InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TGM1

Summary

InnateDB Protein

IDBP-3759.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TGM1

Protein Name

transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)

Synonyms

ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK;

Species

Homo sapiens

Ensembl Protein

ENSP00000206765

InnateDB Gene

IDBG-3757 (TGM1)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Membrane; Lipid-anchor.

Disease Associations

Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]: 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. {ECO:0000269PubMed:11251583, ECO:0000269PubMed:11511296, ECO:0000269PubMed:19890349, ECO:0000269PubMed:7773290, ECO:0000269PubMed:7824952, ECO:0000269PubMed:9326318}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003810	protein-glutamine gamma-glutamyltransferase activity
GO:0005515	protein binding
GO:0046872	metal ion binding

Biological Process

GO:0006464	cellular protein modification process
GO:0009887	organ morphogenesis
GO:0018149	peptide cross-linking
GO:0030216	keratinocyte differentiation
GO:0031424	keratinization
GO:0043163	cell envelope organization