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Description for Protein TGM1

transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
5 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • TGC: Transglutaminase/protease-like homologues
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.3.2.13
    KEGG - Orthology:
    K05619
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Transglutaminase, Keratinocyte; TGK; Transglutaminase, Epidermal Type I; K polypeptide epidermal type I; Protein glutamine gamma glutamyltransferase
    Approved Symbol:
    TGM1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 8
    Human (de-) phosphorylation sites: 8; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • L-Glutamine(db)

    Associated Genetic Diseases:

  • Ichthyosiform erythroderma, congenital, nonbullous, 1(Pd);
  • Ichthyosis, lamellar, autosomal recessive(Pd);
  • Ichthyosis, lamellar, autosomal recessive, with sparing of limbs(Pd);
  • Self-healing collodion baby(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01824 Entrez Gene ID: 7051 OMIM ID: 190195 Swissprot Accession: P22735;