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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 (Transglutaminase 1) is a Protein Coding gene. Diseases associated with TGM1 include Ichthyosis, Congenital, Autosomal Recessive 1 and Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is F13A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003810 | protein-glutamine gamma-glutamyltransferase activity | IEA,IDA | 7961731 |
GO:0005515 | protein binding | IPI | 7592852 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001533 | cornified envelope | TAS | 8824274 |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA,IDA | 17762858 |
GO:0031224 | intrinsic component of membrane | IDA | 8824274 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Keratinization |
.33
|
|
2 | Developmental Biology |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006464 | cellular protein modification process | NAS | 1979171 |
GO:0010838 | positive regulation of keratinocyte proliferation | IMP | 26220141 |
GO:0018149 | peptide cross-linking | IEA,IDA | 9722562 |
GO:0030216 | keratinocyte differentiation | IDA | 8824274 |
GO:0031424 | keratinization | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
Cystamine dihydrochloride | 56-17-7 | |
LDN-27219 | Tgases inhibitor | 312946-37-5 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TGM1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TGM1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TGM1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tgm1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tgm1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TGM1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TGM1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tgm1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tgm1l1 30 31 |
|
OneToMany | |
TGM1 (1 of 6) 31 |
|
OneToMany | |||
tgm1l4 31 |
|
OneToMany | |||
tgm1 31 |
|
OneToMany | |||
TGM1 (6 of 6) 31 |
|
OneToMany | |||
tgm1l2 31 |
|
OneToMany | |||
Dr.11273 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3007 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Tg 30 31 |
|
OneToMany | |
CG7356 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009100 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10087 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
12494 | Pathogenic: Autosomal recessive congenital ichthyosis 1 | 24,261,778(-) | C/G | MISSENSE_VARIANT | |
653711 | Likely Pathogenic: not provided | 24,254,761(-) | GC/G | FRAMESHIFT_VARIANT | |
664642 | Pathogenic: not provided | 24,256,070(-) | GA/G | FRAMESHIFT_VARIANT | |
694521 | Pathogenic: Autosomal recessive congenital ichthyosis 1 | 24,259,180(-) | G/C | MISSENSE_VARIANT | |
709472 | Benign: Autosomal recessive congenital ichthyosis 1; not provided | 24,255,080(-) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
ichthyosis, congenital, autosomal recessive 1 |
|
|
autosomal recessive congenital ichthyosis |
|
|
ichthyosis |
|
|
acral self-healing collodion baby |
|
|
self-improving collodion baby |
|
|