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    TGM3 transglutaminase 3 [ Homo sapiens (human) ]

    Gene ID: 7053, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TGM3provided by HGNC
    Official Full Name
    transglutaminase 3provided by HGNC
    Primary source
    HGNC:HGNC:11779
    See related
    Ensembl:ENSG00000125780 MIM:600238; AllianceGenome:HGNC:11779
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TGE; UHS2
    Summary
    Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward esophagus (RPKM 758.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See TGM3 in Genome Data Viewer
    Location:
    20p13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (2296001..2341079)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (2326141..2371231)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (2276647..2321725)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2187665-2188165 Neighboring gene long intergenic non-protein coding RNA 3086 Neighboring gene uncharacterized LOC124904860 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2245384-2245939 Neighboring gene uncharacterized LOC105372503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2277351-2277884 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:2277885-2278417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17464 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:2310613-2311195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2320331-2320831 Neighboring gene transglutaminase 6 Neighboring gene small nucleolar RNA, C/D box 119 Neighboring gene small nuclear ribonucleoprotein polypeptides B and B1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The proximal promoter of the human transglutaminase 3 gene. Stratified squamous epithelial-specific expression in cultured cells is mediated by binding of Sp1 and ets transcription factors to a proximal promoter element. Lee JH, et al. J Biol Chem, 1996 Feb 23. PMID 8626812
    2. Differential expression of multiple transglutaminases in human brain. Increased expression and cross-linking by transglutaminases 1 and 2 in Alzheimer's disease. Kim SY, et al. J Biol Chem, 1999 Oct 22. PMID 10521460
    3. Characterization of Ets-binding sequence of human transglutaminase 3 gene promoter. Kim CD, et al. Exp Dermatol, 2004 Sep. PMID 15335352
    4. The human papillomavirus type 11 E1--E4 protein is a transglutaminase 3 substrate and induces abnormalities of the cornified cell envelope. Brown DR, et al. Virology, 2006 Feb 5. PMID 16257432
    5. Circulating Transglutaminase 3-Immunoglobulin A Immune Complexes in Dermatitis Herpetiformis. Görög A, et al. J Invest Dermatol, 2016 Aug. PMID 27106676

    See all (143) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TGM1/3-mediated transamidation of Exo70 promotes tumor metastasis upon LKB1 inactivation.
      Title: TGM1/3-mediated transamidation of Exo70 promotes tumor metastasis upon LKB1 inactivation.
    2. Transglutaminase 3 suppresses proliferation and cisplatin resistance of cervical cancer cells by inactivation of the PI3K/AKT pathway.
      Title: Transglutaminase 3 suppresses proliferation and cisplatin resistance of cervical cancer cells by inactivation of the PI3K/AKT pathway.
    3. Separate Gut Plasma Cell Populations Produce Auto-Antibodies against Transglutaminase 2 and Transglutaminase 3 in Dermatitis Herpetiformis.
      Title: Separate Gut Plasma Cell Populations Produce Auto-Antibodies against Transglutaminase 2 and Transglutaminase 3 in Dermatitis Herpetiformis.
    4. Circular RNA ciRS-7 promotes laryngeal squamous cell carcinoma development by inducing TGM3 hypermethylation via miR-432-5p/DNMT3B axis.
      Title: Circular RNA ciRS-7 promotes laryngeal squamous cell carcinoma development by inducing TGM3 hypermethylation via miR-432-5p/DNMT3B axis.
    5. Transglutaminase 3 expression in hepatocellular carcinoma patients: Correlation with tumor features and survival profile.
      Title: Transglutaminase 3 expression in hepatocellular carcinoma patients: Correlation with tumor features and survival profile.
    6. T Cell Response Toward Tissue-and Epidermal-Transglutaminases in Coeliac Disease Patients Developing Dermatitis Herpetiformis.
      Title: T Cell Response Toward Tissue-and Epidermal-Transglutaminases in Coeliac Disease Patients Developing Dermatitis Herpetiformis.
    7. TGM3 promotes epithelial-mesenchymal transition and hepatocellular carcinogenesis and predicts poor prognosis for patients after curative resection.
      Title: TGM3 promotes epithelial-mesenchymal transition and hepatocellular carcinogenesis and predicts poor prognosis for patients after curative resection.
    8. Downregulation of miR106b3p increases sensitivity to cisplatin in esophageal cancer cells by targeting TGM3.
      Title: Downregulation of miR‑106b‑3p increases sensitivity to cisplatin in esophageal cancer cells by targeting TGM3.
    9. TGM3 functions as a tumor suppressor by repressing epithelialtomesenchymal transition and the PI3K/AKT signaling pathway in colorectal cancer.
      Title: TGM3 functions as a tumor suppressor by repressing epithelial‑to‑mesenchymal transition and the PI3K/AKT signaling pathway in colorectal cancer.
    10. Transglutaminase 3 Promotes Skin Inflammation in Atopic Dermatitis by Activating Monocyte-Derived Dendritic Cells via DC-SIGN.
      Title: Transglutaminase 3 Promotes Skin Inflammation in Atopic Dermatitis by Activating Monocyte-Derived Dendritic Cells via DC-SIGN.
    Submit: New GeneRIF Correction See all GeneRIFs (48)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Uncombable hair syndrome 2
    MedGen: C4310649 OMIM: 617251 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Cyclosporin (CsA) treatment prevents gp120-dependent induction of apoptosis by blocking the activation of Ca(2+)-dependent effector elements such as transglutaminase (TG) proteins PubMed
    Envelope transmembrane glycoprotein gp41 env The HIV-1 transmembrane glycoprotein gp41 is an amino acceptor and donor substrate for transglutaminase in vitro; soluble CD4 can block the transglutaminase-catalyzed incorporation of the polyamine spermidine into HIV-1 gp41 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126249, MGC126250

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables catalytic activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-glutamine gamma-glutamyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-glutamine gamma-glutamyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables structural molecule activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in hair follicle morphogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in keratinization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in keratinocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in keratinocyte differentiation IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in keratinocyte differentiation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in peptide cross-linking IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein modification process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extrinsic component of cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein-glutamine gamma-glutamyltransferase E
    Names
    E polypeptide, protein-glutamine-gamma-glutamyltransferase
    TG(E)
    TGase E
    TGase-3
    transglutaminase E
    NP_003236.3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052959.1 RefSeqGene

      Range
      5035..50113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003245.4 → NP_003236.3  protein-glutamine gamma-glutamyltransferase E

      See identical proteins and their annotated locations for NP_003236.3

      Status: REVIEWED

      Source sequence(s)
      AI216028, BC109075, BC109076, DC373633
      Consensus CDS
      CCDS33435.1
      UniProtKB/Swiss-Prot
      A8K5N6, B2RCR6, D3DVX1, O95933, Q08188, Q32ML9, Q32MM0
      UniProtKB/TrEMBL
      A0A494C0J7
      Related
      ENSP00000370867.5, ENST00000381458.6
      Conserved Domains (3) summary
      smart00460
      Location:267 → 357
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:3 → 117
      Transglut_N; Transglutaminase family
      pfam00927
      Location:595 → 692
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      2296001..2341079
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      2326141..2371231
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q08188.4 GenPept UniProtKB/Swiss-Prot:Q08188

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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