Tgm1 transglutaminase 1, K polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tgm1provided by MGI
Official Full Name: transglutaminase 1, K polypeptideprovided by MGI
Primary source: MGI:MGI:98730
See related: Ensembl:ENSMUSG00000022218 AllianceGenome:MGI:98730
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: Tgase1; 2310004J08Rik
Summary: Predicted to enable identical protein binding activity and protein-glutamine gamma-glutamyltransferase activity. Acts upstream of or within animal organ morphogenesis. Located in adherens junction. Is expressed in epidermis; epidermis stratum granulosum; epidermis stratum spinosum; external naris epithelium; and stomach. Used to study autosomal recessive congenital ichthyosis 1. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 1. Orthologous to human TGM1 (transglutaminase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in placenta adult (RPKM 22.8), stomach adult (RPKM 19.5) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 C3; 14 28.19 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (55937466..55951378, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (55700009..55713921, complement)

Chromosome 14 - NC_000080.7 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: 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?

Proteomics analysis of the brain from a Gaucher disease mouse identifies pathological pathways including a possible role for transglutaminase 1.
Title: Proteomics analysis of the brain from a Gaucher disease mouse identifies pathological pathways including a possible role for transglutaminase 1.
Assessment of expression and specific activities of transglutaminases TG1, TG2, and FXIII-A during osteoclastogenesis.
Title: Assessment of expression and specific activities of transglutaminases TG1, TG2, and FXIII-A during osteoclastogenesis.
characterization of transglutaminase-crosslinked substrates in kidney fibrosis
Title: Isozyme-specific comprehensive characterization of transglutaminase-crosslinked substrates in kidney fibrosis.
TG activity regulates differentiation, migration and fusion of osteoclasts via affecting actin dynamics and that this may involve contribution from all three TG enzymes.
Title: Transglutaminase activity regulates differentiation, migration and fusion of osteoclasts via affecting actin dynamics.
Endothelin-2/vasoactive intestinal contractor via ROCK regulates transglutaminase 1 on differentiation of mouse keratinocytes.
Title: Endothelin-2/vasoactive intestinal contractor via ROCK regulates transglutaminase 1 on differentiation of mouse keratinocytes.
results suggest ADAM17/EGFR-driven PLCgamma1 and PKC pathways as important promoters of TG1 expression during terminal keratinocyte differentiation.
Title: ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phospholipase C γ1 and protein kinase C pathways.
We also reveal that TGM1 modulates lung epithelial junction protein expression, suggesting a potentially protective role for hypoxia-induced TGM1 in pulmonary disease.
Title: HIF-1-Dependent TGM1 Expression is Associated with Maintenance of Airway Epithelial Junction Proteins.
Characterization of TGM2 and TGM1-TGM2 double knock-out mouse epidermis showed that unlike TGM2, TGM1 is indispensable for skin formation.
Title: Characterization of TG2 and TG1-TG2 double knock-out mouse epidermis.
that the up-regulation of molecular signatures for antimicrobial and innate defense responses is characteristic of skin with a transglutaminase 1 deficiency.
Title: Activation of Molecular Signatures for Antimicrobial and Innate Defense Responses in Skin with Transglutaminase 1 Deficiency.
Before the appearance of acute renal failure, which is apparent by morphological damage in the kidney and increases in blood creatinine levels, both the expression level and activity of TG1 rapidly increased mainly at the proximal tubule.
Title: Early response as shown by enhancement of transglutaminase 1 expression after cisplatin-induced acute kidney injury.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acyltransferase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
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 transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within keratinization	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	ISO Inferred from Sequence Orthology 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 positive regulation of cell cycle	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of keratinocyte proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein-glutamine gamma-glutamyltransferase K

Names: K polypeptide; TG(K); TGK; TGase K; TGase-1; epidermal TGase; protein-glutamine-gamma-glutamyltransferase; transglutaminase K; transglutaminase type 1; transglutaminase-1

NP_001155186.1

EC 2.3.2.13

NP_001155187.1

EC 2.3.2.13

NP_064368.3

EC 2.3.2.13

XP_006518871.1

EC 2.3.2.13

XP_006518872.1

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_001161714.1 → NP_001155186.1 protein-glutamine gamma-glutamyltransferase K

See identical proteins and their annotated locations for NP_001155186.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.

Source sequence(s)

AF186373, BX639142, BY779293

Consensus CDS

CCDS36932.1

UniProtKB/Swiss-Prot

Q8R0T9, Q9JLF6

UniProtKB/TrEMBL

A0A0R4J293

Related

ENSMUSP00000137642.2, ENSMUST00000178034.9

Conserved Domains (3) summary

smart00460
Location:370 → 461

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:109 → 226

Transglut_N; Transglutaminase family

pfam00927
Location:690 → 787

Transglut_C; Transglutaminase family, C-terminal ig like domain
NM_001161715.1 → NP_001155187.1 protein-glutamine gamma-glutamyltransferase K

See identical proteins and their annotated locations for NP_001155187.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.

Source sequence(s)

AF186373, BX639142, BY779293

Consensus CDS

CCDS36932.1

UniProtKB/Swiss-Prot

Q8R0T9, Q9JLF6

UniProtKB/TrEMBL

A0A0R4J293

Related

ENSMUSP00000128090.2, ENSMUST00000168729.8

Conserved Domains (3) summary

smart00460
Location:370 → 461

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:109 → 226

Transglut_N; Transglutaminase family

pfam00927
Location:690 → 787

Transglut_C; Transglutaminase family, C-terminal ig like domain
NM_019984.3 → NP_064368.3 protein-glutamine gamma-glutamyltransferase K

See identical proteins and their annotated locations for NP_064368.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.

Source sequence(s)

AF186373, BX639142, CT025679

Consensus CDS

CCDS36932.1

UniProtKB/Swiss-Prot

Q8R0T9, Q9JLF6

UniProtKB/TrEMBL

A0A0R4J293

Related

ENSMUSP00000002389.8, ENSMUST00000002389.9

Conserved Domains (3) summary

smart00460
Location:370 → 461

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:109 → 226

Transglut_N; Transglutaminase family

pfam00927
Location:690 → 787

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_000080.7 Reference GRCm39 C57BL/6J

Range

55937466..55951378 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006518809.5 → XP_006518872.1 protein-glutamine gamma-glutamyltransferase K isoform X1

See identical proteins and their annotated locations for XP_006518872.1

UniProtKB/Swiss-Prot

Q8R0T9, Q9JLF6

UniProtKB/TrEMBL

A0A0R4J293

Conserved Domains (3) summary

smart00460
Location:370 → 461

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:109 → 226

Transglut_N; Transglutaminase family

pfam00927
Location:690 → 787

Transglut_C; Transglutaminase family, C-terminal ig like domain
XM_006518808.3 → XP_006518871.1 protein-glutamine gamma-glutamyltransferase K isoform X1

See identical proteins and their annotated locations for XP_006518871.1

UniProtKB/Swiss-Prot

Q8R0T9, Q9JLF6

UniProtKB/TrEMBL

A0A0R4J293

Conserved Domains (3) summary

smart00460
Location:370 → 461

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:109 → 226

Transglut_N; Transglutaminase family

pfam00927
Location:690 → 787

Transglut_C; Transglutaminase family, C-terminal ig like domain