TGM1 transglutaminase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TGM1provided by HGNC
Official Full Name: transglutaminase 1provided by HGNC
Primary source: HGNC:HGNC:11777
See related: Ensembl:ENSG00000092295 MIM:190195; AllianceGenome:HGNC:11777
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: LI; KTG; LI1; TGK; ICR2; ARCI1; TGASE
Summary: The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward esophagus (RPKM 291.1) See more
Orthologs: mouse all
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Genomic context

Location:: 14q12

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (24249114..24263177, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (18447487..18461522, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (24718320..24732383, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

A pan-cancer analysis of the oncogenic and immunological roles of transglutaminase 1 (TGM1) in human cancer.
Title: A pan-cancer analysis of the oncogenic and immunological roles of transglutaminase 1 (TGM1) in human cancer.
THBS1 promotes angiogenesis and accelerates ESCC malignant progression by the HIF-1/VEGF signaling pathway.
Title: THBS1 promotes angiogenesis and accelerates ESCC malignant progression by the HIF-1/VEGF signaling pathway.
Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.
Title: Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.
Cornification of keratinocytes is associated with differential changes in the catalytic activity and the immunoreactivity of transglutaminase-1.
Title: Cornification of keratinocytes is associated with differential changes in the catalytic activity and the immunoreactivity of transglutaminase-1.
Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.
Title: Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.
Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.
Title: Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.
Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.
Title: Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.
Deep Association between Transglutaminase 1 and Tissue Eosinophil Infiltration Leading to Nasal Polyp Formation and/or Maintenance with Fibrin Polymerization in Chronic Rhinosinusitis with Nasal Polyps.
Title: Deep Association between Transglutaminase 1 and Tissue Eosinophil Infiltration Leading to Nasal Polyp Formation and/or Maintenance with Fibrin Polymerization in Chronic Rhinosinusitis with Nasal Polyps.
A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen.
Title: A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen.
Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein.
Title: Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein.

Submit: New GeneRIF Correction See all GeneRIFs (84)

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
Autosomal recessive congenital ichthyosis 1 MedGen: C4551630 OMIM: 242300 GeneReviews: Autosomal Recessive Congenital Ichthyosis	Compare labs

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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S1225 (e-PCR)
- UniSTS:31136

GDB:190625 (e-PCR)
- UniSTS:155623

humtgasi (e-PCR)
- UniSTS:2544

TGM1 (e-PCR)
- UniSTS:264947

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
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

Process	Evidence Code	Pubs
involved_in cell envelope organization	TAS Traceable Author Statement more info	PubMed
involved_in keratinization	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	IDA Inferred from Direct Assay 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 positive regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein modification process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cornified envelope	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein-glutamine gamma-glutamyltransferase K

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

NP_000350.1

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.

Genomic

NG_007150.2 RefSeqGene

Range

4990..19053

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000359.3 → NP_000350.1 protein-glutamine gamma-glutamyltransferase K

See identical proteins and their annotated locations for NP_000350.1

Status: REVIEWED

Source sequence(s)

AL096870

Consensus CDS

CCDS9622.1

UniProtKB/Swiss-Prot

B4DWR7, P22735, Q197M4

UniProtKB/TrEMBL

A8K5N5

Related

ENSP00000206765.6, ENST00000206765.11

Conserved Domains (3) summary

smart00460
Location:371 → 462

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:111 → 226

Transglut_N; Transglutaminase family

pfam00927
Location:579 → 683

Transglut_C; Transglutaminase family, C-terminal ig like domain