TGM1 - transglutaminase 1 Gene
Also Known as LI; KTG; LI1; TGK; ICR2; ARCI1; TGASE
Species: Homo sapiens
About TGM1
This gene has 9 transcripts (splice variants), 1 gene allele, 322 orthologues, 8 paralogues and is associated with 7 phenotypes. Restricted expression toward esophagus (RPKM 291.1).
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]
TGM1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000359.3 | NP_000350.1 | protein-glutamine gamma-glutamyltransferase K |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
7592852 | GOA |
| enables protein-glutamine gamma-glutamyltransferase activity |
IDA
IDA: Inferred from direct assay
|
7961731 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in keratinocyte differentiation |
IDA
IDA: Inferred from direct assay
|
8824274 | GOA |
| involved in peptide cross-linking |
IDA
IDA: Inferred from direct assay
|
9722562 | GOA |
| involved in positive regulation of cell cycle |
IMP
IMP: Inferred from mutant phenotype
|
26220141 | GOA |
| involved in positive regulation of keratinocyte proliferation |
IMP
IMP: Inferred from mutant phenotype
|
26220141 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in membrane |
IDA
IDA: Inferred from direct assay
|
8824274 | GOA |
TGM1 Protein Structure
Transglut_N: Transglutaminase family (111 - 228)
Transglut_core: Transglutaminase-like superfamily (367 - 460)
Transglut_C: Transglutaminase family, C-terminal ig like domain (579 - 683)
Transglut_C: Transglutaminase family, C-terminal ig like domain (691 - 787)
- 0
- 200
- 400
- 600
- 817 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protein-glutamine gamma-glutamyltransferase K |
|
TGM1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TGM1 | P22735 | LCE1B | Homo sapiens | Q5T7P3 | 32296183 | |
|
Intra
|
TGM1 | P22735 | LCE4A | Homo sapiens | Q5TA78 | 32296183 | |
|
Intra
|
TGM1 | P22735 | VASN | Homo sapiens | Q6EMK4 | 32296183 | |
|
Intra
|
TGM1 | P22735 | NUBP2 | Homo sapiens | Q9Y5Y2 | 32296183 | |
|
Intra
|
TGM1 | P22735 | C1QTNF1 | Homo sapiens | Q9BXJ1-2 | 32296183 | |
|
Intra
|
TGM1 | P22735 | C1QTNF1 | Homo sapiens | Q9BXJ1-2 | 32296183 | |
|
Intra
|
TGM1 | P22735 | C1QTNF1 | Homo sapiens | Q9BXJ1-2 | 32296183 | |
|
Intra
|
TGM1 | P22735 | LCE1E | Homo sapiens | Q5T753 | 32296183 | |
|
Intra
|
TGM1 | P22735 | ACADL | Homo sapiens | P28330 | 32296183 | |
|
Intra
|
TGM1 | P22735 | JOSD1 | Homo sapiens | Q15040 | 32296183 | |
|
Intra
|
TGM1 | P22735 | MYPOP | Homo sapiens | Q86VE0 | 32296183 | |
|
Intra
|
TGM1 | P22735 | KRTAP5-9 | Homo sapiens | P26371 | 32296183 | |
|
Intra
|
TGM1 | P22735 | VSTM4 | Homo sapiens | Q8IW00 | 32296183 | |
|
Intra
|
TGM1 | P22735 | DOCK2 | Homo sapiens | Q92608 | 32296183 | |
|
Intra
|
TGM1 | P22735 | SULT4A1 | Homo sapiens | Q9BR01 | 32296183 | |
|
Intra
|
TGM1 | P22735 | NECTIN2 | Homo sapiens | Q92692-2 | 32296183 | |
|
Intra
|
TGM1 | P22735 | CRCT1 | Homo sapiens | Q9UGL9 | 32296183 | |
|
Intra
|
TGM1 | P22735 | TRAPPC14 | Homo sapiens | Q8WVR3 | 32296183 | |
|
Intra
|
TGM1 | P22735 | KRTAP4-12 | Homo sapiens | Q9BQ66 | 32296183 | |
|
Intra
|
TGM1 | P22735 | CNNM3 | Homo sapiens | Q8NE01 | 32296183 | |
|
Intra
|
TGM1 | P22735 | IGSF8 | Homo sapiens | Q969P0 | 32296183 | |
|
Intra
|
TGM1 | P22735 | LCE3A | Homo sapiens | Q5TA76 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
|
| Autosomal Recessive Congenital Ichthyosis |
|
|
| Ichthyosis |
|
|
| Acral Self-Healing Collodion Baby |
|
|
| Skin Disease |
|
|
| Self-Improving Collodion Baby |
|
|
| Ectropion |
|
|
| Netherton Syndrome |
|
|
| Ichthyosis, Congenital, Autosomal Recessive 4b |
|
|
| Ichthyosis, X-Linked |
|
|
| Balanitis Xerotica Obliterans |
|
|
| Vohwinkel Syndrome |
|
|
| Elastosis Perforans Serpiginosa |
|
|
| Cicatricial Ectropion |
|
|
| Balanitis |
|
|
| Syphilitic Encephalitis |
|
|
| Severe Cutaneous Adverse Reaction |
|
|
| Keratosis |
|
|
| Ichthyosis, Congenital, Autosomal Recessive 4a |
|
|
| Eyelid Disease |
|
|
| Epidermolytic Hyperkeratosis |
|
|
| Dermatitis Herpetiformis |
|
|
| Lipoma Of Colon |
|
|
| Large Intestine Lipoma |
|
|
| Congenital Hypothyroidism |
|
|
| Peeling Skin Syndrome |
|
|
| Trichothiodystrophy 1, Photosensitive |
|
|
| Psoriasis |
|
|
| Ichthyosis Vulgaris |
|
|
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
|
| X-Linked Chondrodysplasia Punctata 2 |
|
|
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
|
| Spastic Paraplegia 17, Autosomal Dominant |
|
|
| Holocarboxylase Synthetase Deficiency |
|
|
| Silver-Russell Syndrome 1 |
|
|
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
|
| Kallmann Syndrome |
|
|
| Fraser Syndrome 1 |
|
|
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
|
| Omphalocele |
|
|
| Pachyonychia Congenita 1 |
|
|
| Beckwith-Wiedemann Syndrome |
|
|
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
|
| Huntington Disease |
|
|
| Physical Disorder |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | TGM1 | VGNC | VGNC:47315 |
| Felis catus | TGM1 | VGNC | VGNC:66141 |
| Bos taurus | TGM1 | VGNC | VGNC:35809 |
| Rattus norvegicus | TGM1 | RGD | RGD:61838 |
| Mus musculus | TGM1 | MGD | MGI:98730 |
| Macaca mulatta | TGM1 | VGNC | VGNC:99267 |
| Others | TGM1 | NCBI |