI, Marekov LN (1996). „The transglutaminase 1 enzyme is variably acylated by myristate and palmitate during differentiation in epidermal keratinocytes.”. J. Biol. Chem. 271 (42): 26242–50. DOI:10.1074/jbc.271.39.24105. PMID 8824274.
Laiho E, Ignatius J, Mikkola H, et al. (1997). „Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.”. Am. J. Hum. Genet. 61 (3): 529–38. DOI:10.1086/515498. PMC 1715945. PMID 9326318.
Tarcsa E, Marekov LN, Andreoli J, et al. (1997). „The fate of trichohyalin. Sequential post-translational modifications by peptidyl-arginine deiminase and transglutaminases.”. J. Biol. Chem. 272 (44): 27893–901. DOI:10.1074/jbc.272.44.27893. PMID 9346937.
Petit E, Huber M, Rochat A, et al. (1998). „Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity.”. Eur. J. Hum. Genet. 5 (4): 218–28. PMID 9359043.
Iwasaki W, Nagata K, Hatanaka H, et al. (1998). „Solution structure of midkine, a new heparin-binding growth factor.”. EMBO J. 16 (23): 6936–46. DOI:10.1093/emboj/16.23.6936. PMC 1170297. PMID 9384573.

Vanjske veze

MeSH TGM1+protein

[pmid11390390-1] Grenard P, Bates MK, Aeschlimann D (Aug 2001). „Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z”. J Biol Chem 276 (35): 33066–78. DOI:10.1074/jbc.M102553200. PMID 11390390.

[entrez-2] „Entrez Gene: TGM1 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)”. Entrez Gene: TGM1 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase).

[3] Hennies HC, Küster W, Wiebe V, Krebsová A, Reis A (1998). „Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis”. Am. J. Hum. Genet. 62 (5): 1052–61. DOI:10.1086/301818. PMC 1377076. PMID 9545389.

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