Property Summary

NCBI Gene PubMed Count 107
Grant Count 100
R01 Count 63
Funding $26,141,706.39
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 0.018
psoriasis 3.400 0.000
osteosarcoma 1.128 0.000
lung adenocarcinoma -1.800 0.000
ovarian cancer -1.700 0.001

Synonym

Accession P22735 B4DWR7 Q197M4
Symbols LI
KTG
LI1
TGK
ICR2
ARCI1
TGASE

Gene

PANTHER Protein Class (2)

PDB

2XZZ  

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
More...

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.
More...