Keratinocyte transglutaminase

Transglutaminase 1
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2XZZ​
Identifiers
Symbols	TGM1 ; ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
External IDs	OMIM: 190195 MGI: 98730 HomoloGene: 306 ChEMBL: 2810 GeneCards: TGM1 Gene
EC number	2.3.2.13
Gene ontology Molecular function • protein-glutamine gamma-glutamyltransferase activity • protein binding • metal ion binding Cellular component • cornified envelope • intrinsic component of membrane • extracellular exosome Biological process • cellular protein modification process • peptide cross-linking • keratinocyte differentiation • keratinization • cell envelope organization Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	7051	21816
Ensembl	ENSG00000092295	ENSMUSG00000022218
UniProt	P22735	Q9JLF6
RefSeq (mRNA)	NM_000359	NM_001161714
RefSeq (protein)	NP_000350	NP_001155186
Location (UCSC)	Chr 14: 24.25 – 24.26 Mb	Chr 14: 55.7 – 55.71 Mb
PubMed search

Protein-glutamine gamma-glutamyltransferase K is an enzyme that in humans is encoded by the TGM1 gene.^[1][2]

Keratinocyte transglutaminase is a transglutaminase enzyme.

Pathology

A deficiency is associated with ichthyosis lamellaris.^[3] Epidermal transglutaminase is the autoantigen, in humans, of dermatitis herpetiformis.

See also

• Keratinocyte

References

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.
2. "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.

Further reading

• 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.

External links

• TGM1 protein at the US National Library of Medicine Medical Subject Headings (MeSH)