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
166041912006Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase.67
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
186733682009Transglutaminases and transglutaminase-catalyzed cross-links colocalize with the pathological lesions in Alzheimer's disease brain.29
193866002009Regulation of platelet-derived growth factor receptor function by integrin-associated cell surface transglutaminase.26
192414672009Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.25
192414672009Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.25
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.25
183978832008Transglutaminase induces protofibril-like amyloid beta-protein assemblies that are protease-resistant and inhibit long-term potentiation.24
129284342003A novel tumor suppressor protein promotes keratinocyte terminal differentiation via activation of type I transglutaminase.21
200807072010EGF potentiated oncogenesis requires a tissue transglutaminase-dependent signaling pathway leading to Src activation.21

Citation

Dessen P

TGM1 (transglutaminase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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