TGM1

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]

Full Name

TGM1 Gene(Protein Coding) Transglutaminase 1

Function

Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross-linking epidermal proteins during formation of the stratum corneum. Involved in cell proliferation (PubMed:26220141).

Biological Process

Biological Process cell envelope organizationManual Assertion Based On ExperimentTAS:UniProtKB
Biological Process keratinizationIEA:UniProtKB-KW
Biological Process keratinocyte differentiationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process peptide cross-linkingManual Assertion Based On ExperimentIDA:CAFA
Biological Process positive regulation of cell cycleManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of keratinocyte proliferationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process protein modification process1 PublicationNAS:UniProtKB

Cellular Location

Membrane

Involvement in disease

Ichthyosis, congenital, autosomal recessive 1 (ARCI1):
A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

PTM

Palmitoylated.
The membrane anchorage region possesses a cluster of five cysteines within which fatty acid(s) may become thioester-linked. It is subject to phorbol ester-stimulated phosphorylation and is hypersensitive to proteolysis, which releases the enzyme in a soluble form.
Tyrosine-phosphorylated.