Tgm3 transglutaminase 3, E polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tgm3provided by MGI
Official Full Name: transglutaminase 3, E polypeptideprovided by MGI
Primary source: MGI:MGI:98732
See related: Ensembl:ENSMUSG00000027401 AllianceGenome:MGI:98732
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: we; TGE; TG E; TG(E); TGase E; TGase-3
Summary: Predicted to enable calcium ion binding activity; protein-glutamine gamma-glutamyltransferase activity; and structural molecule activity. Predicted to be involved in cell envelope organization and peptide cross-linking. Predicted to act upstream of or within keratinization. Located in collagen-containing extracellular matrix. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; musculoskeletal system; and nervous system. Orthologous to human TGM3 (transglutaminase 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in colon adult (RPKM 142.1), lung adult (RPKM 18.2) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 2 F1; 2 63.19 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (129829700..129890814)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (129987794..130050399)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transglutaminase 3 Attenuates Skin Inflammation in Psoriasis by Inhibiting NF-kappaB Activation through Phosphorylated STAT3-TET3 Signaling.
Title: Transglutaminase 3 Attenuates Skin Inflammation in Psoriasis by Inhibiting NF-κB Activation through Phosphorylated STAT3-TET3 Signaling.
study concludes that the classic wellhaarig mutations result from defects in Tgm3
Title: The mouse wellhaarig (we) mutations result from defects in epidermal-type transglutaminase 3 (Tgm3).
Fluctuations of BMP2 signaling pathway during hair cycles in skin with mutant genes we, wal and Fgf5(go).
Title: Fluctuations of BMP signaling pathway during hair cycles in skin of mice with mutant genes we, wal and Fgf5(go).
The mutant gene we is probably responsible for a disrupted induction signal from the dermal papilla towards ectodermal cells of a hair follicle.
Title: [Effects of the mutant gene wellhaarig in chimeric mice].
Interaction of mutant genes Fgf5(go-Y), we, and wal changes the duration of hair growth cycles in mice
Title: [Interaction of mutant genes Fgf5(go-Y), we, and wal changes the duration of hair growth cycles in mice].
The first signs of alopecia in mice of the +/Fgf5(go-Y) we/wewal/wal genotype appear only three days later than in double +/+ we/wewal/wal homozygotes.
Title: [The angora gene weakens the effect of interaction of the mutant genes wellhaarig and waved alopecia in mice].
The clinically uninvolved skin in TGM3 knockout mice showed impaired barrier function and higher susceptibility to FITC sensitization indicating that TGM3 has a significant contribution to the functionally intact cutaneous barrier.
Title: Reduced inflammatory threshold indicates skin barrier defect in transglutaminase 3 knockout mice.
Loss of Tgm3 is associated with defective hair development.
Title: Epidermal transglutaminase (TGase 3) is required for proper hair development, but not the formation of the epidermal barrier.
new information on the specific distribution of TGase 3
Title: Identification of a preferred substrate peptide for transglutaminase 3 and detection of in situ activity in skin and hair follicles.
N-terminus sequence of the proteolyzed fragment was analyzed with specific antibodies.
Title: Immunological detection of proteolytically activated epidermal-type transglutaminase (TGase 3) using cleavage-site-specific antibody.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Associated conditions

Description	Tests
wellhaarig GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (4) 1 citation
Gene trapped (1)
Targeted (4) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L10385 (e-PCR)
- UniSTS:159033

AI893889 (e-PCR)
- UniSTS:165207

Tgm3 (e-PCR), detects polymorphism
- UniSTS:497302

L10385 (e-PCR)
- UniSTS:124872

Tgm3 (e-PCR), detects polymorphism
- UniSTS:233963

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acyltransferase activity	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables catalytic activity	ISO Inferred from Sequence Orthology more info
enables catalytic activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein-glutamine gamma-glutamyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-glutamine gamma-glutamyltransferase activity	ISO Inferred from Sequence Orthology more info
enables protein-glutamine gamma-glutamyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables structural molecule activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in hair cell differentiation	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within keratinization	IEA Inferred from Electronic Annotation more info
involved_in peptide cross-linking	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptide cross-linking	ISO Inferred from Sequence Orthology more info
involved_in peptide cross-linking	TAS Traceable Author Statement more info	PubMed
involved_in skin development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cornified envelope	TAS Traceable Author Statement more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in extrinsic component of cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein-glutamine gamma-glutamyltransferase E

Names: E polypeptide; protein-glutamine-gamma-glutamyltransferase; transglutaminase E; transglutaminase-3

NP_001408079.1

EC 2.3.2.13

NP_033400.2

EC 2.3.2.13

XP_006499214.1

EC 2.3.2.13

XP_011237739.1

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.

mRNA and Protein(s)

NM_001421150.1 → NP_001408079.1 protein-glutamine gamma-glutamyltransferase E isoform 2

Status: VALIDATED

Source sequence(s)

AL808127
NM_009374.4 → NP_033400.2 protein-glutamine gamma-glutamyltransferase E isoform 1 precursor

See identical proteins and their annotated locations for NP_033400.2

Status: VALIDATED

Source sequence(s)

AL808127

Consensus CDS

CCDS38240.1

UniProtKB/Swiss-Prot

A1L343, A2ANC3, Q08189

Related

ENSMUSP00000105928.3, ENSMUST00000110299.3

Conserved Domains (3) summary

smart00460
Location:265 → 357

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:5 → 117

Transglut_N; Transglutaminase family

pfam00927
Location:595 → 691

Transglut_C; Transglutaminase family, C-terminal ig like domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

129829700..129890814

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011239437.3 → XP_011237739.1 protein-glutamine gamma-glutamyltransferase E isoform X2

Conserved Domains (3) summary

smart00460
Location:271 → 363

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:10 → 124

Transglut_N; Transglutaminase family

pfam00927
Location:601 → 697

Transglut_C; Transglutaminase family, C-terminal ig like domain
XM_006499151.3 → XP_006499214.1 protein-glutamine gamma-glutamyltransferase E isoform X1

Conserved Domains (3) summary

smart00460
Location:276 → 368

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:15 → 129

Transglut_N; Transglutaminase family

pfam00927
Location:606 → 702

Transglut_C; Transglutaminase family, C-terminal ig like domain