TGM3 transglutaminase 3 [Homo sapiens (human)] - Gene

Summary

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

Location:: 20p13

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (2296001..2341079)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (2326141..2371231)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (2276647..2321725)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
TGM3 played an important role in OL malignant transformation
Title: Transglutaminase 3 contributes to malignant transformation of oral leukoplakia to cancer.

Submit: New GeneRIF Correction See all GeneRIFs (47)

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

G18074 (e-PCR)
- UniSTS:27660

NoName (e-PCR)
- UniSTS:489740

TGM3_1647 (e-PCR)
- UniSTS:277809

Z94548 (e-PCR)
- UniSTS:16955

D20S745 (e-PCR)
- UniSTS:38224

D20S1099 (e-PCR)
- UniSTS:20841

D20S1049 (e-PCR)
- UniSTS:20595

RH120378 (e-PCR)
- UniSTS:132520

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-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	IEP Inferred from Expression Pattern more info	PubMed
involved_in keratinocyte differentiation	TAS Traceable Author Statement more info	PubMed
involved_in peptide cross-linking	IBA Inferred from Biological aspect of Ancestor more info
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 more info	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

EC 2.3.2.13

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

NG_052959.1 RefSeqGene

Range

5035..50113

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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