Free for academic non-profit institutions. Other users need a Commercial license

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 2.3.2.13 4 61
  • 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 Acral Self-Healing Collodion Baby. Among its related pathways are Developmental Biology. 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

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

Enhancers for TGM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F024258 1.3 Ensembl ENCODE 12.3 +4.7 4679 1.6 MAZ HNF4A NR2F6 ZKSCAN1 DHRS1 TGM1 TINF2
GH14F024262 0.6 ENCODE 11 +0.6 603 2.8 ZNF687 ZNF146 RFX1 CEBPB DPF2 CTBP1 ZFHX2 GLIS1 RCOR1 EGR2 TGM1 DHRS1 RABGGTA TINF2
GH14F024224 0.7 Ensembl ENCODE 10.8 +39.4 39431 1.7 ESRRA PKNOX1 MTA2 JUN BMI1 TBX21 JUND POLR2A IKZF1 TARDBP DHRS1 NOP9 TGM1 REC8 MDP1 TM9SF1 NEDD8-MDP1
GH14F024194 0.7 ENCODE 10.3 +68.6 68556 3.5 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 NFATC4 HOMEZ KHNYN RNA5SP383 REC8 NEDD8 NEDD8-MDP1 TINF2 MDP1 MIR7703
GH14F024198 0.2 ENCODE 10.2 +65.4 65422 1.1 GATAD2A DRAP1 ZFHX2 HLF EGR2 TEAD3 TGM1 CHMP4A TSSK4 DHRS4-AS1 NFATC4 ENSG00000276698 ENSG00000278784
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TGM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TGM1 Gene

Chromosome:
14
Start:
24,249,114 bp from pter
End:
24,264,432 bp from pter
Size:
15,319 bases
Orientation:
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:
    P22735-TGM1_HUMAN
    Recommended name:
    Protein-glutamine gamma-glutamyltransferase K
    Protein Accession:
    P22735
    Secondary Accessions:
    • B4DWR7
    • Q197M4

    Protein attributes for TGM1 Gene

    Size:
    817 amino acids
    Molecular mass:
    89787 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry 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

Suggested Antigen Peptide Sequences for TGM1 Gene

Graphical View of Domain Structure for InterPro Entry

P22735

UniProtKB/Swiss-Prot:

TGM1_HUMAN :
  • Belongs to the transglutaminase superfamily. Transglutaminase family.
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. 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 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 --
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TGM1

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

COMPARTMENTS
Jensen Localization Image for TGM1 Gene COMPARTMENTS Subcellular localization image for TGM1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 4
cytosol 3
mitochondrion 2
cytoskeleton 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TGM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS 8824274
GO:0016020 membrane 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 & Interactions for TGM1 Gene

SuperPathways for TGM1 Gene

SuperPathway Contained pathways
1 Developmental Biology
genes like me logo Genes that share pathways with TGM1: view

Pathways by source for TGM1 Gene

1 Reactome pathway 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 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 SIGNOR curated interactions for TGM1 Gene

Drugs & Compounds for TGM1 Gene

(15) 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 Nutra 0
Cystamine dihydrochloride Pharma 0
LDN-27219 Pharma Tgases inhibitor, Transglutaminase 2 (TG2) inhibitor; reversible 0

(11) Additional Compounds for TGM1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7

(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

Transcripts for TGM1 Gene

Unigene Clusters for TGM1 Gene

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
TGM1
ECgene alternative splicing isoforms for
TGM1

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 (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:

TGM1

SOURCE GeneReport for Unigene cluster for TGM1 Gene:

Hs.508950
genes like me logo Genes that share expression patterns with TGM1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia TGM1 34 35
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia TGM1 34 35
  • 88.14 (n)
dog
(Canis familiaris)
Mammalia TGM1 34 35
  • 87.59 (n)
mouse
(Mus musculus)
Mammalia Tgm1 34 16 35
  • 85.64 (n)
rat
(Rattus norvegicus)
Mammalia Tgm1 34
  • 84.54 (n)
oppossum
(Monodelphis domestica)
Mammalia TGM1 35
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGM1 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgm1 34
  • 58.42 (n)
zebrafish
(Danio rerio)
Actinopterygii tgm1l1 34 35
  • 58.14 (n)
TGM1 (1 of 6) 35
  • 49 (a)
OneToMany
tgm1 35
  • 47 (a)
OneToMany
tgm1l4 35
  • 47 (a)
OneToMany
TGM1 (6 of 6) 35
  • 40 (a)
OneToMany
tgm1l2 35
  • 38 (a)
OneToMany
Dr.11273 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3007 34
fruit fly
(Drosophila melanogaster)
Insecta Tg 34 35
  • 50.05 (n)
CG7356 36
  • 37 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009100 34
  • 49.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10087 35
  • 35 (a)
OneToMany
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

ENSEMBL:
Gene Tree for TGM1 (if available)
TreeFam:
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
rs121918716 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300], Pathogenic 24,261,779(-) TAGTG(C/T)GCCGC reference, missense
rs121918717 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300], Pathogenic 24,259,720(-) CTCCC(A/G)GGTCA reference, missense
rs121918718 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300], Pathogenic 24,261,778(-) AGTGC(A/G)CCGCG reference, missense
rs121918719 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300], Pathogenic 24,261,775(-) GCGCC(A/G)CGGGC reference, missense
rs121918720 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300], Pathogenic 24,259,099(-) GCTGG(A/C/G)TCTTT reference, missense

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)

Relevant External Links for TGM1 Gene

Human Gene Mutation Database (HGMD)
TGM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGM1

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

Disorders for TGM1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ichthyosis, congenital, autosomal recessive 1
  • autosomal recessive congenital ichthyosis 1
acral self-healing collodion baby
  • acral shcb
autosomal recessive congenital ichthyosis
  • arci
congenital ichthyosiform erythroderma
  • alligator skin
ichthyosis, congenital, autosomal recessive 2
  • autosomal recessive congenital ichthyosis 2
- elite association - COSMIC cancer census association via MalaCards
Search TGM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TGM1_HUMAN
  • 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.

Relevant External Links for TGM1

Genetic Association Database (GAD)
TGM1
Human Genome Epidemiology (HuGE) Navigator
TGM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TGM1
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 22 46 64
  2. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. (PMID: 19890349) Vahlquist A. … Fischer J. (J. Invest. Dermatol. 2010) 3 4 22 64
  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 J.R. (J. Med. Genet. 2009) 3 22 46 64
  4. 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 22 25 64
  5. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. (PMID: 11251583) Akiyama M. … Shimizu H. (Br. J. Dermatol. 2001) 3 4 22 64

Products for TGM1 Gene

Sources for TGM1 Gene

Content
Loading form....