TGM1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TGM1 |
| Official Name | transglutaminase 1 [Source:HGNC Symbol;Acc:HGNC:11777] |
| Ensembl ID | ENSG00000092295 |
| Bio databases IDs | |
| Aliases | transglutaminase 1, K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase |
| Synonyms | 2310004J08Rik, ARCI1, Epidermal transglutaminase, ERYTHROCYTE TRANSGLUTAMINASE, ICR2, KTG, LI, LI1, Tg1, TGASE, Tgase1, TGase K, TGK, transglutaminase 1, transglutaminase 1, K polypeptide, transglutaminase I, Transglutaminase K |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TGM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Transglutaminase-like superfamily
- Transglutaminase/protease-like homologues
- protein-glutamine gamma-glutamyltransferase
- enzyme
- protein binding
- Transglutaminase family, C-terminal ig like domain
- identical protein binding
- Transglutaminase family
Pathways
Biological processes and signaling networks where the TGM1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- leiomyomatosis
- autosomal recessive congenital ichthyosis type 1
- hyperkeratosis
- lamellar ichthyosis
- progressive supranuclear palsy
- psoriasis
- Huntington disease
- ichthyosis
- autosomal recessive ichthyosis
role in cell
- proliferation
- apoptosis
- formation
- cell death
- differentiation
- binding in
- organization
- survival
- cell cycle progression
- cross-linkage in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- cornified envelope
- Cytoplasm
- intracellular space
- cellular membrane
- Nucleus
- Golgi Apparatus
- intercellular junctions
- cell-cell contacts
- cytoplasmic aggregates
- cytosol
- basolateral membrane
- anchoring junction
- cell-cell adherens junctions
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TGM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein modification process
- positive regulation of keratinocyte proliferation
- keratinocyte differentiation
- cell envelope organization
- positive regulation of cell cycle
- peptide cross-linking
- keratinization
Cellular Component
Where in the cell the gene product is active
- cornified envelope
- extracellular vesicular exosome
- membrane
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein-glutamine gamma-glutamyltransferase activity
- protein binding
- metal ion binding