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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 2.3.2.13 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 Symbols for TGM1 Gene

  • ICR2

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

Genomic Location for TGM1 Gene

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

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

Regulatory Elements 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; Note=Binds 1 Ca(2+) ion per subunit.;
    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

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

Domains for TGM1 Gene

Gene Families for TGM1 Gene

HGNC:
  • TGM :Transglutaminases

Suggested Antigen Peptide Sequences for TGM1 Gene

Graphical View of Domain Structure for InterPro Entry

P22735

UniProtKB/Swiss-Prot:

TGM1_HUMAN
Family:
  • Belongs to the transglutaminase superfamily. Transglutaminase family.:
    • P22735
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:

miRNA for TGM1 Gene

miRTarBase miRNAs that target TGM1

No data available for Transcription Factor Targeting 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
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

Compounds for TGM1 Gene

(3) HMDB Compounds for TGM1 Gene

Compound Synonyms Cas Number PubMed IDs
Ammonia
  • NH3
7664-41-7
Calcium
  • Ca
7440-70-2
L-Glutamine
  • (2S)-2,5-diamino-5-oxopentanoic acid
56-85-9

(1) Drugbank Compounds for TGM1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Glutamine
  • (S)-2,5-diamino-5-oxopentanoic acid
56-85-9 enzyme substrate

(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:

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 (29.6), Minor Salivary Gland (5.7), and Vagina (4.4).

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

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

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 MAF
rs941504 -- 24,264,261(-) TTGTC(A/G)GCCTG upstream-variant-2KB
rs941505 -- 24,264,066(-) CAGTG(A/T)CGGGG upstream-variant-2KB
rs1126432 -- 24,259,088(-) GCTGG(A/C)GTGAC synonymous-codon, reference
rs1950493 -- 24,252,983(-) TGTAG(G/T)GAGGG intron-variant
rs1950494 -- 24,252,807(-) GCGAG(C/T)TCCTG intron-variant

Relevant External Links for TGM1 Gene

HapMap Linkage Disequilibrium report
TGM1
Human Gene Mutation Database (HGMD)
TGM1

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)

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: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

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

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. 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 23 48
  3. Genomic structure of keratinocyte transglutaminase. Recruitment of new exon for modified function. (PMID: 1346394) Phillips M.A. … Rice R.H. (J. Biol. Chem. 1992) 3 4 23
  4. Structure and organization of the human transglutaminase 1 gene. (PMID: 1348508) Kim I.-G. … Steinert P.M. (J. Biol. Chem. 1992) 3 4 23
  5. Type I keratinocyte transglutaminase: expression in human skin and psoriasis. (PMID: 1351505) Schroeder W. … Duvic M. (J. Invest. Dermatol. 1992) 3 4 23

Products for TGM1 Gene

  • Addgene plasmids for TGM1

Sources for TGM1 Gene

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