Keratinocyte transglutaminase

From Wikipedia, the free encyclopedia


Transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
Identifiers
Symbol(s) TGM1; ICR2; KTG; LI; LI1; TGASE; TGK
External IDs OMIM: 190195 MGI98730 HomoloGene306
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 7051 21816
Ensembl ENSG00000092295 ENSMUSG00000022218
Uniprot P22735 Q9JLF6
Refseq NM_000359 (mRNA)
NP_000350 (protein)
NM_019984 (mRNA)
NP_064368 (protein)
Location Chr 14: 23.79 - 23.8 Mb Chr 14: 54.65 - 54.67 Mb
Pubmed search [1] [2]

Transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase), also known as TGM1, is a human gene.[1]

Keratinocyte transglutaminase is a transglutaminase enzyme.

Contents

[edit] Pathology

A deficiency is associated with ichthyosis lamellaris.[2] Epidermal transglutaminase is the autoantigen, in humans, of dermatitis herpetiformis.

[edit] See also

[edit] References

  1. ^ Entrez Gene: TGM1 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase).
  2. ^ 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. PMID 9545389. 

[edit] 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 9384573. 

[edit] External links