Homo sapiens Gene: TGM1
Summary
InnateDB Gene IDBG-3757.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TGM1
Gene Name transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
Synonyms ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Species Homo sapiens
Ensembl Gene ENSG00000092295
Encoded Proteins
transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:24249114-24264432
Strand Reverse strand
Band q12
Transcripts
ENST00000206765 ENSP00000206765
ENST00000544573 ENSP00000439446
ENST00000559669 ENSP00000453701
ENST00000559136 ENSP00000453337
ENST00000558074 ENSP00000453840
ENST00000560443 ENSP00000452822
ENST00000560478 ENSP00000453234
ENST00000560226 ENSP00000454070
ENST00000561067 ENSP00000452690
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
Cellular Component
GO:0001533 cornified envelope
GO:0005913 cell-cell adherens junction
GO:0031224 intrinsic component of membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL H0YLJ6 H0YNM4
UniProt Splice Variant
Entrez Gene 7051
UniGene Hs.508950 Hs.705334
RefSeq NM_000359
HUGO HGNC:11777
OMIM 190195
CCDS CCDS9622
HPRD 01824
IMGT
EMBL AL096870
GenPept
RNA Seq Atlas 7051