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Aliases for TGM1 Gene

Aliases for TGM1 Gene

  • Transglutaminase 1 2 3 5
  • K Polypeptide Epidermal Type I, Protein-Glutamine-Gamma-Glutamyltransferase 2 3
  • Transglutaminase K 3 4
  • Epidermal TGase 3 4
  • EC 4 56
  • TGase K 3 4
  • TGase-1 3 4
  • TG(K) 3 4
  • KTG 3 4
  • TGK 3 4
  • Transglutaminase 1 (K Polypeptide Epidermal Type I, Protein-Glutamine-Gamma-Glutamyltransferase) 2
  • Protein-Glutamine Gamma-Glutamyltransferase K 3
  • Transglutaminase, Keratinocyte 3
  • Transglutaminase 1 Isoform 3
  • Transglutaminase-1 4
  • TGase 3
  • ARCI1 3
  • ICR2 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 Congenital Ichthyosiform Erythroderma. 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.

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. Involved in cell proliferation (PubMed:26220141).

Gene Wiki entry for TGM1 Gene

Additional gene information for TGM1 Gene

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

Genomics for TGM1 Gene

GeneHancer (GH) Regulatory Elements for TGM1 Gene

Promoters and enhancers for TGM1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I024262 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 561 +0.6 603 2.8 SMARCE1 ZNF687 RFX1 CEBPB DPF2 ZNF217 ZFHX2 CTBP1 ATF4 GLIS1 TGM1 DHRS1 RABGGTA TINF2
GH14I024240 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 +22.2 22192 3.8 PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B TINF2 KHNYN RNA5SP383 LOC102724814 NGDN NYNRIN RNF31 SDR39U1 ENSG00000259321 TGM1
GH14I024364 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.2 -103.6 -103574 6.1 HDGF PKNOX1 MLX ARID4B NEUROD1 SIN3A DMAP1 YBX1 ZNF2 ZBTB7B NFATC4 ADCY4 SDR39U1 RIPK3 NYNRIN JPH4 CBLN3 KHNYN TGM1 LTB4R
GH14I024194 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.3 +68.6 68555 3.5 HDGF PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 TM9SF1 PIR45873 RNF31 TINF2 MDP1 SLC22A17 PSME2 KHNYN RNA5SP383 JPH4
GH14I024230 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.8 +31.5 31458 4.2 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 NEDD8-MDP1 NEDD8 GMPR2 TM9SF1 RNA5SP383 KHNYN LOC102724814 TINF2 RNF31 MDP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TGM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TGM1 gene promoter:

Genomic Locations for TGM1 Gene

Genomic Locations for TGM1 Gene
15,319 bases
Minus strand

Genomic View for TGM1 Gene

Genes around TGM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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

Selected DME Specific Peptides for TGM1 Gene


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

Domains & Families for TGM1 Gene

Gene Families for TGM1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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:
A protein-L-glutamine + a protein-L-lysine = a protein with an N(6)-(gamma-glutamyl)-L-lysine cross-link + 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. Involved in cell proliferation (PubMed:26220141).

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 TAS,IEA --
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 --
genes like me logo Genes that share ontologies with TGM1: view
genes like me logo Genes that share phenotypes with TGM1: view

Human Phenotype Ontology for TGM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGM1 Gene

MGI Knock Outs for TGM1:

Animal Model Products

miRNA for TGM1 Gene

miRTarBase miRNAs that target TGM1

Clone Products

  • Addgene plasmids for TGM1
  • R&D Systems cDNA Clones for TGM1 (Transglutaminase 1/TGM1)

No data available for Phenotypes From GWAS Catalog , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TGM1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 4
mitochondrion 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TGM1 Gene

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 --
GO:0031224 intrinsic component of membrane IDA 8824274
genes like me logo Genes that share ontologies with TGM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TGM1 Gene

Pathways & Interactions for TGM1 Gene

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

Pathways by source for TGM1 Gene

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:0010838 positive regulation of keratinocyte proliferation IMP 26220141
GO:0018149 peptide cross-linking IDA,IEA 9722562
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 SIGNOR curated interactions for TGM1 Gene

Drugs & Compounds for TGM1 Gene

(16) Drugs for TGM1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
calcium Approved Nutra 0
Ammonia Approved Pharma 0
Cystamine dihydrochloride Pharma 0
LDN-27219 Pharma Tgases inhibitor 0

(10) Additional Compounds for TGM1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for TGM1 Gene

Compound Action Cas Number
Cystamine dihydrochloride 56-17-7
LDN-27219 Tgases inhibitor 312946-37-5
genes like me logo Genes that share compounds with TGM1: view

Drug Products

Transcripts for TGM1 Gene

Unigene Clusters for TGM1 Gene

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

Clone Products

  • Addgene plasmids for TGM1
  • R&D Systems cDNA Clones for TGM1 (Transglutaminase 1/TGM1)

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x29.6), Minor Salivary Gland (x5.7), and Vagina (x4.4).

Protein differential expression in normal tissues from HIPED for TGM1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TGM1 Gene

Protein tissue co-expression partners for TGM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TGM1 Gene:


SOURCE GeneReport for Unigene cluster for TGM1 Gene:


Evidence on tissue expression from TISSUES for TGM1 Gene

  • Skin(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TGM1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • outer ear
  • penis
  • vulva
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood
  • blood vessel
  • hair
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with TGM1: view

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
(Pan troglodytes)
Mammalia TGM1 33 34
  • 99.55 (n)
(Bos Taurus)
Mammalia TGM1 33 34
  • 88.14 (n)
(Canis familiaris)
Mammalia TGM1 33 34
  • 87.59 (n)
(Mus musculus)
Mammalia Tgm1 33 16 34
  • 85.64 (n)
(Rattus norvegicus)
Mammalia Tgm1 33
  • 84.54 (n)
(Monodelphis domestica)
Mammalia TGM1 34
  • 82 (a)
(Anolis carolinensis)
Reptilia TGM1 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tgm1 33
  • 58.42 (n)
(Danio rerio)
Actinopterygii tgm1l1 33 34
  • 58.14 (n)
TGM1 (1 of 6) 34
  • 49 (a)
tgm1 34
  • 47 (a)
tgm1l4 34
  • 47 (a)
TGM1 (6 of 6) 34
  • 40 (a)
tgm1l2 34
  • 38 (a)
Dr.11273 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3007 33
fruit fly
(Drosophila melanogaster)
Insecta Tg 33 34
  • 50.05 (n)
CG7356 35
  • 37 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009100 33
  • 49.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10087 34
  • 35 (a)
Species where no ortholog for TGM1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1044429462 congenital, autosomal recessive 1 (ARCI1) [MIM:242300] 24,255,378(-) T/C coding_sequence_variant, missense_variant
rs1126432 benign, likely-benign, not specified, Congenital ichthyosiform erythroderma 24,259,088(-) G/A/T coding_sequence_variant, synonymous_variant
rs121918716 pathogenic, Autosomal recessive congenital ichthyosis 1, Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] 24,261,779(-) G/A coding_sequence_variant, missense_variant
rs121918717 pathogenic, Autosomal recessive congenital ichthyosis 1, not provided, Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] 24,259,720(-) C/T coding_sequence_variant, missense_variant
rs121918718 pathogenic, Autosomal recessive congenital ichthyosis 1, Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] 24,261,778(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for TGM1 Gene

Variant ID Type Subtype PubMed ID
nsv952818 CNV deletion 24416366

Variation tolerance for TGM1 Gene

Residual Variation Intolerance Score: 88.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.57; 56.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TGM1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGM1 Gene

Disorders for TGM1 Gene

MalaCards: The human disease database

(28) MalaCards diseases for TGM1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TGM1 in MalaCards View complete list of genes associated with diseases


  • 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:26220141, 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.

Additional Disease Information for TGM1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 ML … Toro JR (Human mutation 2009) 3 4 22 44 58
  2. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. (PMID: 19890349) Vahlquist A … Fischer J (The Journal of investigative dermatology 2010) 3 4 22 58
  3. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. (PMID: 18948357) Farasat S … Toro JR (Journal of medical genetics 2009) 3 22 44 58
  4. A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis. (PMID: 17024410) Boeshans KM … Ahvazi B (Journal of molecular modeling 2007) 3 22 25 58
  5. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. (PMID: 11251583) Akiyama M … Shimizu H (The British journal of dermatology 2001) 3 4 22 58

Products for TGM1 Gene

  • Addgene plasmids for TGM1

Sources for TGM1 Gene

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