Property Summary

NCBI Gene PubMed Count 107
PubMed Score 375.05
PubTator Score 522.60

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
esophageal adenocarcinoma -3.700 1.8e-02
psoriasis 3.400 4.7e-06
osteosarcoma 1.128 4.3e-05
lung adenocarcinoma -1.800 1.8e-12
ovarian cancer -1.700 8.9e-04

Protein-protein Interaction (6)

Gene RIF (66)

PMID Text
26220141 Our results thus indicated that the TGM1 mutation affects the formation of corni fi ed cell envelope by multiple mechanisms and leads to an almost identical clinical phenotype of generalized erythema and scales.
25754682 Two siblings with autosomal recessive congenital ichthyosis, were found to carry a novel aetiological TGM1 mutation that leads to the synthesis of multiple abnormal transcripts.
25180191 Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis.
25154629 In this study, we found that 14 different TGM1 mutations have been identified and reported in 13 individuals with ARCI from 8 families with congental ichthyosis, comprising 9 missense mutations, 1 deletion and 1 splice-site mutation .
24885370 IgA-anti-TG1 antibodies were found in 2% and IgA-anti-TG3 antibodies in 3% of patients with active atopic dermatitis (AD). Two out of the 5 patients with AD and concomitant celiac disease had IgA-anti-TG1 and IgA-anti-TG2 antibodies.
24314425 We add a Korean case of genetically identified autosomal recessive congenital icthyosis, confirmed by the presence of compound heterozygous mutations in the TGM1 gene.
24261627 All mutations, except a novel deletion of a single nucleotide in exon 13 (c.2149delC), have been reported previously in lamellar ichthyosis.
24112124 mRNA expression of transglutaminase 1 and transglutaminase 3 was significantly decreased in patients with chronic periodontitis compared with a healthy control group.
23895935 analysis of a case of mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe [case report]
23689228 Two known pathogenic TGM1 mutations were detected in three large consanguineous Omani families with lamellar ichthyosis
23621129 Most of the mutations we identified in 20 israeli families with autosomal recessive congenital ichthyosis were located within the coding sequence of the TGM1 gene
23290633 FATP4, ichthyin and TGM1 interact in lipid processing essential for maintaining the epidermal barrier function
23278109 TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis.
23192619 Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.
23189155 Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
23096117 Two transition/transversion (R37G, V112A), two nonsense mutations and two putative splice site of TGM1 are associated with lamellar ichthyosis.
22972431 GGT may have a role in change in body mass index but not in waist cirumference
22801880 These findings confirm the hypothesis that only a restricted spectrum of TGM1 mutations leads to a bathing suit ichthyosis and/or a self-improving collodion ichthyosis phenotype.
22622417 Autosomal recessive congenital ichthyosis patients with ALOX12B mutations and abnormal 12R-LOX expression, the colocalization signal for eLOX-3 and TGM1 was increased 4-fold.
22511925 Two mutations of the TGM1 gene,c.2278C>T and c.1223_1227delACACA which are observed in high frequency in Galician patients with autosomal recessive congenital ichthyosis, were most likely founded in the Galician territory instead of being brought here by migrants.
22435431 Our splicing assay, together with bioinformatic prediction tools, supports the pathological effect of the recently identified c.984+1G>A mutation in the TGM1 gene and unravels the molecular mechanism by which c.984+1G>A acts.
22311480 TGM1 genotypes of the family were used to determine parental origins of the mutations.
22220473 Transglutaminase in epidermis and neurological disease.
22080209 TG1 and TG2 isoenzymes are highly active with the major activity attributed to TG1 in human saliva.
22009441 We conclude that TG1-catalysed cross-linking, regulated by TIG3, might play an important role in the formation of neuronal tau inclusions in certain tauopathies
21789544 beta-actin is a target for the activity of recombinant human transglutaminase 1 in cultured chick telecephalon cell cultures.
21248772 These data indicate that loss of E2F7 during the initiation of differentiation leads to the derepression of Sp1 and subsequent transcription of differentiation-specific genes such as epidermal type I transglutaminase.
20663883 misfolding of TG1 mutants leads to ubiquitinylation and accumulation in the ER and aggresomes, and that abnormal intracellular processing of TG1 mutants may be an underlying cause of ichthyosis.
20167857 Transglutaminase1 and its preferred substrate peptide K5 have a role in lamellar ichthyosis
20080707 findings identify tissue transglutaminase as a key participant in an EGFR/Src-signaling pathway in breast-cancer cells and a potential target for inhibiting EGFR-promoted tumor progression.
19890349 ALOX12B mutations are the leading cause of self-improving collodion ichthyosis in Scandinavia, followed by ALOXE3 mutations, and TGM1 mutations
19863506 Mutations are closely related to previously described ones in bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis and clustered in exons 5, 6 and 7 of TMG1
19692168 Observational study of gene-disease association. (HuGE Navigator)
19646949 A specific colorimetric assay for measuring transglutaminase 1 activity is reported.
19625176 Observational study of gene-disease association. (HuGE Navigator)
19556108 Case Report: Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1.
19516268 epidermal transglutaminase may have autoantibodies in dermatitis herpetiformis and celiac disease
19486042 four novel mutations in TGM1 gene result in decrease or absence of TGase activity in the skin and, as a consequence, cause the phenotype of autosomal recessive lamellar ichthyosis
19464759 TG1-catalyzed cross-linking and consequent polymerization of cytoskeletal and cytoskeleton-associated proteins may underlie corpora amylacea formation.
19386600 role for cell surface tTG in the regulation of the joint PDGFR/integrin signaling and PDGFR-dependent cell responses
19343046 Observational study of gene-disease association. (HuGE Navigator)
19241467 Study expands the TGM1 mutation spectrum and summarizes the current knowledge of TGM1 mutations.
19241467 Observational study of gene-disease association. (HuGE Navigator)
19197536 The results suggest that liarozole exerts a therapeutic effect in lamellar ichthyosis by mildly affecting the expression of retinoid- regulated genes in epidermis.
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18948357 transglutaminase-1 mutation spectrum and confirms that despite genetic and phenotypic heterogeneity in Autosomal recessive congenital ichthyosis
18948357 Observational study of gene-disease association. (HuGE Navigator)
18676680 Observational study of gene-disease association. (HuGE Navigator)
18673368 Transglutaminases demonstrate cross-linking activity in Alzheimer lesions, suggesting TG1 and TG2 are involved in protein aggregation processes underlying formation of senile plaques, amyloid angiopathy and/or neurofibrillary tangles in Alzhemier disease.
18397883 Transglutaminase induces protofibril-like amyloid beta-protein assemblies that are protease-resistant and inhibit long-term potentiation
17762854 intestinal damage is associated with the production of anti-tTG IgA and anti-TGe IgA in dermatitis herpetiformis patients
17672918 occurrence of an unusual TG 3' splice site in intron 6
17024410 a three-dimensional model of the human transglutaminase 1 provides insights into the understanding of lamellar ichthyosis
16604191 Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase
16530159 Vitamin E treatment also led to increased expression of a known PPARgamma target gene involved in terminal keratinocytes differentiation, the transglutaminase-1.
16133457 a non-invasive assessment of scale, nail and hair could be of diagnostic utility in distinguishing patients across a full range of phenotypes with deficiency in TGM1-encoded enzymeactivity from other causes of autosomal recessive ichthyosis.
15805105 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
15715085 In HEK 293T cell culture, transglutaminase 1 cross-links the N-terminal fragments of mutant huntingtin protein, therefore it could be involved in the cross-linking of huntingtin into intranuclear inclusions in Huntington disease.
15665393 analysis of transglutaminase 1 mutations in autosomal recessive congenital ichthyosis in Egyptian families
15313180 Treatment of human umbilical vein endothelial cells (HUVEC) with atorvastatin (1-10 microM) caused a clear increased expression of tTgase in both permeabilised and non-permeabilised HUVEC.
15304086 LEKTI deficiency in the epidermis and in hair roots at the protein level and an aberrant expression of other proteins, especially transglutaminase1 and 3, which may account for the impaired epidermal barrier in Netherton syndrome
12928434 transglutaminase 1 has a role in keratinocyte terminal differentiation after activation by TIG3
12654631 This enzyme is expressed in vivo in normal lung, preinvasive bronchial lesions, and lung cancer.
12054678 proposed that tTGase-mediated cross-linking is an another form of core histone modification and it may play a role of chromatin condensation during erythrocyte differentiation
7906657 The HIV-1 transmembrane glycoprotein gp41 is an amino acceptor and donor substrate for transglutaminase in vitro; soluble CD4 can block the transglutaminase-catalyzed incorporation of the polyamine spermidine into HIV-1 gp41
7688299 The HIV-1 transmembrane glycoprotein gp41 is an amino acceptor and donor substrate for transglutaminase in vitro; soluble CD4 can block the transglutaminase-catalyzed incorporation of the polyamine spermidine into HIV-1 gp41

AA Sequence

MMDGPRSDVGRWGGNPLQPPTTPSPEPEPEPDGRSRRGGGRSFWARCCGCCSCRNAADDDWGPEPSDSRG      1 - 70
RGSSSGTRRPGSRGSDSRRPVSRGSGVNAAGDGTIREGMLVVNGVDLLSSRSDQNRREHHTDEYEYDELI     71 - 140
VRRGQPFHMLLLLSRTYESSDRITLELLIGNNPEVGKGTHVIIPVGKGGSGGWKAQVVKASGQNLNLRVH    141 - 210
TSPNAIIGKFQFTVRTQSDAGEFQLPFDPRNEIYILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTE    211 - 280
AQIGERTWNYGQFDHGVLDACLYILDRRGMPYGGRGDPVNVSRVISAMVNSLDDNGVLIGNWSGDYSRGT    281 - 350
NPSAWVGSVEILLSYLRTGYSVPYGQCWVFAGVTTTVLRCLGLATRTVTNFNSAHDTDTSLTMDIYFDEN    351 - 420
MKPLEHLNHDSVWNFHVWNDCWMKRPDLPSGFDGWQVVDATPQETSSGIFCCGPCSVESIKNGLVYMKYD    421 - 490
TPFIFAEVNSDKVYWQRQDDGSFKIVYVEEKAIGTLIVTKAISSNMREDITYLYKHPEGSDAERKAVETA    491 - 560
AAHGSKPNVYANRGSAEDVAMQVEAQDAVMGQDLMVSVMLINHSSSRRTVKLHLYLSVTFYTGVSGTIFK    561 - 630
ETKKEVELAPGASDRVTMPVAYKEYRPHLVDQGAMLLNVSGHVKESGQVLAKQHTFRLRTPDLSLTLLGA    631 - 700
AVVGQECEVQIVFKNPLPVTLTNVVFRLEGSGLQRPKILNVGDIGGNETVTLRQSFVPVRPGPRQLIASL    701 - 770
DSPQLSQVHGVIQVDVAPAPGDGGFFSDAGGDSHLGETIPMASRGGA                           771 - 817
//

Text Mined References (109)

PMID Year Title
26220141 2016 Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis.
25754682 2015 A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.
25180191 2014 A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.
25154629 2015 Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.
24885370 2014 Low prevalence of IgA anti-transglutaminase 1, 2, and 3 autoantibodies in children with atopic dermatitis.
24314425 2013 A novel TGM1 splicing mutation in a collodion baby with cicatricial ectropion.
24261627 2014 Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis.
24112124 2014 Differential expression of transglutaminase genes in patients with chronic periodontitis.
23895935 2013 Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe.
23689228 2013 Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.
23621129 2013 Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.
23290633 2013 Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis.
23278109 2013 Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.
23192619 2013 Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.
23189155 2012 Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
23096117 2012 Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.
22972431 2013 Comparison of the impact of changes in waist circumference and body mass index in relation to changes in serum gamma-glutamyltransferase levels.
22801880 2012 Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis.
22622417 2012 The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.
22511925 2012 Multiple local and recent founder effects of TGM1 in Spanish families.
22435431 2012 Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.
22311480 2012 [Novel compound heterozygous mutations of TGM1 gene identified in a Chinese collodion baby].
22220473 2011 Transglutaminase in epidermis and neurological disease or what makes a good cross-linking substrate.
22080209 2013 Identification of human salivary transglutaminases.
22009441 2012 Transglutaminase 1 and its regulator tazarotene-induced gene 3 localize to neuronal tau inclusions in tauopathies.
21789544 2012 Beta-actin is a target for transglutaminase activity at synaptic endings in chicken telencephalic cell cultures.
21282207 2011 Hornerin is a component of the epidermal cornified cell envelopes.
21248772 2011 Loss of E2F7 expression is an early event in squamous differentiation and causes derepression of the key differentiation activator Sp1.
20663883 2010 Type I transglutaminase accumulation in the endoplasmic reticulum may be an underlying cause of autosomal recessive congenital ichthyosis.
20167857 2010 Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.
20080707 2010 EGF potentiated oncogenesis requires a tissue transglutaminase-dependent signaling pathway leading to Src activation.
19890349 2010 Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.
19863506 2010 Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19646949 2009 A specific colorimetric assay for measuring transglutaminase 1 and factor XIII activities.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19556108 2009 Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1.
19516268 2009 IgA anti-epidermal transglutaminase antibodies in dermatitis herpetiformis and pediatric celiac disease.
19486042 2009 New mutations in the transglutaminase 1 gene in three families with lamellar ichthyosis.
19464759 2011 Novel role of transglutaminase 1 in corpora amylacea formation?
19386600 2009 Regulation of platelet-derived growth factor receptor function by integrin-associated cell surface transglutaminase.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19241467 2009 Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
19197536 2009 Expression of retinoid-regulated genes in lamellar ichthyosis vs. healthy control epidermis: changes after oral treatment with liarozole.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
18948357 2009 Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18673368 2009 Transglutaminases and transglutaminase-catalyzed cross-links colocalize with the pathological lesions in Alzheimer's disease brain.
18397883 2008 Transglutaminase induces protofibril-like amyloid beta-protein assemblies that are protease-resistant and inhibit long-term potentiation.
17762854 2008 Transglutaminase autoantibodies in dermatitis herpetiformis and celiac sprue.
17672918 2007 Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
17024410 2007 A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis.
16604191 2006 Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase.
16530159 2006 Increased expression of transglutaminase-1 and PPARgamma after vitamin E treatment in human keratinocytes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16133457 2005 Structural changes in epidermal scale and appendages as indicators of defective TGM1 activity.
15846304 2005 A novel transglutaminase activator forms a complex with type 1 transglutaminase.
15805105 2005 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.
15715085 2005 Mutant huntingtin protein: a substrate for transglutaminase 1, 2, and 3.
15665393 2004 Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15313180 2004 Atorvastatin induces tissue transglutaminase in human endothelial cells.
15304086 2004 SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14645372 2004 Structural basis for the coordinated regulation of transglutaminase 3 by guanine nucleotides and calcium/magnesium.
12928434 2003 A novel tumor suppressor protein promotes keratinocyte terminal differentiation via activation of type I transglutaminase.
12721789 2003 Catalog of 680 variations among eight cytochrome p450 ( CYP) genes, nine esterase genes, and two other genes in the Japanese population.
12654631 2003 In vivo transglutaminase type 1 expression in normal lung, preinvasive bronchial lesions, and lung cancer.
12542526 2003 Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation.
12508121 2003 The DNA sequence and analysis of human chromosome 14.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12397374 2002 Crucial role of fibroblasts in regulating epidermal morphogenesis.
12100179 2002 Subcorneal colocalization of the small heat shock protein, hsp27, with keratins and proteins of the cornified cell envelope.
12054678 2002 Histone cross-linking by transglutaminase.
11511296 2001 Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis.
11390390 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.
11298529 2001 Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.
11251583 2001 Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.
10914678 2000 Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.
10510474 1999 Transglutaminase crosslinking and structural studies of the human small proline rich 3 protein.
10405818 1999 Expression of transglutaminase K in normal cervix tissue and cervix carcinomas.
10196183 1999 Involucrin cross-linking by transglutaminase 1. Binding to membranes directs residue specificity.
10066784 1999 Transglutaminase cross-linking properties of the small proline-rich 1 family of cornified cell envelope proteins. Integration with loricrin.
9887377 Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.
9863908 1998 Correlation between immunoreactivity for transglutaminase K and for markers of proliferation and differentiation in normal breast tissue and breast carcinomas.
9722562 1998 Structural and transglutaminase substrate properties of the small proline-rich 2 family of cornified cell envelope proteins.
9523691 1998 Semenogelin I and semenogelin II, the major gel-forming proteins in human semen, are substrates for transglutaminase.
9516464 1998 The intermediate filament protein, vimentin, in the lens is a target for cross-linking by transglutaminase.
9446578 1998 Identification of transglutaminase-reactive residues in S100A11.
9384573 1997 Solution structure of midkine, a new heparin-binding growth factor.
9359043 Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity.
9346937 1997 The fate of trichohyalin. Sequential post-translational modifications by peptidyl-arginine deiminase and transglutaminases.
9326318 1997 Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.
8973564 1996 Identification of phosphorylation sites in keratinocyte transglutaminase.
8824274 1996 The transglutaminase 1 enzyme is variably acylated by myristate and palmitate during differentiation in epidermal keratinocytes.
7961731 1994 The structure of the transglutaminase 1 enzyme. Deletion cloning reveals domains that regulate its specific activity and substrate specificity.
7824952 1995 Mutations of keratinocyte transglutaminase in lamellar ichthyosis.
7773290 1995 Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.
7592852 1995 Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein.
1979171 1990 Primary structure of keratinocyte transglutaminase.
1704039 1991 Isolation of cDNA for human epidermal type I transglutaminase.
1673840 1991 Molecular cloning of human epidermal transglutaminase cDNA from keratinocytes in culture.
1670769 1991 The complete amino acid sequence of the human transglutaminase K enzyme deduced from the nucleic acid sequences of cDNA clones.
1381356 1992 Structure of the gene for human transglutaminase 1.
1351505 1992 Type I keratinocyte transglutaminase: expression in human skin and psoriasis.
1350092 1992 Organization and evolution of the human epidermal keratinocyte transglutaminase I gene.
1348508 1992 Structure and organization of the human transglutaminase 1 gene.
1346394 1992 Genomic structure of keratinocyte transglutaminase. Recruitment of new exon for modified function.