U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TGM3 transglutaminase 3 [ Homo sapiens (human) ]

Gene ID: 7053, updated on 27-Nov-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools