Gene

TGM1

Species
Homo sapiens
Symbol
TGM1
Name
transglutaminase 1
Synonyms
  • ARCI1
  • epidermal TGase
Biotype
protein coding gene
Automated Description
Enables identical protein binding activity and protein-glutamine gamma-glutamyltransferase activity. Involved in several processes, including keratinocyte differentiation; peptide cross-linking; and positive regulation of keratinocyte proliferation. Located in membrane. Implicated in autosomal recessive congenital ichthyosis 1.
RGD Description
The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11590
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
24.250M24.252M24.254M24.256M24.258M24.260M24.262M24.264M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions