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Aliases for TGM1 Gene

Aliases for TGM1 Gene

  • Transglutaminase 1 2 3
  • Transglutaminase K 3 4
  • Transglutaminase-1 3 4
  • Epidermal TGase 3 4
  • EC 4 63
  • TGase K 3 4
  • TGase-1 3 4
  • ARCI1 3 6
  • TG(K) 3 4
  • ICR2 3 6
  • KTG 3 4
  • TGK 3 4
  • Transglutaminase 1 (K Polypeptide Epidermal Type I, Protein-Glutamine-Gamma-Glutamyltransferase) 2
  • K Polypeptide Epidermal Type I, Protein-Glutamine-Gamma-Glutamyltransferase 3
  • Protein-Glutamine Gamma-Glutamyltransferase K 3
  • Protein-Glutamine-Gamma-Glutamyltransferase 2
  • K Polypeptide Epidermal Type I 2
  • Transglutaminase, Keratinocyte 3
  • Transglutaminase 1 Isoform 3
  • TGASE 3
  • LI1 3
  • LI 3

External Ids for TGM1 Gene

Previous HGNC Symbols for TGM1 Gene

  • ICR2

Previous GeneCards Identifiers for TGM1 Gene

  • GC14M022090
  • GC14M018505
  • GC14M022708
  • GC14M023788
  • GC14M024718
  • GC14M004833

Summaries for TGM1 Gene

Entrez Gene Summary for TGM1 Gene

  • 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]

GeneCards Summary for TGM1 Gene

TGM1 (Transglutaminase 1) is a Protein Coding gene. Diseases associated with TGM1 include ichthyosis, congenital, autosomal recessive 1 and autosomal recessive congenital ichthyosis. GO annotations related to this gene include protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is F13A1.

UniProtKB/Swiss-Prot for TGM1 Gene

  • 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

Gene Wiki entry for TGM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGM1 Gene

Genomics for TGM1 Gene

Regulatory Elements for TGM1 Gene

Genomic Location for TGM1 Gene

24,249,114 bp from pter
24,264,432 bp from pter
15,319 bases
Minus strand

Genomic View for TGM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TGM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGM1 Gene

Proteins for TGM1 Gene

  • Protein details for TGM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein-glutamine gamma-glutamyltransferase K
    Protein Accession:
    Secondary Accessions:
    • B4DWR7
    • Q197M4

    Protein attributes for TGM1 Gene

    817 amino acids
    Molecular mass:
    89787 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds 1 Ca(2+) ion per subunit.;
    Quaternary structure:
    No Data Available
    • Sequence=AAA61166.1; Type=Frameshift; Positions=16; Evidence={ECO:0000305}; Sequence=M86360; Type=Frameshift; Positions=16, 421, 651; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TGM1 Gene

    Alternative splice isoforms for TGM1 Gene


neXtProt entry for TGM1 Gene

Proteomics data for TGM1 Gene at MOPED

Post-translational modifications for TGM1 Gene

  • The membrane anchorage region possesses a cluster of five cysteines within which fatty acid(s) may become thioester-linked. It is subject to phorbol ester-stimulated phosphorylation and is hypersensitive to proteolysis, which releases the enzyme in a soluble form.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains for TGM1 Gene

Gene Families for TGM1 Gene

Suggested Antigen Peptide Sequences for TGM1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the transglutaminase superfamily. Transglutaminase family.
  • Belongs to the transglutaminase superfamily. Transglutaminase family.
genes like me logo Genes that share domains with TGM1: view

Function for TGM1 Gene

Molecular function for TGM1 Gene

GENATLAS Biochemistry:
keratinocyte transglutaminase,K polypeptide,epidermal,type I (92kDa),membrane associated,crosslinking the structural components SPRRs,IVL and LOR for the formation of cornified enveloppe,also binding omega-hydroxyceramides to evolucrin by ester bond formation in the terminal step of the differentiation programme of epidermal keratinocytes
UniProtKB/Swiss-Prot CatalyticActivity:
Protein glutamine + alkylamine = protein N(5)-alkylglutamine + NH(3).
UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for TGM1 Gene

Gene Ontology (GO) - Molecular Function for TGM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003810 protein-glutamine gamma-glutamyltransferase activity IDA 21282207
GO:0005515 protein binding IPI 10066784
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TGM1: view
genes like me logo Genes that share phenotypes with TGM1: view

Animal Models for TGM1 Gene

MGI Knock Outs for TGM1:

Animal Model Products

miRNA for TGM1 Gene

miRTarBase miRNAs that target TGM1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TGM1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for TGM1 Gene

Localization for TGM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGM1 Gene

Membrane; Lipid-anchor.

Subcellular locations from

Jensen Localization Image for TGM1 Gene COMPARTMENTS Subcellular localization image for TGM1 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
chloroplast 2
extracellular 2
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for TGM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS 8824274
GO:0005913 cell-cell adherens junction IEA --
GO:0031224 intrinsic component of membrane IDA 8824274
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with TGM1: view

Pathways for TGM1 Gene

SuperPathways for TGM1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TGM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process NAS 1979171
GO:0009887 organ morphogenesis IEA --
GO:0018149 peptide cross-linking IEA --
GO:0030216 keratinocyte differentiation IDA 8824274
GO:0031424 keratinization IEA --
genes like me logo Genes that share ontologies with TGM1: view

No data available for Pathways by source for TGM1 Gene

Drugs for TGM1 Gene

(1) Drugbank Compounds for TGM1 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • (2S)-2-amino-4-carbamoylbutanoic acid
56-85-9 Enzyme substrate approved, investigational, nutraceutical

(3) HMDB Compounds for TGM1 Gene

Compound Synonyms Cas Number PubMed IDs
  • Ammonia anhydrous
  • Ca
  • (2S)-2,5-diamino-5-oxopentanoate

(22) Novoseek inferred chemical compound relationships for TGM1 Gene

Compound -log(P) Hits PubMed IDs
collodion 83.4 12
epsilon-(gamma-glutamyl)lysine 72.7 1
cholesterol-sulfate 68.1 7
1,25 dihydroxy vitamin d3 49.6 1
monodansylcadaverine 49.2 1
genes like me logo Genes that share compounds with TGM1: view

Transcripts for TGM1 Gene

Unigene Clusters for TGM1 Gene

Transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TGM1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TGM1 Gene

No ASD Table

Relevant External Links for TGM1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TGM1 Gene

mRNA expression in normal human tissues for TGM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TGM1 Gene

This gene is overexpressed in Esophagus - Mucosa (29.6), Minor Salivary Gland (5.7), and Vagina (4.4).

Protein differential expression in normal tissues for TGM1 Gene

This gene is overexpressed in Saliva (25.3) and Cervix (22.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TGM1 Gene

SOURCE GeneReport for Unigene cluster for TGM1 Gene Hs.508950

genes like me logo Genes that share expressions with TGM1: view

Expression partners for TGM1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for TGM1 Gene

Orthologs for TGM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TGM1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TGM1 35
  • 88.14 (n)
  • 91.87 (a)
TGM1 36
  • 88 (a)
(Canis familiaris)
Mammalia TGM1 35
  • 87.59 (n)
  • 91.77 (a)
TGM1 36
  • 91 (a)
(Mus musculus)
Mammalia Tgm1 35
  • 85.64 (n)
  • 90.97 (a)
Tgm1 16
Tgm1 36
  • 91 (a)
(Pan troglodytes)
Mammalia TGM1 35
  • 99.55 (n)
  • 99.63 (a)
TGM1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Tgm1 35
  • 84.54 (n)
  • 89.79 (a)
(Monodelphis domestica)
Mammalia TGM1 36
  • 82 (a)
(Anolis carolinensis)
Reptilia TGM1 36
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tgm1 35
  • 58.42 (n)
  • 58.57 (a)
(Danio rerio)
Actinopterygii Dr.11273 35
tgm1l1 35
  • 58.14 (n)
  • 54.05 (a)
tgm1 36
  • 47 (a)
TGM1 (1 of 6) 36
  • 49 (a)
TGM1 (6 of 6) 36
  • 40 (a)
tgm1l1 36
  • 48 (a)
tgm1l2 36
  • 38 (a)
tgm1l4 36
  • 47 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3007 35
fruit fly
(Drosophila melanogaster)
Insecta CG7356 37
  • 37 (a)
Tg 35
  • 50.05 (n)
  • 39.16 (a)
Tg 36
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009100 35
  • 49.9 (n)
  • 40.56 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10087 36
  • 35 (a)
Species with no ortholog for TGM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TGM1 Gene

Gene Tree for TGM1 (if available)
Gene Tree for TGM1 (if available)

Paralogs for TGM1 Gene

Paralogs for TGM1 Gene

genes like me logo Genes that share paralogs with TGM1: view

Variants for TGM1 Gene

Sequence variations from dbSNP and Humsavar for TGM1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs941504 -- 24,264,261(-) TTGTC(A/G)GCCTG upstream-variant-2KB
rs941505 -- 24,264,066(-) CAGTG(A/T)CGGGG upstream-variant-2KB
rs1950494 -- 24,252,807(-) GCGAG(C/T)TCCTG intron-variant
rs2075530 -- 24,263,965(-) GTCCA(A/G)CTGAG upstream-variant-2KB
rs2144486 -- 24,262,631(-) TCCTG(G/T)GATGG intron-variant

Relevant External Links for TGM1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TGM1 Gene

Disorders for TGM1 Gene

(1) OMIM Diseases for TGM1 Gene (190195)


  • 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:0000269 PubMed:11251583, ECO:0000269 PubMed:11511296, ECO:0000269 PubMed:19890349, ECO:0000269 PubMed:7773290, ECO:0000269 PubMed:7824952, ECO:0000269 PubMed:9326318}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(21) Novoseek inferred disease relationships for TGM1 Gene

Disease -log(P) Hits PubMed IDs
congenital ichthyosis 91.7 5
ichthyosis 89.9 16
harlequin ichthyosis 88.2 2
ichthyosiform erythroderma congenital 87.9 7
skin diseases genetic 75.1 1

Relevant External Links for TGM1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with TGM1: view

No data available for Genatlas for TGM1 Gene

Publications for TGM1 Gene

  1. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. (PMID: 19241467) Herman M.L. … Toro J.R. (Hum. Mutat. 2009) 3 4 23 48
  2. A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis. (PMID: 17024410) Boeshans K.M. … Ahvazi B. (J Mol Model 2007) 3 23 25 26
  3. Structure and organization of the human transglutaminase 1 gene. (PMID: 1348508) Kim I.-G. … Steinert P.M. (J. Biol. Chem. 1992) 3 4 23
  4. Type I keratinocyte transglutaminase: expression in human skin and psoriasis. (PMID: 1351505) Schroeder W. … Duvic M. (J. Invest. Dermatol. 1992) 3 4 23
  5. Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis. (PMID: 11511296) Yang J.M. … Steinert P.M. (J. Invest. Dermatol. 2001) 3 4 23

Products for TGM1 Gene

  • Addgene plasmids for TGM1

Sources for TGM1 Gene

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