TGM1 (transglutaminase 1)

2007-02-01  

Identity

HGNC
LOCATION
14q12
LOCUSID
ALIAS
ARCI1,ICR2,KTG,LI,LI1,TGASE,TGK

Other Information

Locus ID:

NCBI: 7051
MIM: 190195
HGNC: 11777
Ensembl: ENSG00000092295

Variants:

dbSNP: 7051
ClinVar: 7051
TCGA: ENSG00000092295
COSMIC: TGM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000092295ENST00000206765P22735
ENSG00000092295ENST00000544573P22735
ENSG00000092295ENST00000558074H0YN27
ENSG00000092295ENST00000559136H0YLT9
ENSG00000092295ENST00000559669H0YMQ8
ENSG00000092295ENST00000560226H0YNM4
ENSG00000092295ENST00000560443H0YKI6
ENSG00000092295ENST00000560478H0YLJ6
ENSG00000092295ENST00000561067A0A0G2JL93

Expression (GTEx)

0
100
200
300
400
500
600
700

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
382339822024THBS1 promotes angiogenesis and accelerates ESCC malignant progression by the HIF-1/VEGF signaling pathway.1
384724892024A pan-cancer analysis of the oncogenic and immunological roles of transglutaminase 1 (TGM1) in human cancer.0
382339822024THBS1 promotes angiogenesis and accelerates ESCC malignant progression by the HIF-1/VEGF signaling pathway.1
384724892024A pan-cancer analysis of the oncogenic and immunological roles of transglutaminase 1 (TGM1) in human cancer.0
366767272023Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.0
367899642023Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.0
375425302023Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.0
380573942023Cornification of keratinocytes is associated with differential changes in the catalytic activity and the immunoreactivity of transglutaminase-1.1
380600402023Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.0
366767272023Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.0
367899642023Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.0
375425302023Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.0
380573942023Cornification of keratinocytes is associated with differential changes in the catalytic activity and the immunoreactivity of transglutaminase-1.1
380600402023Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.0
363617422022Deep Association between Transglutaminase 1 and Tissue Eosinophil Infiltration Leading to Nasal Polyp Formation and/or Maintenance with Fibrin Polymerization in Chronic Rhinosinusitis with Nasal Polyps.0

Citation

Dessen P

TGM1 (transglutaminase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46325/tgm1