Keratinocitna transglutaminaza
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| Transglutaminaza 1 (K polipeptidni epidermalni tip I, protein-glutamin-gama-glutamiltransferaza) | |||||||||||
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| 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 | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| podaci | |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 7051 | 21816 | |||||||||
| Ensembl | ENSG00000092295 | ENSMUSG00000022218 | |||||||||
| UniProt | P22735 | Q9JLF6 | |||||||||
| RefSeq (mRNA) | NM_000359 | NM_001161714 | |||||||||
| RefSeq (protein) | NP_000350 | NP_001155186 | |||||||||
| Lokacija (UCSC) | Chr 14: 24.72 - 24.73 Mb | Chr 14: 55.7 - 55.71 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
Protein-glutaminska gama-glutamiltransferaza K je enzim koji je kod čoveka kodiran TGM1 genom.[1][2] Keratinocitna transglutaminaza je transglutaminazni enzim.
Deficijencija ovog enzima je vezana za ichthyosis lamellaris.[3] Epidermalna transglutaminaza je autoantigen bolesti dermatitis herpetiformis kod čoveka.
- ↑ 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)”.
- ↑ 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.
- 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.